Incidental Mutation 'R6426:Adgrl3'
| ID |
518323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl3
|
| Ensembl Gene |
ENSMUSG00000037605 |
| Gene Name |
adhesion G protein-coupled receptor L3 |
| Synonyms |
lectomedin 3, D130075K09Rik, 5430402I23Rik, Lphn3, LEC3 |
| MMRRC Submission |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
81167985-81972980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81874717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 1073
(S1073C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036068]
[ENSMUST00000072521]
[ENSMUST00000117253]
[ENSMUST00000117407]
[ENSMUST00000117985]
[ENSMUST00000118034]
[ENSMUST00000118078]
[ENSMUST00000118442]
[ENSMUST00000119385]
[ENSMUST00000119788]
[ENSMUST00000120128]
[ENSMUST00000120144]
[ENSMUST00000120292]
[ENSMUST00000120445]
[ENSMUST00000120673]
[ENSMUST00000121641]
[ENSMUST00000121707]
[ENSMUST00000122356]
[ENSMUST00000122037]
[ENSMUST00000132375]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036068
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045342
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
6.6e-27 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
1.1e-7 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
2.2e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
4.4e-72 |
PFAM |
|
Pfam:Latrophilin
|
1206 |
1276 |
2.4e-30 |
PFAM |
|
Pfam:Latrophilin
|
1272 |
1543 |
3.2e-113 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072521
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072336
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
5.9e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
4.3e-8 |
PFAM |
|
Pfam:GAIN
|
630 |
856 |
1.2e-58 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
2.5e-73 |
PFAM |
|
Pfam:Latrophilin
|
1207 |
1274 |
4e-34 |
PFAM |
|
Pfam:Latrophilin
|
1272 |
1543 |
5e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117253
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112470
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
4.5e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.2e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1110 |
5e-73 |
PFAM |
|
Pfam:Latrophilin
|
1129 |
1265 |
7.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117407
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112388
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
2.4e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
6e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
2.6e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1178 |
7.7e-73 |
PFAM |
|
Pfam:Latrophilin
|
1197 |
1321 |
1.8e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117985
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113950
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1.3e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
5.5e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.6e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1119 |
1.7e-72 |
PFAM |
|
Pfam:Latrophilin
|
1138 |
1512 |
6.8e-178 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118034
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113534
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1.2e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
5.5e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.6e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1110 |
6.6e-73 |
PFAM |
|
Pfam:Latrophilin
|
1129 |
1503 |
6.7e-178 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118078
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112731
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
9.7e-27 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
4.3e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.2e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1110 |
4.8e-73 |
PFAM |
|
Pfam:Latrophilin
|
1129 |
1201 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118442
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113836
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
1e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
4.7e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
1.3e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
1.4e-72 |
PFAM |
|
Pfam:Latrophilin
|
1206 |
1278 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119385
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113243
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
1e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
4.6e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
1.3e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1178 |
5.2e-73 |
PFAM |
|
Pfam:Latrophilin
|
1197 |
1269 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119788
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114067
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
1.3e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
5.7e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
1.7e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
1.8e-72 |
PFAM |
|
Pfam:Latrophilin
|
1206 |
1279 |
3.6e-31 |
PFAM |
|
Pfam:Latrophilin
|
1273 |
1550 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120128
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113208
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
9.8e-27 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
4.4e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.2e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1119 |
1.3e-72 |
PFAM |
|
Pfam:Latrophilin
|
1138 |
1210 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120144
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113619
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
4.5e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.3e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1110 |
5.1e-73 |
PFAM |
|
Pfam:Latrophilin
|
1129 |
1253 |
8.4e-62 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120292
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112548
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
4.5e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.3e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1119 |
1.3e-72 |
PFAM |
|
Pfam:Latrophilin
|
1138 |
1262 |
8.5e-62 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120445
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113249
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
2.2e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
2.8e-8 |
PFAM |
|
Pfam:GAIN
|
630 |
856 |
5.1e-59 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
1.4e-73 |
PFAM |
|
Pfam:Latrophilin
|
1207 |
1328 |
8e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120673
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113482
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
2.7e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
3.3e-8 |
PFAM |
|
Pfam:GAIN
|
630 |
856 |
6.4e-59 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1187 |
1.8e-73 |
PFAM |
|
Pfam:Latrophilin
|
1207 |
1580 |
1.4e-158 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121641
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113694
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
1.3e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
5.8e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
1.7e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1178 |
7e-73 |
PFAM |
|
Pfam:Latrophilin
|
1197 |
1571 |
7.3e-178 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121707
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112823
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
1.3e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
5.6e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
1.7e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1178 |
6.8e-73 |
PFAM |
|
Pfam:Latrophilin
|
1197 |
1267 |
6.4e-30 |
PFAM |
|
Pfam:Latrophilin
|
1263 |
1534 |
8.7e-113 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122356
AA Change: S1073C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113600
Gene: ENSMUSG00000037605
AA Change: S1073C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
111 |
191 |
2.8e-26 |
PFAM |
|
OLF
|
205 |
461 |
2.71e-170 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
563 |
621 |
7e-8 |
PFAM |
|
Pfam:DUF3497
|
627 |
857 |
3.1e-84 |
PFAM |
|
GPS
|
882 |
934 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
942 |
1178 |
9.3e-73 |
PFAM |
|
Pfam:Latrophilin
|
1197 |
1267 |
9e-30 |
PFAM |
|
Pfam:Latrophilin
|
1262 |
1528 |
2.8e-112 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124117
AA Change: S417C
|
| SMART Domains |
Protein: ENSMUSP00000118882
Gene: ENSMUSG00000037605
AA Change: S417C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GAIN
|
2 |
201 |
1.8e-51 |
PFAM |
|
GPS
|
227 |
279 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
287 |
523 |
9.1e-75 |
PFAM |
|
Pfam:Latrophilin
|
543 |
610 |
7.2e-35 |
PFAM |
|
Pfam:Latrophilin
|
607 |
873 |
1.8e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122037
AA Change: S1005C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113374
Gene: ENSMUSG00000037605
AA Change: S1005C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
43 |
123 |
1.2e-26 |
PFAM |
|
OLF
|
137 |
393 |
2.71e-170 |
SMART |
|
low complexity region
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:HRM
|
495 |
553 |
5.3e-8 |
PFAM |
|
Pfam:DUF3497
|
559 |
789 |
1.5e-84 |
PFAM |
|
GPS
|
814 |
866 |
3.72e-25 |
SMART |
|
Pfam:7tm_2
|
874 |
1110 |
6.3e-73 |
PFAM |
|
Pfam:Latrophilin
|
1129 |
1199 |
4.4e-30 |
PFAM |
|
Pfam:Latrophilin
|
1194 |
1460 |
1.3e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132375
|
| SMART Domains |
Protein: ENSMUSP00000117211
Gene: ENSMUSG00000037605
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201055
|
| Meta Mutation Damage Score |
0.6688 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased dopamine and serotonine levels in the dorsal striatum, hyperactivity, increased stereotypic behavior and enhanced hyperactivity in response to cocaine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
Het |
|
| Other mutations in Adgrl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Adgrl3
|
APN |
5 |
81,872,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00596:Adgrl3
|
APN |
5 |
81,794,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00766:Adgrl3
|
APN |
5 |
81,942,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00787:Adgrl3
|
APN |
5 |
81,841,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00917:Adgrl3
|
APN |
5 |
81,841,421 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01155:Adgrl3
|
APN |
5 |
81,708,740 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01348:Adgrl3
|
APN |
5 |
81,874,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Adgrl3
|
APN |
5 |
81,836,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01443:Adgrl3
|
APN |
5 |
81,613,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Adgrl3
|
APN |
5 |
81,842,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01779:Adgrl3
|
APN |
5 |
81,535,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01920:Adgrl3
|
APN |
5 |
81,613,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Adgrl3
|
APN |
5 |
81,660,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Adgrl3
|
APN |
5 |
81,660,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02879:Adgrl3
|
APN |
5 |
81,659,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Adgrl3
|
UTSW |
5 |
81,940,250 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0077:Adgrl3
|
UTSW |
5 |
81,919,532 (GRCm39) |
splice site |
probably benign |
|
|
R0103:Adgrl3
|
UTSW |
5 |
81,940,194 (GRCm39) |
intron |
probably benign |
|
|
R0138:Adgrl3
|
UTSW |
5 |
81,841,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Adgrl3
|
UTSW |
5 |
81,908,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Adgrl3
|
UTSW |
5 |
81,919,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Adgrl3
|
UTSW |
5 |
81,908,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Adgrl3
|
UTSW |
5 |
81,874,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0610:Adgrl3
|
UTSW |
5 |
81,841,563 (GRCm39) |
splice site |
probably benign |
|
|
R0658:Adgrl3
|
UTSW |
5 |
81,796,560 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0671:Adgrl3
|
UTSW |
5 |
81,708,752 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0679:Adgrl3
|
UTSW |
5 |
81,942,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Adgrl3
|
UTSW |
5 |
81,841,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1444:Adgrl3
|
UTSW |
5 |
81,660,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Adgrl3
|
UTSW |
5 |
81,935,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Adgrl3
|
UTSW |
5 |
81,935,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Adgrl3
|
UTSW |
5 |
81,535,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Adgrl3
|
UTSW |
5 |
81,942,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Adgrl3
|
UTSW |
5 |
81,919,464 (GRCm39) |
nonsense |
probably null |
|
|
R1891:Adgrl3
|
UTSW |
5 |
81,659,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Adgrl3
|
UTSW |
5 |
81,836,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Adgrl3
|
UTSW |
5 |
81,660,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Adgrl3
|
UTSW |
5 |
81,660,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Adgrl3
|
UTSW |
5 |
81,660,362 (GRCm39) |
nonsense |
probably null |
|
|
R2891:Adgrl3
|
UTSW |
5 |
81,841,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Adgrl3
|
UTSW |
5 |
81,872,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Adgrl3
|
UTSW |
5 |
81,942,793 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3732:Adgrl3
|
UTSW |
5 |
81,942,793 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3733:Adgrl3
|
UTSW |
5 |
81,942,793 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3982:Adgrl3
|
UTSW |
5 |
81,842,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4085:Adgrl3
|
UTSW |
5 |
81,660,391 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4462:Adgrl3
|
UTSW |
5 |
81,836,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Adgrl3
|
UTSW |
5 |
81,914,052 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4726:Adgrl3
|
UTSW |
5 |
81,794,425 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4781:Adgrl3
|
UTSW |
5 |
81,908,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Adgrl3
|
UTSW |
5 |
81,914,081 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4841:Adgrl3
|
UTSW |
5 |
81,942,118 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4883:Adgrl3
|
UTSW |
5 |
81,837,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Adgrl3
|
UTSW |
5 |
81,659,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Adgrl3
|
UTSW |
5 |
81,659,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Adgrl3
|
UTSW |
5 |
81,794,398 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5313:Adgrl3
|
UTSW |
5 |
81,874,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Adgrl3
|
UTSW |
5 |
81,874,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Adgrl3
|
UTSW |
5 |
81,613,188 (GRCm39) |
intron |
probably benign |
|
|
R5482:Adgrl3
|
UTSW |
5 |
81,942,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Adgrl3
|
UTSW |
5 |
81,871,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5637:Adgrl3
|
UTSW |
5 |
81,841,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Adgrl3
|
UTSW |
5 |
81,794,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6090:Adgrl3
|
UTSW |
5 |
81,660,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Adgrl3
|
UTSW |
5 |
81,794,369 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6107:Adgrl3
|
UTSW |
5 |
81,836,410 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6245:Adgrl3
|
UTSW |
5 |
81,836,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6440:Adgrl3
|
UTSW |
5 |
81,942,341 (GRCm39) |
nonsense |
probably null |
|
|
R6516:Adgrl3
|
UTSW |
5 |
81,613,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Adgrl3
|
UTSW |
5 |
81,935,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6622:Adgrl3
|
UTSW |
5 |
81,942,606 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6842:Adgrl3
|
UTSW |
5 |
81,888,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Adgrl3
|
UTSW |
5 |
81,837,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Adgrl3
|
UTSW |
5 |
81,796,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Adgrl3
|
UTSW |
5 |
81,872,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Adgrl3
|
UTSW |
5 |
81,457,874 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
R7215:Adgrl3
|
UTSW |
5 |
81,841,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Adgrl3
|
UTSW |
5 |
81,942,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Adgrl3
|
UTSW |
5 |
81,871,987 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7582:Adgrl3
|
UTSW |
5 |
81,841,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7682:Adgrl3
|
UTSW |
5 |
81,942,407 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7863:Adgrl3
|
UTSW |
5 |
81,660,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Adgrl3
|
UTSW |
5 |
81,842,467 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8051:Adgrl3
|
UTSW |
5 |
81,613,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Adgrl3
|
UTSW |
5 |
81,935,408 (GRCm39) |
frame shift |
probably null |
|
|
R8390:Adgrl3
|
UTSW |
5 |
81,914,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Adgrl3
|
UTSW |
5 |
81,794,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8475:Adgrl3
|
UTSW |
5 |
81,871,976 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8478:Adgrl3
|
UTSW |
5 |
81,942,348 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8550:Adgrl3
|
UTSW |
5 |
81,942,599 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8685:Adgrl3
|
UTSW |
5 |
81,874,708 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8792:Adgrl3
|
UTSW |
5 |
81,836,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8851:Adgrl3
|
UTSW |
5 |
81,613,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Adgrl3
|
UTSW |
5 |
81,794,451 (GRCm39) |
missense |
probably benign |
|
|
R8889:Adgrl3
|
UTSW |
5 |
81,874,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Adgrl3
|
UTSW |
5 |
81,874,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Adgrl3
|
UTSW |
5 |
81,796,568 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9023:Adgrl3
|
UTSW |
5 |
81,613,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9089:Adgrl3
|
UTSW |
5 |
81,808,291 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9100:Adgrl3
|
UTSW |
5 |
81,842,299 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9104:Adgrl3
|
UTSW |
5 |
81,457,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9172:Adgrl3
|
UTSW |
5 |
81,922,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9284:Adgrl3
|
UTSW |
5 |
81,657,568 (GRCm39) |
splice site |
probably benign |
|
|
R9286:Adgrl3
|
UTSW |
5 |
81,794,413 (GRCm39) |
missense |
probably benign |
|
|
R9644:Adgrl3
|
UTSW |
5 |
81,872,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9689:Adgrl3
|
UTSW |
5 |
81,942,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9757:Adgrl3
|
UTSW |
5 |
81,613,086 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9795:Adgrl3
|
UTSW |
5 |
81,837,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Adgrl3
|
UTSW |
5 |
81,660,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Adgrl3
|
UTSW |
5 |
81,477,729 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGGAAACTGAAGCCTGGG -3'
(R):5'- ACGCTCTTCTAAAATAGCATCACAG -3'
Sequencing Primer
(F):5'- GAAACTGAAGCCTGGGTTCATTTTTC -3'
(R):5'- ACAACAAATACCAAGCCATACATTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation