Incidental Mutation 'R4781:Adgrl3'
| ID |
366485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl3
|
| Ensembl Gene |
ENSMUSG00000037605 |
| Gene Name |
adhesion G protein-coupled receptor L3 |
| Synonyms |
LEC3, 5430402I23Rik, lectomedin 3, Lphn3, D130075K09Rik |
| MMRRC Submission |
042415-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4781 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
81020138-81825133 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81760724 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1165
(Y1165H)
|
| 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]
[ENSMUST00000122037]
[ENSMUST00000121641]
[ENSMUST00000121707]
[ENSMUST00000122356]
[ENSMUST00000132375]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036068
AA Change: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045342
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072336
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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: Y1097H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112470
Gene: ENSMUSG00000037605
AA Change: Y1097H
| 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: Y1165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112388
Gene: ENSMUSG00000037605
AA Change: Y1165H
| 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: Y1106H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113950
Gene: ENSMUSG00000037605
AA Change: Y1106H
| 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: Y1097H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113534
Gene: ENSMUSG00000037605
AA Change: Y1097H
| 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: Y1097H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112731
Gene: ENSMUSG00000037605
AA Change: Y1097H
| 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: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113836
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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: Y1165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113243
Gene: ENSMUSG00000037605
AA Change: Y1165H
| 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: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114067
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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: Y1106H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113208
Gene: ENSMUSG00000037605
AA Change: Y1106H
| 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: Y1097H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113619
Gene: ENSMUSG00000037605
AA Change: Y1097H
| 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: Y1106H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112548
Gene: ENSMUSG00000037605
AA Change: Y1106H
| 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: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113249
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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: Y1174H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113482
Gene: ENSMUSG00000037605
AA Change: Y1174H
| 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 |
unknown
Transcript: ENSMUST00000124117
AA Change: Y509H
|
| SMART Domains |
Protein: ENSMUSP00000118882
Gene: ENSMUSG00000037605
AA Change: Y509H
| 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 |
noncoding transcript
Transcript: ENSMUST00000153264
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122037
AA Change: Y1097H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113374
Gene: ENSMUSG00000037605
AA Change: Y1097H
| 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 damaging
Transcript: ENSMUST00000121641
AA Change: Y1165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113694
Gene: ENSMUSG00000037605
AA Change: Y1165H
| 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: Y1165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112823
Gene: ENSMUSG00000037605
AA Change: Y1165H
| 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: Y1165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113600
Gene: ENSMUSG00000037605
AA Change: Y1165H
| 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 |
probably benign
Transcript: ENSMUST00000132375
|
| SMART Domains |
Protein: ENSMUSP00000117211
Gene: ENSMUSG00000037605
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8074 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,571,651 |
I157N |
probably damaging |
Het |
| Adra2a |
A |
G |
19: 54,046,495 |
D94G |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,508,175 |
K197* |
probably null |
Het |
| Ankrd65 |
C |
T |
4: 155,793,036 |
H335Y |
possibly damaging |
Het |
| Axin2 |
T |
A |
11: 108,943,856 |
L636Q |
probably damaging |
Het |
| BC147527 |
A |
C |
13: 120,308,162 |
K6T |
possibly damaging |
Het |
| Camk1g |
G |
T |
1: 193,356,344 |
T90N |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,750,626 |
C528F |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,412,201 |
D730V |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,386,236 |
D195G |
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,819,093 |
S74G |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,456,112 |
R128G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,425,208 |
F3675L |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,571,676 |
W195R |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,691,057 |
P297L |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,595,273 |
S83G |
probably benign |
Het |
| Gabra1 |
G |
A |
11: 42,133,661 |
P396S |
probably damaging |
Het |
| Gipr |
T |
A |
7: 19,157,375 |
Y459F |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,724,711 |
|
noncoding transcript |
Het |
| Gm6981 |
T |
C |
9: 52,002,756 |
|
noncoding transcript |
Het |
| Grin2d |
T |
C |
7: 45,862,481 |
D180G |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,306,107 |
|
probably null |
Het |
| Hhat |
T |
C |
1: 192,686,979 |
|
probably benign |
Het |
| Hoxa6 |
A |
G |
6: 52,206,420 |
L215P |
possibly damaging |
Het |
| Hsf4 |
G |
A |
8: 105,274,752 |
|
probably null |
Het |
| Igf1r |
G |
A |
7: 68,165,199 |
A283T |
possibly damaging |
Het |
| Ighv15-2 |
A |
G |
12: 114,564,856 |
S25P |
probably damaging |
Het |
| Inpp5a |
C |
T |
7: 139,478,005 |
T43I |
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,443,825 |
E82V |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,687,377 |
|
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,797,622 |
|
probably null |
Het |
| Mefv |
G |
A |
16: 3,715,334 |
P358S |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 47,235,047 |
F291L |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,488,435 |
L673P |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,903,166 |
|
noncoding transcript |
Het |
| Myo5b |
A |
T |
18: 74,744,681 |
T1584S |
possibly damaging |
Het |
| Olfr1375 |
A |
T |
11: 51,048,480 |
R124S |
probably damaging |
Het |
| Olfr1427 |
T |
C |
19: 12,099,367 |
T91A |
probably benign |
Het |
| Palld |
G |
T |
8: 61,877,028 |
R272S |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,687,130 |
N144Y |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,300,424 |
K160E |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,291,709 |
A400V |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 82,864,152 |
Y48C |
probably damaging |
Het |
| Rpl11 |
G |
T |
4: 136,050,288 |
Q170K |
probably benign |
Het |
| Scin |
G |
A |
12: 40,081,764 |
A257V |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,703,760 |
A524S |
possibly damaging |
Het |
| Sim1 |
T |
C |
10: 50,983,785 |
L581S |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,144,459 |
T715A |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,790,135 |
V301A |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,182,681 |
Y923C |
probably damaging |
Het |
| Src |
T |
A |
2: 157,467,485 |
M304K |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,757,425 |
|
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,372,334 |
E72K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,340 |
N2482I |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,218,415 |
K20R |
possibly damaging |
Het |
| Tfip11 |
G |
A |
5: 112,333,399 |
E414K |
probably damaging |
Het |
| Tinag |
G |
T |
9: 76,996,950 |
T397K |
possibly damaging |
Het |
| Traf7 |
C |
G |
17: 24,510,438 |
|
probably benign |
Het |
| Trmt10b |
T |
A |
4: 45,305,817 |
I164N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 64,235,052 |
D827G |
probably benign |
Het |
| Ube2u |
A |
T |
4: 100,486,658 |
T85S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,103,576 |
D1066G |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,737,861 |
I832F |
probably benign |
Het |
| Yipf1 |
A |
C |
4: 107,336,158 |
E80D |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,175,655 |
R653W |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,372,553 |
T308A |
probably damaging |
Het |
|
| Other mutations in Adgrl3 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGTAGCGTTGATAGGACAG -3'
(R):5'- TGTATATGGTGTCATTCCTAGTAAAGG -3'
Sequencing Primer
(F):5'- GACAGAGTTTTGTTCACCCAGGAC -3'
(R):5'- CATGCAAATTCGGTAGGT -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation