Incidental Mutation 'R0344:Adgrl2'
| ID |
26415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl2
|
| Ensembl Gene |
ENSMUSG00000028184 |
| Gene Name |
adhesion G protein-coupled receptor L2 |
| Synonyms |
Lphn2, Lphh1, Lec1 |
| MMRRC Submission |
038551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
148521219-148696191 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 148571231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106128]
[ENSMUST00000106128]
[ENSMUST00000195988]
[ENSMUST00000195988]
[ENSMUST00000196526]
[ENSMUST00000196526]
[ENSMUST00000197567]
[ENSMUST00000197567]
[ENSMUST00000198779]
[ENSMUST00000198779]
[ENSMUST00000199059]
[ENSMUST00000199059]
[ENSMUST00000199238]
[ENSMUST00000199238]
[ENSMUST00000199750]
[ENSMUST00000199750]
[ENSMUST00000200543]
[ENSMUST00000200543]
[ENSMUST00000200154]
[ENSMUST00000200154]
|
| AlphaFold |
Q8JZZ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106128
|
| SMART Domains |
Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.3e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
4.6e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
6.4e-181 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106128
|
| SMART Domains |
Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.3e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
4.6e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
6.4e-181 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195988
|
| SMART Domains |
Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.3e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.1e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1189 |
2.2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1184 |
1435 |
5.5e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195988
|
| SMART Domains |
Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.3e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.1e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1189 |
2.2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1184 |
1435 |
5.5e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196526
|
| SMART Domains |
Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
8.7e-24 |
PFAM |
|
OLF
|
138 |
394 |
3.4e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
Pfam:GAIN
|
533 |
747 |
1.1e-54 |
PFAM |
|
GPS
|
771 |
823 |
2.2e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
6.5e-68 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1158 |
9.9e-36 |
PFAM |
|
low complexity region
|
1163 |
1173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196526
|
| SMART Domains |
Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
8.7e-24 |
PFAM |
|
OLF
|
138 |
394 |
3.4e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
Pfam:GAIN
|
533 |
747 |
1.1e-54 |
PFAM |
|
GPS
|
771 |
823 |
2.2e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
6.5e-68 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1158 |
9.9e-36 |
PFAM |
|
low complexity region
|
1163 |
1173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197567
|
| SMART Domains |
Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
1.9e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.1e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
6.4e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
2.8e-181 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197567
|
| SMART Domains |
Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
1.9e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.1e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
6.4e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
2.8e-181 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198779
|
| SMART Domains |
Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1084 |
1.8e-66 |
PFAM |
|
Pfam:Latrophilin
|
1104 |
1452 |
7e-174 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198779
|
| SMART Domains |
Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1084 |
1.8e-66 |
PFAM |
|
Pfam:Latrophilin
|
1104 |
1452 |
7e-174 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199059
|
| SMART Domains |
Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.3e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1467 |
7.1e-174 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199059
|
| SMART Domains |
Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.3e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1467 |
7.1e-174 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199238
|
| SMART Domains |
Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.4e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1478 |
1.6e-187 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199238
|
| SMART Domains |
Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.4e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1478 |
1.6e-187 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199750
|
| SMART Domains |
Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.1e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
403 |
468 |
1.9e-22 |
SMART |
|
GPS
|
709 |
761 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
769 |
1005 |
1.6e-66 |
PFAM |
|
Pfam:Latrophilin
|
1025 |
1095 |
2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1090 |
1341 |
4.9e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199750
|
| SMART Domains |
Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.1e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
403 |
468 |
1.9e-22 |
SMART |
|
GPS
|
709 |
761 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
769 |
1005 |
1.6e-66 |
PFAM |
|
Pfam:Latrophilin
|
1025 |
1095 |
2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1090 |
1341 |
4.9e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200543
|
| SMART Domains |
Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.2e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.7e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1157 |
2.1e-28 |
PFAM |
|
Pfam:Latrophilin
|
1152 |
1403 |
5.3e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200543
|
| SMART Domains |
Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.2e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.7e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1157 |
2.1e-28 |
PFAM |
|
Pfam:Latrophilin
|
1152 |
1403 |
5.3e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200154
|
| SMART Domains |
Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.2e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1123 |
2.2e-4 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200154
|
| SMART Domains |
Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.2e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1123 |
2.2e-4 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.3%
- 20x: 93.6%
|
| Validation Efficiency |
99% (81/82) |
| 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. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice die prenatally at fetal stages. Heterozygous mice exhibit decreased locomotor activity in an open field test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553J12Rik |
T |
A |
16: 88,617,189 (GRCm39) |
C29* |
probably null |
Het |
| Abca4 |
G |
A |
3: 121,877,613 (GRCm39) |
C324Y |
probably damaging |
Het |
| Ablim2 |
T |
G |
5: 35,994,277 (GRCm39) |
|
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,870 (GRCm39) |
V115E |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,243,013 (GRCm39) |
S936T |
probably benign |
Het |
| Agap3 |
T |
C |
5: 24,656,200 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
T |
A |
13: 74,362,705 (GRCm39) |
S393C |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,713,998 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
C |
A |
6: 118,484,598 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,668 (GRCm39) |
V886I |
probably benign |
Het |
| Atp5f1a |
C |
A |
18: 77,867,895 (GRCm39) |
N356K |
probably damaging |
Het |
| AU021092 |
A |
T |
16: 5,040,031 (GRCm39) |
M31K |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,124,978 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C3ar1 |
T |
C |
6: 122,827,731 (GRCm39) |
D162G |
probably benign |
Het |
| Camkk2 |
C |
T |
5: 122,901,940 (GRCm39) |
C123Y |
probably benign |
Het |
| Casp8ap2 |
A |
T |
4: 32,644,079 (GRCm39) |
I1051F |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,965 (GRCm39) |
V544E |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,417,817 (GRCm39) |
|
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Dennd6b |
T |
C |
15: 89,080,432 (GRCm39) |
Q56R |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,787,663 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,692,062 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,925,350 (GRCm39) |
V164A |
probably damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,572 (GRCm39) |
G165S |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,219,328 (GRCm39) |
K352E |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,845,613 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,513 (GRCm39) |
F45L |
probably damaging |
Het |
| Ipo4 |
T |
C |
14: 55,863,399 (GRCm39) |
Q1073R |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,008,973 (GRCm39) |
K485E |
probably benign |
Het |
| Jak2 |
G |
A |
19: 29,261,029 (GRCm39) |
V342I |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,859,666 (GRCm39) |
Q297K |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,077,573 (GRCm39) |
E103G |
probably benign |
Het |
| Mthfr |
C |
G |
4: 148,139,885 (GRCm39) |
S618W |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,644,185 (GRCm39) |
V727A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,881,152 (GRCm39) |
E313A |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,646 (GRCm39) |
C208Y |
probably damaging |
Het |
| Or52b2 |
C |
A |
7: 104,986,814 (GRCm39) |
M36I |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,726 (GRCm39) |
C188* |
probably null |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,992,806 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,566 (GRCm39) |
T201A |
probably benign |
Het |
| Phldb1 |
C |
A |
9: 44,612,964 (GRCm39) |
V919L |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,460,407 (GRCm39) |
H4205Q |
probably benign |
Het |
| Plekhg3 |
G |
T |
12: 76,613,040 (GRCm39) |
E449* |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,537,338 (GRCm39) |
I331N |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,033,929 (GRCm39) |
V301A |
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,081,636 (GRCm39) |
R22H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,541,443 (GRCm39) |
V361A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,714 (GRCm39) |
V1309E |
possibly damaging |
Het |
| Rere |
T |
C |
4: 150,695,438 (GRCm39) |
|
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,970,404 (GRCm39) |
T322S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,335,354 (GRCm39) |
I1203L |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,233,442 (GRCm39) |
|
probably benign |
Het |
| Sik3 |
C |
A |
9: 46,120,109 (GRCm39) |
Q683K |
probably damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,927,621 (GRCm39) |
I307V |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,647 (GRCm39) |
D306G |
probably damaging |
Het |
| Snx13 |
G |
A |
12: 35,136,899 (GRCm39) |
W120* |
probably null |
Het |
| Snx5 |
A |
G |
2: 144,099,128 (GRCm39) |
|
probably benign |
Het |
| Srsf5 |
T |
C |
12: 80,994,298 (GRCm39) |
S76P |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,629,186 (GRCm39) |
D31G |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,956,709 (GRCm39) |
M333T |
probably benign |
Het |
| Taf6 |
T |
G |
5: 138,179,409 (GRCm39) |
I377L |
probably benign |
Het |
| Taf8 |
G |
T |
17: 47,804,505 (GRCm39) |
N252K |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,423 (GRCm39) |
T113A |
probably benign |
Het |
| Tmtc4 |
C |
T |
14: 123,215,572 (GRCm39) |
V25M |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,886 (GRCm39) |
D841E |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,185,932 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,542,833 (GRCm39) |
D33384E |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,067 (GRCm39) |
E928G |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,090 (GRCm39) |
F81L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,042 (GRCm39) |
I738T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,806 (GRCm39) |
E87K |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,964,822 (GRCm39) |
M351L |
probably benign |
Het |
|
| Other mutations in Adgrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Adgrl2
|
APN |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00572:Adgrl2
|
APN |
3 |
148,532,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Adgrl2
|
APN |
3 |
148,542,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Adgrl2
|
APN |
3 |
148,564,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Adgrl2
|
APN |
3 |
148,534,125 (GRCm39) |
nonsense |
probably null |
|
|
IGL02468:Adgrl2
|
APN |
3 |
148,596,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Adgrl2
|
APN |
3 |
148,532,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02869:Adgrl2
|
APN |
3 |
148,596,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Adgrl2
|
APN |
3 |
148,523,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Adgrl2
|
APN |
3 |
148,565,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0157:Adgrl2
|
UTSW |
3 |
148,564,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
PIT4544001:Adgrl2
|
UTSW |
3 |
148,596,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Adgrl2
|
UTSW |
3 |
148,558,499 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Adgrl2
|
UTSW |
3 |
148,544,821 (GRCm39) |
splice site |
probably null |
|
|
R0242:Adgrl2
|
UTSW |
3 |
148,544,821 (GRCm39) |
splice site |
probably null |
|
|
R0488:Adgrl2
|
UTSW |
3 |
148,552,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Adgrl2
|
UTSW |
3 |
148,564,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Adgrl2
|
UTSW |
3 |
148,544,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0674:Adgrl2
|
UTSW |
3 |
148,543,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1401:Adgrl2
|
UTSW |
3 |
148,528,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1543:Adgrl2
|
UTSW |
3 |
148,564,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Adgrl2
|
UTSW |
3 |
148,558,398 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1645:Adgrl2
|
UTSW |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Adgrl2
|
UTSW |
3 |
148,558,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Adgrl2
|
UTSW |
3 |
148,522,880 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2014:Adgrl2
|
UTSW |
3 |
148,532,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2400:Adgrl2
|
UTSW |
3 |
148,557,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2997:Adgrl2
|
UTSW |
3 |
148,523,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Adgrl2
|
UTSW |
3 |
148,523,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Adgrl2
|
UTSW |
3 |
148,564,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Adgrl2
|
UTSW |
3 |
148,522,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Adgrl2
|
UTSW |
3 |
148,544,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Adgrl2
|
UTSW |
3 |
148,564,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Adgrl2
|
UTSW |
3 |
148,596,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Adgrl2
|
UTSW |
3 |
148,528,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Adgrl2
|
UTSW |
3 |
148,529,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Adgrl2
|
UTSW |
3 |
148,523,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5540:Adgrl2
|
UTSW |
3 |
148,543,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5583:Adgrl2
|
UTSW |
3 |
148,564,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Adgrl2
|
UTSW |
3 |
148,564,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Adgrl2
|
UTSW |
3 |
148,528,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Adgrl2
|
UTSW |
3 |
148,564,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Adgrl2
|
UTSW |
3 |
148,532,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Adgrl2
|
UTSW |
3 |
148,522,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Adgrl2
|
UTSW |
3 |
148,552,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Adgrl2
|
UTSW |
3 |
148,564,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Adgrl2
|
UTSW |
3 |
148,552,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Adgrl2
|
UTSW |
3 |
148,523,402 (GRCm39) |
missense |
|
|
|
R7382:Adgrl2
|
UTSW |
3 |
148,522,919 (GRCm39) |
missense |
|
|
|
R7486:Adgrl2
|
UTSW |
3 |
148,523,330 (GRCm39) |
missense |
|
|
|
R7498:Adgrl2
|
UTSW |
3 |
148,564,852 (GRCm39) |
nonsense |
probably null |
|
|
R7644:Adgrl2
|
UTSW |
3 |
148,544,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
R7742:Adgrl2
|
UTSW |
3 |
148,542,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Adgrl2
|
UTSW |
3 |
148,542,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Adgrl2
|
UTSW |
3 |
148,556,554 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8326:Adgrl2
|
UTSW |
3 |
148,533,190 (GRCm39) |
missense |
|
|
|
R8343:Adgrl2
|
UTSW |
3 |
148,552,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Adgrl2
|
UTSW |
3 |
148,565,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8487:Adgrl2
|
UTSW |
3 |
148,565,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8748:Adgrl2
|
UTSW |
3 |
148,532,026 (GRCm39) |
missense |
|
|
|
R8769:Adgrl2
|
UTSW |
3 |
148,522,917 (GRCm39) |
missense |
|
|
|
R8804:Adgrl2
|
UTSW |
3 |
148,552,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Adgrl2
|
UTSW |
3 |
148,558,163 (GRCm39) |
intron |
probably benign |
|
|
R8943:Adgrl2
|
UTSW |
3 |
148,534,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Adgrl2
|
UTSW |
3 |
148,660,223 (GRCm39) |
missense |
probably null |
|
|
R9030:Adgrl2
|
UTSW |
3 |
148,544,761 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9105:Adgrl2
|
UTSW |
3 |
148,543,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9427:Adgrl2
|
UTSW |
3 |
148,526,068 (GRCm39) |
missense |
|
|
|
R9471:Adgrl2
|
UTSW |
3 |
148,558,365 (GRCm39) |
missense |
probably benign |
|
|
R9646:Adgrl2
|
UTSW |
3 |
148,544,926 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9742:Adgrl2
|
UTSW |
3 |
148,541,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF007:Adgrl2
|
UTSW |
3 |
148,544,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Adgrl2
|
UTSW |
3 |
148,558,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Adgrl2
|
UTSW |
3 |
148,571,230 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCAAACCAATTTGTCAGCAAC -3'
(R):5'- GGCCTGGTGCTTATTCTCTCAGAAC -3'
Sequencing Primer
(F):5'- GCCCTACTGAATAGCTAATTCAAG -3'
(R):5'- CATATGTTGGTTCATGATTCAGCTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation