Incidental Mutation 'R9108:Adgra3'
| ID |
692067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra3
|
| Ensembl Gene |
ENSMUSG00000029090 |
| Gene Name |
adhesion G protein-coupled receptor A3 |
| Synonyms |
Tem5-like, 3830613O22Rik, Gpr125 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 50136295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 730
(A730D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
| AlphaFold |
Q7TT36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: A730D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: A730D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
LRR
|
68 |
92 |
1.71e1 |
SMART |
|
LRR_TYP
|
93 |
116 |
2.27e-4 |
SMART |
|
LRR_TYP
|
117 |
140 |
4.11e-2 |
SMART |
|
LRR_TYP
|
141 |
164 |
3.89e-3 |
SMART |
|
LRRCT
|
176 |
225 |
5.24e-5 |
SMART |
|
IG
|
238 |
331 |
8.26e-5 |
SMART |
|
GPS
|
686 |
738 |
4.81e-3 |
SMART |
|
Pfam:7tm_2
|
746 |
1031 |
1.6e-16 |
PFAM |
|
low complexity region
|
1251 |
1262 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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 G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous mutant mice are fertile and grossly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
A |
18: 6,638,794 (GRCm39) |
V398M |
probably benign |
Het |
| 4930568D16Rik |
G |
A |
2: 35,244,942 (GRCm39) |
P137S |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abcg8 |
A |
C |
17: 85,000,243 (GRCm39) |
I268L |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,039,038 (GRCm39) |
Q445R |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,380,132 (GRCm39) |
N625D |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,857,721 (GRCm39) |
V856M |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,643,474 (GRCm39) |
C452R |
probably damaging |
Het |
| Adnp2 |
C |
T |
18: 80,185,925 (GRCm39) |
R16Q |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,321,851 (GRCm39) |
C48R |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,492,973 (GRCm39) |
E1774G |
possibly damaging |
Het |
| Capsl |
A |
T |
15: 9,465,910 (GRCm39) |
I199F |
possibly damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,512 (GRCm39) |
D36E |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,616,051 (GRCm39) |
K86* |
probably null |
Het |
| Cnnm1 |
T |
C |
19: 43,464,649 (GRCm39) |
F736S |
possibly damaging |
Het |
| Col11a2 |
T |
A |
17: 34,276,634 (GRCm39) |
V532E |
probably benign |
Het |
| Dnmt3l |
T |
C |
10: 77,892,756 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,622,706 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
C |
A |
2: 144,364,391 (GRCm39) |
V69L |
probably benign |
Het |
| Epor |
T |
G |
9: 21,870,875 (GRCm39) |
E335A |
probably damaging |
Het |
| Fbxo46 |
A |
T |
7: 18,870,308 (GRCm39) |
Y309F |
probably damaging |
Het |
| Fra10ac1 |
A |
T |
19: 38,202,779 (GRCm39) |
|
probably benign |
Het |
| Gid8 |
G |
T |
2: 180,352,132 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
G |
3: 36,080,036 (GRCm39) |
*240C |
probably null |
Het |
| Gnptab |
C |
T |
10: 88,269,400 (GRCm39) |
S701L |
|
Het |
| Ifnl3 |
T |
C |
7: 28,223,704 (GRCm39) |
L180P |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,577,956 (GRCm39) |
I518F |
probably damaging |
Het |
| Ildr1 |
A |
G |
16: 36,535,919 (GRCm39) |
T145A |
probably benign |
Het |
| Kiss1r |
A |
T |
10: 79,754,336 (GRCm39) |
|
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,252,018 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,390,206 (GRCm39) |
M3071K |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,986,103 (GRCm39) |
L872P |
probably damaging |
Het |
| Mgst2 |
T |
A |
3: 51,589,233 (GRCm39) |
L82Q |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,377,756 (GRCm39) |
V399E |
probably benign |
Het |
| Nms |
T |
C |
1: 38,985,147 (GRCm39) |
V91A |
possibly damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,857,016 (GRCm39) |
Y145* |
probably null |
Het |
| Olfml2a |
A |
T |
2: 38,831,753 (GRCm39) |
M111L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,846 (GRCm39) |
N297D |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,779 (GRCm39) |
L172Q |
unknown |
Het |
| Plod3 |
T |
C |
5: 137,018,017 (GRCm39) |
I221T |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,779,872 (GRCm39) |
Q342R |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,521,303 (GRCm39) |
L275F |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,929 (GRCm39) |
T182M |
possibly damaging |
Het |
| Rasgrp2 |
G |
A |
19: 6,458,890 (GRCm39) |
V440M |
probably damaging |
Het |
| Rnf111 |
C |
T |
9: 70,336,846 (GRCm39) |
G947D |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,882,692 (GRCm39) |
M143L |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,373,104 (GRCm39) |
S1386G |
possibly damaging |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,087,975 (GRCm39) |
S242P |
probably damaging |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Spata31d1a |
A |
G |
13: 59,850,982 (GRCm39) |
V382A |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,810,580 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,766,271 (GRCm39) |
|
probably null |
Het |
| Trip10 |
C |
T |
17: 57,560,519 (GRCm39) |
A123V |
probably damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,129 (GRCm39) |
S460P |
probably damaging |
Het |
| Trpd52l3 |
A |
G |
19: 29,981,329 (GRCm39) |
N28S |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,388,232 (GRCm39) |
F265L |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,282,934 (GRCm39) |
C581S |
possibly damaging |
Het |
| Uckl1 |
A |
G |
2: 181,211,293 (GRCm39) |
V512A |
probably damaging |
Het |
| Usp34 |
A |
T |
11: 23,320,528 (GRCm39) |
M957L |
|
Het |
| Vmn2r57 |
T |
C |
7: 41,078,192 (GRCm39) |
I89V |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,969 (GRCm39) |
C220S |
possibly damaging |
Het |
| Zfp322a |
T |
C |
13: 23,541,437 (GRCm39) |
I102V |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,790,604 (GRCm39) |
D2186G |
probably benign |
Het |
|
| Other mutations in Adgra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Adgra3
|
APN |
5 |
50,183,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:Adgra3
|
APN |
5 |
50,159,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Adgra3
|
APN |
5 |
50,144,899 (GRCm39) |
nonsense |
probably null |
|
|
IGL01665:Adgra3
|
APN |
5 |
50,164,272 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02151:Adgra3
|
APN |
5 |
50,136,484 (GRCm39) |
missense |
probably benign |
|
|
IGL02239:Adgra3
|
APN |
5 |
50,118,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Adgra3
|
APN |
5 |
50,215,900 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02358:Adgra3
|
APN |
5 |
50,215,900 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02938:Adgra3
|
APN |
5 |
50,118,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03028:Adgra3
|
APN |
5 |
50,174,194 (GRCm39) |
missense |
probably benign |
0.30 |
|
aperture
|
UTSW |
5 |
50,156,487 (GRCm39) |
nonsense |
probably null |
|
|
saltatory
|
UTSW |
5 |
50,117,901 (GRCm39) |
missense |
probably benign |
0.09 |
|
ANU74:Adgra3
|
UTSW |
5 |
50,118,380 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0041:Adgra3
|
UTSW |
5 |
50,117,901 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0041:Adgra3
|
UTSW |
5 |
50,117,901 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0121:Adgra3
|
UTSW |
5 |
50,183,128 (GRCm39) |
splice site |
probably benign |
|
|
R0125:Adgra3
|
UTSW |
5 |
50,159,194 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Adgra3
|
UTSW |
5 |
50,121,182 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Adgra3
|
UTSW |
5 |
50,119,099 (GRCm39) |
splice site |
probably benign |
|
|
R0479:Adgra3
|
UTSW |
5 |
50,147,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0505:Adgra3
|
UTSW |
5 |
50,166,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0831:Adgra3
|
UTSW |
5 |
50,128,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Adgra3
|
UTSW |
5 |
50,118,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Adgra3
|
UTSW |
5 |
50,118,503 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1139:Adgra3
|
UTSW |
5 |
50,119,097 (GRCm39) |
splice site |
probably null |
|
|
R1211:Adgra3
|
UTSW |
5 |
50,164,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1370:Adgra3
|
UTSW |
5 |
50,118,129 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1530:Adgra3
|
UTSW |
5 |
50,118,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1703:Adgra3
|
UTSW |
5 |
50,164,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1782:Adgra3
|
UTSW |
5 |
50,129,404 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1843:Adgra3
|
UTSW |
5 |
50,118,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Adgra3
|
UTSW |
5 |
50,159,283 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2281:Adgra3
|
UTSW |
5 |
50,159,222 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2385:Adgra3
|
UTSW |
5 |
50,136,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2426:Adgra3
|
UTSW |
5 |
50,166,791 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3084:Adgra3
|
UTSW |
5 |
50,170,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3086:Adgra3
|
UTSW |
5 |
50,170,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3409:Adgra3
|
UTSW |
5 |
50,159,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Adgra3
|
UTSW |
5 |
50,159,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Adgra3
|
UTSW |
5 |
50,159,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Adgra3
|
UTSW |
5 |
50,118,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4360:Adgra3
|
UTSW |
5 |
50,147,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4475:Adgra3
|
UTSW |
5 |
50,159,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Adgra3
|
UTSW |
5 |
50,117,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Adgra3
|
UTSW |
5 |
50,128,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Adgra3
|
UTSW |
5 |
50,136,298 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4671:Adgra3
|
UTSW |
5 |
50,136,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Adgra3
|
UTSW |
5 |
50,156,537 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5197:Adgra3
|
UTSW |
5 |
50,118,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5208:Adgra3
|
UTSW |
5 |
50,168,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Adgra3
|
UTSW |
5 |
50,118,651 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5435:Adgra3
|
UTSW |
5 |
50,147,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5663:Adgra3
|
UTSW |
5 |
50,156,627 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6038:Adgra3
|
UTSW |
5 |
50,156,487 (GRCm39) |
nonsense |
probably null |
|
|
R6038:Adgra3
|
UTSW |
5 |
50,156,487 (GRCm39) |
nonsense |
probably null |
|
|
R6064:Adgra3
|
UTSW |
5 |
50,117,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6259:Adgra3
|
UTSW |
5 |
50,156,483 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6272:Adgra3
|
UTSW |
5 |
50,166,791 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6293:Adgra3
|
UTSW |
5 |
50,118,189 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6296:Adgra3
|
UTSW |
5 |
50,118,189 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6297:Adgra3
|
UTSW |
5 |
50,118,189 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6352:Adgra3
|
UTSW |
5 |
50,147,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6352:Adgra3
|
UTSW |
5 |
50,136,478 (GRCm39) |
missense |
probably benign |
|
|
R6989:Adgra3
|
UTSW |
5 |
50,164,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Adgra3
|
UTSW |
5 |
50,118,083 (GRCm39) |
missense |
probably benign |
|
|
R7147:Adgra3
|
UTSW |
5 |
50,118,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Adgra3
|
UTSW |
5 |
50,164,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Adgra3
|
UTSW |
5 |
50,216,116 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7508:Adgra3
|
UTSW |
5 |
50,174,209 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7538:Adgra3
|
UTSW |
5 |
50,118,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7579:Adgra3
|
UTSW |
5 |
50,144,977 (GRCm39) |
missense |
probably benign |
|
|
R7951:Adgra3
|
UTSW |
5 |
50,121,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Adgra3
|
UTSW |
5 |
50,121,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8458:Adgra3
|
UTSW |
5 |
50,145,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8486:Adgra3
|
UTSW |
5 |
50,147,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8912:Adgra3
|
UTSW |
5 |
50,118,273 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8955:Adgra3
|
UTSW |
5 |
50,118,731 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9112:Adgra3
|
UTSW |
5 |
50,118,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Adgra3
|
UTSW |
5 |
50,145,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9267:Adgra3
|
UTSW |
5 |
50,155,618 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9312:Adgra3
|
UTSW |
5 |
50,117,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Adgra3
|
UTSW |
5 |
50,118,207 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9614:Adgra3
|
UTSW |
5 |
50,164,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Adgra3
|
UTSW |
5 |
50,170,729 (GRCm39) |
splice site |
probably null |
|
|
RF024:Adgra3
|
UTSW |
5 |
50,170,729 (GRCm39) |
splice site |
probably null |
|
|
RF036:Adgra3
|
UTSW |
5 |
50,215,983 (GRCm39) |
small deletion |
probably benign |
|
|
X0065:Adgra3
|
UTSW |
5 |
50,129,304 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Adgra3
|
UTSW |
5 |
50,136,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Adgra3
|
UTSW |
5 |
50,156,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAAGCACATTCATTTCACTTG -3'
(R):5'- TTCTCCAGATGGTGCAACCG -3'
Sequencing Primer
(F):5'- ACTTGGTAGTAACTCAATTTCCCTTG -3'
(R):5'- TCCAGATGGTGCAACCGTAGATAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation