Incidental Mutation 'R4569:Adgra3'
ID |
341989 |
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 |
041793-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50117905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 1214
(L1214F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: L1214F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: L1214F
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 |
|
Meta Mutation Damage Score |
0.0837 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (87/88) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,262 (GRCm39) |
T322A |
probably benign |
Het |
Abhd13 |
C |
T |
8: 10,038,071 (GRCm39) |
P223S |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,927,373 (GRCm39) |
P120Q |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,739,556 (GRCm39) |
Y277C |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,618,166 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,290,343 (GRCm39) |
V1746D |
probably damaging |
Het |
C1qtnf7 |
T |
A |
5: 43,766,549 (GRCm39) |
N49K |
possibly damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,811 (GRCm39) |
D587V |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,389,359 (GRCm39) |
|
probably null |
Het |
Cdk2ap2 |
T |
C |
19: 4,147,879 (GRCm39) |
F49L |
possibly damaging |
Het |
Cdon |
A |
T |
9: 35,388,265 (GRCm39) |
I747F |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,029 (GRCm39) |
R508W |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,154,831 (GRCm39) |
L87P |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,683,834 (GRCm39) |
R66C |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,818 (GRCm39) |
P3871S |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,373 (GRCm39) |
|
probably null |
Het |
Dph1 |
A |
T |
11: 75,069,721 (GRCm39) |
|
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,008 (GRCm39) |
I382T |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,652,780 (GRCm39) |
Y726H |
probably damaging |
Het |
Fbxo32 |
A |
G |
15: 58,044,873 (GRCm39) |
F353L |
probably damaging |
Het |
Fchsd2 |
G |
A |
7: 100,926,809 (GRCm39) |
G657D |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,559 (GRCm39) |
E44V |
possibly damaging |
Het |
Gjb2 |
C |
T |
14: 57,337,762 (GRCm39) |
V149I |
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,898,317 (GRCm39) |
M141V |
probably benign |
Het |
Gnaq |
T |
C |
19: 16,312,370 (GRCm39) |
S211P |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,299,142 (GRCm39) |
R527G |
probably benign |
Het |
Gns |
A |
G |
10: 121,217,083 (GRCm39) |
Q286R |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,397 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
C |
2: 31,097,677 (GRCm39) |
|
probably benign |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,857 (GRCm39) |
D124E |
probably damaging |
Het |
Hbp1 |
T |
A |
12: 32,000,231 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,230,875 (GRCm39) |
T371I |
unknown |
Het |
Ints2 |
A |
G |
11: 86,147,024 (GRCm39) |
C41R |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Jph4 |
G |
T |
14: 55,352,503 (GRCm39) |
R77S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,413,507 (GRCm39) |
I331F |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,698 (GRCm39) |
R30Q |
probably damaging |
Het |
Mgst1 |
C |
A |
6: 138,133,213 (GRCm39) |
T176K |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,914,013 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
C |
T |
8: 32,407,802 (GRCm39) |
V144I |
probably benign |
Het |
Ntmt2 |
T |
A |
1: 163,530,586 (GRCm39) |
*284C |
probably null |
Het |
Or1ad8 |
T |
C |
11: 50,898,381 (GRCm39) |
I194T |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Pex11b |
A |
T |
3: 96,551,330 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,994,593 (GRCm39) |
|
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,174,044 (GRCm39) |
R359Q |
possibly damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,377,473 (GRCm39) |
P562S |
unknown |
Het |
Rdx |
A |
G |
9: 51,980,141 (GRCm39) |
I245V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rhob |
T |
G |
12: 8,549,373 (GRCm39) |
D87A |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,060 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
G |
T |
7: 29,025,287 (GRCm39) |
P619Q |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,606,496 (GRCm39) |
*896C |
probably null |
Het |
Stradb |
C |
T |
1: 59,019,117 (GRCm39) |
R13* |
probably null |
Het |
Tbx21 |
G |
A |
11: 97,005,581 (GRCm39) |
A128V |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,062,197 (GRCm39) |
C2552S |
probably benign |
Het |
Tgif1 |
A |
T |
17: 71,151,912 (GRCm39) |
V233E |
possibly damaging |
Het |
Trim31 |
A |
T |
17: 37,209,633 (GRCm39) |
I130L |
probably benign |
Het |
Trrap |
C |
T |
5: 144,728,928 (GRCm39) |
T614I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,766,758 (GRCm39) |
V3107F |
probably damaging |
Het |
Txnrd2 |
T |
G |
16: 18,274,956 (GRCm39) |
D322E |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,315 (GRCm39) |
|
probably null |
Het |
Usp43 |
C |
T |
11: 67,789,788 (GRCm39) |
C252Y |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,766,178 (GRCm39) |
L744* |
probably null |
Het |
Vmn2r71 |
A |
C |
7: 85,273,402 (GRCm39) |
K739Q |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,284,124 (GRCm39) |
T653M |
probably benign |
Het |
Wdr83os |
T |
A |
8: 85,808,495 (GRCm39) |
S82R |
probably damaging |
Het |
Xpo6 |
T |
A |
7: 125,727,427 (GRCm39) |
L526F |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,466,894 (GRCm39) |
V2351I |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
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 |
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 |
R9108:Adgra3
|
UTSW |
5 |
50,136,295 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCAAGTTCAGGCCGTAAGATTTC -3'
(R):5'- ATGCATGTGGCTCCTTTAGAC -3'
Sequencing Primer
(F):5'- CAGGCCGTAAGATTTCTGCTGAC -3'
(R):5'- CTTTAGACGTGCAGTTTCGAAC -3'
|
Posted On |
2015-09-24 |