Incidental Mutation 'R7538:Adgra3'
ID |
583705 |
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 |
045610-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7538 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50118792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 919
(V919I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030971
AA Change: V919I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: V919I
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: 99.3%
|
Validation Efficiency |
97% (77/79) |
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 |
Adamts8 |
C |
A |
9: 30,864,766 (GRCm39) |
P419H |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,303,213 (GRCm39) |
V113I |
probably damaging |
Het |
Akr1d1 |
T |
A |
6: 37,513,043 (GRCm39) |
I113K |
probably benign |
Het |
Alx3 |
A |
T |
3: 107,511,680 (GRCm39) |
I230F |
probably damaging |
Het |
Apob |
A |
T |
12: 8,052,219 (GRCm39) |
D1220V |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,721,796 (GRCm39) |
L2083P |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,116,373 (GRCm39) |
I907V |
probably benign |
Het |
B4galnt3 |
G |
T |
6: 120,271,384 (GRCm39) |
S46* |
probably null |
Het |
Bfsp1 |
A |
C |
2: 143,673,755 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
A |
11: 118,302,291 (GRCm39) |
R9W |
possibly damaging |
Het |
Ccdc88a |
A |
T |
11: 29,413,370 (GRCm39) |
H636L |
probably benign |
Het |
Cfi |
G |
A |
3: 129,652,464 (GRCm39) |
R297H |
probably benign |
Het |
Cherp |
T |
A |
8: 73,216,263 (GRCm39) |
Q749L |
|
Het |
Clec10a |
A |
G |
11: 70,060,604 (GRCm39) |
D153G |
probably benign |
Het |
Cnga1 |
T |
C |
5: 72,769,723 (GRCm39) |
K99E |
probably benign |
Het |
Cyp2r1 |
A |
T |
7: 114,162,002 (GRCm39) |
V64D |
probably damaging |
Het |
Dact3 |
T |
A |
7: 16,609,443 (GRCm39) |
W32R |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,753 (GRCm39) |
C88R |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,135,782 (GRCm39) |
D1200V |
probably damaging |
Het |
Drosha |
C |
G |
15: 12,926,329 (GRCm39) |
S1262W |
probably damaging |
Het |
Dtnb |
T |
C |
12: 3,823,611 (GRCm39) |
M592T |
possibly damaging |
Het |
Eef2k |
T |
A |
7: 120,491,215 (GRCm39) |
V567E |
probably benign |
Het |
Fem1b |
A |
G |
9: 62,718,449 (GRCm39) |
S47P |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,180,019 (GRCm39) |
E2864G |
probably benign |
Het |
Fscn2 |
A |
G |
11: 120,258,152 (GRCm39) |
N358S |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,818,894 (GRCm39) |
S4876P |
possibly damaging |
Het |
Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,328,603 (GRCm39) |
Y410H |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,686,742 (GRCm39) |
G831D |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,904,194 (GRCm39) |
D228E |
probably benign |
Het |
Hdhd5 |
T |
C |
6: 120,498,257 (GRCm39) |
D114G |
possibly damaging |
Het |
Kcna2 |
A |
G |
3: 107,011,884 (GRCm39) |
Y155C |
probably benign |
Het |
Klc1 |
A |
G |
12: 111,751,879 (GRCm39) |
K441R |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,759,041 (GRCm39) |
L936P |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,979,238 (GRCm39) |
V1197A |
probably benign |
Het |
Mthfsd |
C |
T |
8: 121,825,525 (GRCm39) |
A349T |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,050,427 (GRCm39) |
R123W |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,553,427 (GRCm39) |
I4289F |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,566,747 (GRCm39) |
T1924I |
unknown |
Het |
Mybpc3 |
A |
C |
2: 90,950,832 (GRCm39) |
D220A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,146,587 (GRCm39) |
|
probably null |
Het |
Nectin2 |
A |
G |
7: 19,464,544 (GRCm39) |
W287R |
probably damaging |
Het |
Nipsnap1 |
A |
T |
11: 4,834,089 (GRCm39) |
T114S |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,124,115 (GRCm39) |
S102P |
probably benign |
Het |
Olfml2b |
A |
T |
1: 170,477,402 (GRCm39) |
K179I |
possibly damaging |
Het |
Or4a80 |
G |
T |
2: 89,582,665 (GRCm39) |
P169H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,235,773 (GRCm39) |
M1403V |
probably benign |
Het |
Phf7 |
T |
C |
14: 30,960,386 (GRCm39) |
D284G |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,534 (GRCm39) |
T319A |
possibly damaging |
Het |
Pik3ip1 |
A |
T |
11: 3,283,558 (GRCm39) |
I189F |
probably damaging |
Het |
Pik3r1 |
T |
A |
13: 101,825,914 (GRCm39) |
T371S |
probably damaging |
Het |
Prmt7 |
A |
G |
8: 106,964,018 (GRCm39) |
D304G |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,294,248 (GRCm39) |
V818A |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,959,305 (GRCm39) |
E185G |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 22,999,895 (GRCm39) |
F662V |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,803,411 (GRCm39) |
F70L |
probably benign |
Het |
Rcor1 |
A |
T |
12: 111,034,271 (GRCm39) |
|
probably null |
Het |
Rnasel |
A |
G |
1: 153,630,306 (GRCm39) |
K274R |
probably benign |
Het |
Rsbn1l |
G |
A |
5: 21,101,455 (GRCm39) |
T695I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sema3a |
T |
C |
5: 13,611,787 (GRCm39) |
V351A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,587 (GRCm39) |
L15P |
unknown |
Het |
Siah1a |
G |
A |
8: 87,451,840 (GRCm39) |
R215C |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,011,210 (GRCm39) |
V489D |
possibly damaging |
Het |
Slc22a17 |
A |
G |
14: 55,149,575 (GRCm39) |
I208T |
probably benign |
Het |
Slc36a4 |
G |
A |
9: 15,645,511 (GRCm39) |
V313M |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,023,114 (GRCm39) |
L145* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,053,260 (GRCm39) |
N3362D |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,946,602 (GRCm39) |
L475P |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,329,795 (GRCm39) |
T239K |
probably benign |
Het |
Trmt11 |
T |
G |
10: 30,436,870 (GRCm39) |
D290A |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,225,516 (GRCm39) |
D955V |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,603,101 (GRCm39) |
N257S |
probably benign |
Het |
Usp12 |
T |
C |
5: 146,731,430 (GRCm39) |
T15A |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,971,672 (GRCm39) |
Q526K |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,310,677 (GRCm39) |
|
probably null |
Het |
Zfp689 |
A |
T |
7: 127,044,010 (GRCm39) |
C207S |
probably damaging |
Het |
Zfpl1 |
C |
A |
19: 6,134,432 (GRCm39) |
E18* |
probably null |
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 |
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'- GCTGAGACTGAAAACTGTGC -3'
(R):5'- CGTAGTGAGTACCCCATGTTC -3'
Sequencing Primer
(F):5'- GAGACTGAAAACTGTGCTCGTTCTC -3'
(R):5'- AGTGAGTACCCCATGTTCTCTGTAC -3'
|
Posted On |
2019-10-17 |