Incidental Mutation 'R8912:Adgra3'
| ID |
678680 |
| 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 |
068765-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8912 (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 A
at 50118273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1092
(A1092S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
| AlphaFold |
Q7TT36 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030971
AA Change: A1092S
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: A1092S
| 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 |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
C |
T |
5: 113,861,767 (GRCm39) |
W34* |
probably null |
Het |
| Adck5 |
T |
C |
15: 76,477,435 (GRCm39) |
S90P |
probably damaging |
Het |
| Arhgap33 |
A |
T |
7: 30,232,467 (GRCm39) |
|
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,979 (GRCm39) |
|
probably null |
Het |
| Brd2 |
A |
T |
17: 34,332,458 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,097 (GRCm39) |
|
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,599 (GRCm39) |
V108A |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,323 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,689,869 (GRCm39) |
H22L |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,468,513 (GRCm39) |
Y251C |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,878 (GRCm39) |
N273K |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,531,164 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ercc6 |
C |
T |
14: 32,248,211 (GRCm39) |
P254L |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,240,420 (GRCm39) |
E789G |
possibly damaging |
Het |
| Fbxl13 |
T |
G |
5: 21,727,184 (GRCm39) |
D571A |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,717 (GRCm39) |
E159V |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 8,019,778 (GRCm39) |
I134V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,938 (GRCm39) |
D2419G |
probably benign |
Het |
| Gm3371 |
T |
C |
14: 44,641,238 (GRCm39) |
K109E |
|
Het |
| Gm5414 |
A |
G |
15: 101,536,620 (GRCm39) |
S2P |
possibly damaging |
Het |
| Igkv1-110 |
G |
T |
6: 68,247,950 (GRCm39) |
D20Y |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,603,513 (GRCm39) |
D422G |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,655 (GRCm39) |
D592E |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,159,368 (GRCm39) |
I215T |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,424 (GRCm39) |
L590Q |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,680,929 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
G |
18: 86,479,173 (GRCm39) |
D159G |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,220,030 (GRCm38) |
K104E |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,366 (GRCm39) |
V1256A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Or13e8 |
T |
A |
4: 43,697,017 (GRCm39) |
D52V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Or9m1b |
C |
T |
2: 87,836,661 (GRCm39) |
A145T |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,385,565 (GRCm39) |
H444R |
|
Het |
| Pclo |
T |
C |
5: 14,825,335 (GRCm39) |
L1356P |
|
Het |
| Pde4dip |
A |
G |
3: 97,617,633 (GRCm39) |
S1732P |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,230 (GRCm39) |
I25N |
|
Het |
| Pira13 |
A |
T |
7: 3,825,818 (GRCm39) |
D350E |
unknown |
Het |
| Pou2f3 |
C |
A |
9: 43,110,336 (GRCm39) |
V30L |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
A |
4: 43,938,802 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,475,323 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
C |
10: 57,400,075 (GRCm39) |
S191A |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,056,560 (GRCm39) |
S915P |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,486 (GRCm39) |
T79A |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,069,919 (GRCm39) |
V207A |
possibly damaging |
Het |
| Skap1 |
A |
T |
11: 96,644,902 (GRCm39) |
I338F |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,305,361 (GRCm39) |
|
probably benign |
Het |
| Sowahc |
G |
T |
10: 59,057,813 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,875,136 (GRCm39) |
K800E |
possibly damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,433 (GRCm39) |
W151R |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,623,686 (GRCm39) |
T438A |
possibly damaging |
Het |
| Srrm2 |
A |
G |
17: 24,038,575 (GRCm39) |
T1740A |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,534,014 (GRCm39) |
S347C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,566,860 (GRCm39) |
S185P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,758,153 (GRCm39) |
T638I |
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,478 (GRCm39) |
Y472H |
probably damaging |
Het |
| Trav4-2 |
C |
G |
14: 53,656,266 (GRCm39) |
Y89* |
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,918,628 (GRCm39) |
R1540L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,770,367 (GRCm39) |
|
probably null |
Het |
| Tti1 |
A |
G |
2: 157,851,188 (GRCm39) |
V17A |
probably benign |
Het |
| Vamp8 |
A |
G |
6: 72,365,276 (GRCm39) |
L44P |
probably benign |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,131 (GRCm39) |
S167Y |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,891,913 (GRCm39) |
V710A |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,374,655 (GRCm39) |
D453G |
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 |
|
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'- GCACGTTTGTTCGAAACTGC -3'
(R):5'- CCACTTGTTTAAGCTTCAGTGC -3'
Sequencing Primer
(F):5'- TGTTCGAAACTGCACGTCTAAAGG -3'
(R):5'- CAGTGCTTTCATGATGGTGCACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation