Incidental Mutation 'R0831:Adgra3'
ID |
77531 |
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 |
039010-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0831 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50128144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 779
(I779N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: I779N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: I779N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196177
|
Meta Mutation Damage Score |
0.5809 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.0%
|
Validation Efficiency |
95% (82/86) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
C |
T |
7: 12,284,523 (GRCm39) |
|
probably benign |
Het |
3425401B19Rik |
T |
C |
14: 32,384,228 (GRCm39) |
N579S |
probably benign |
Het |
Adck1 |
G |
T |
12: 88,335,118 (GRCm39) |
M1I |
probably null |
Het |
Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
Afg3l2 |
A |
C |
18: 67,554,297 (GRCm39) |
F468L |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,605,502 (GRCm39) |
I2384N |
probably benign |
Het |
Ankrd13b |
A |
T |
11: 77,363,585 (GRCm39) |
S244R |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,378,842 (GRCm39) |
H1030Q |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,973,092 (GRCm39) |
|
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,098,332 (GRCm39) |
S187P |
probably damaging |
Het |
B4galt4 |
G |
T |
16: 38,588,341 (GRCm39) |
E57D |
probably benign |
Het |
Cad |
T |
C |
5: 31,224,944 (GRCm39) |
V949A |
probably damaging |
Het |
Cadps2 |
C |
T |
6: 23,321,739 (GRCm39) |
S1051N |
possibly damaging |
Het |
Ccdc66 |
C |
T |
14: 27,219,313 (GRCm39) |
V148I |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,400,045 (GRCm39) |
P55S |
probably damaging |
Het |
Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
Cep95 |
A |
G |
11: 106,705,530 (GRCm39) |
D548G |
probably benign |
Het |
Chil3 |
A |
G |
3: 106,057,063 (GRCm39) |
Y294H |
probably benign |
Het |
Chmp5 |
A |
G |
4: 40,949,500 (GRCm39) |
D39G |
probably damaging |
Het |
Chrd |
T |
A |
16: 20,560,059 (GRCm39) |
F887I |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,034,520 (GRCm39) |
G580V |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,439,939 (GRCm39) |
N655K |
probably damaging |
Het |
Ctsf |
A |
T |
19: 4,909,868 (GRCm39) |
Y416F |
possibly damaging |
Het |
Dennd5a |
A |
C |
7: 109,533,961 (GRCm39) |
V77G |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,795,108 (GRCm39) |
K460* |
probably null |
Het |
Dnah17 |
A |
T |
11: 117,951,097 (GRCm39) |
M2842K |
probably damaging |
Het |
Dnajc13 |
C |
A |
9: 104,049,811 (GRCm39) |
G1765V |
probably damaging |
Het |
Donson |
A |
C |
16: 91,480,651 (GRCm39) |
C243W |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,985,961 (GRCm39) |
N817I |
possibly damaging |
Het |
Eef1d |
G |
A |
15: 75,768,655 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 140,010,279 (GRCm39) |
D19V |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gm9867 |
C |
A |
4: 140,049,799 (GRCm39) |
A128S |
unknown |
Het |
Igsf23 |
G |
T |
7: 19,675,662 (GRCm39) |
|
probably benign |
Het |
Inhca |
T |
C |
9: 103,146,978 (GRCm39) |
H292R |
possibly damaging |
Het |
Kdm7a |
C |
A |
6: 39,143,699 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,453,609 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,537,990 (GRCm39) |
N1229D |
possibly damaging |
Het |
Mrps11 |
C |
A |
7: 78,441,611 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,707,409 (GRCm39) |
D248E |
probably damaging |
Het |
Myrfl |
C |
A |
10: 116,619,114 (GRCm39) |
S748I |
probably benign |
Het |
Nop14 |
T |
C |
5: 34,807,864 (GRCm39) |
E366G |
possibly damaging |
Het |
Or13c3 |
T |
G |
4: 52,855,764 (GRCm39) |
I250L |
possibly damaging |
Het |
Or2w25 |
C |
T |
11: 59,504,480 (GRCm39) |
T230I |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,247,338 (GRCm39) |
I272V |
probably benign |
Het |
Or7e177 |
T |
A |
9: 20,211,861 (GRCm39) |
C123S |
probably benign |
Het |
Or8g2b |
C |
T |
9: 39,751,579 (GRCm39) |
P283L |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,476,366 (GRCm39) |
E29* |
probably null |
Het |
Plppr4 |
A |
G |
3: 117,125,295 (GRCm39) |
|
probably null |
Het |
Prmt2 |
A |
C |
10: 76,043,641 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
A |
7: 30,193,649 (GRCm39) |
Y114* |
probably null |
Het |
Prr23a2 |
C |
A |
9: 98,738,917 (GRCm39) |
H92N |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rdx |
C |
A |
9: 51,977,117 (GRCm39) |
A122E |
probably damaging |
Het |
Rspo3 |
T |
G |
10: 29,330,253 (GRCm39) |
D236A |
unknown |
Het |
Sdk2 |
A |
T |
11: 113,723,084 (GRCm39) |
D1302E |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,710,382 (GRCm39) |
D209E |
probably damaging |
Het |
Sirpa |
T |
G |
2: 129,469,856 (GRCm39) |
|
probably benign |
Het |
Ska1 |
A |
C |
18: 74,330,570 (GRCm39) |
|
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,668,331 (GRCm39) |
|
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,631,172 (GRCm39) |
V602A |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,959,533 (GRCm39) |
V543A |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,682,433 (GRCm39) |
L489F |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,982,365 (GRCm39) |
|
probably benign |
Het |
Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
Spindoc |
G |
T |
19: 7,352,100 (GRCm39) |
N82K |
probably benign |
Het |
Stk17b |
C |
A |
1: 53,796,651 (GRCm39) |
C372F |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,428,052 (GRCm39) |
|
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,963,267 (GRCm39) |
T127I |
probably benign |
Het |
Togaram2 |
G |
T |
17: 72,023,439 (GRCm39) |
R765L |
probably damaging |
Het |
Tprg1 |
A |
G |
16: 25,136,219 (GRCm39) |
Y70C |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,215,325 (GRCm39) |
Y1050H |
probably damaging |
Het |
Vmn1r205 |
T |
A |
13: 22,776,586 (GRCm39) |
D172V |
probably benign |
Het |
Vmn1r79 |
A |
T |
7: 11,910,990 (GRCm39) |
N291Y |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,833,980 (GRCm39) |
N549K |
probably damaging |
Het |
Vrk3 |
T |
A |
7: 44,414,227 (GRCm39) |
L241Q |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,969,744 (GRCm39) |
S386P |
probably 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 |
|
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 |
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'- ACTGTGAGACTGCTTAGTGGACAGG -3'
(R):5'- GCCACGCATGTAATTCAGGCTTC -3'
Sequencing Primer
(F):5'- TTAGTGGACAGGCACTGGG -3'
(R):5'- GCATGTAATTCAGGCTTCTTCAAC -3'
|
Posted On |
2013-10-16 |