Incidental Mutation 'R1703:Adgra3'
ID |
189875 |
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 |
039736-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1703 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50164117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 287
(M287I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030971
AA Change: M287I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: M287I
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: ENSMUST00000196229
|
Meta Mutation Damage Score |
0.0651 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
Validation Efficiency |
99% (86/87) |
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 |
2310057M21Rik |
A |
T |
7: 130,945,431 (GRCm39) |
Y401* |
probably null |
Het |
4932415M13Rik |
C |
A |
17: 54,032,065 (GRCm39) |
|
noncoding transcript |
Het |
Abtb3 |
A |
G |
10: 85,223,248 (GRCm39) |
D19G |
unknown |
Het |
Acoxl |
T |
A |
2: 127,820,692 (GRCm39) |
S81R |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,584,924 (GRCm39) |
C915R |
probably damaging |
Het |
Afg1l |
T |
G |
10: 42,276,395 (GRCm39) |
D250A |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Amfr |
T |
C |
8: 94,700,871 (GRCm39) |
T530A |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,723,415 (GRCm39) |
V971M |
probably damaging |
Het |
App |
A |
G |
16: 84,762,656 (GRCm39) |
S656P |
probably damaging |
Het |
Arid5a |
T |
A |
1: 36,358,656 (GRCm39) |
|
probably null |
Het |
Asic5 |
T |
A |
3: 81,907,029 (GRCm39) |
V60D |
possibly damaging |
Het |
Atm |
G |
T |
9: 53,412,000 (GRCm39) |
H1019N |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,807,466 (GRCm39) |
K277R |
probably benign |
Het |
Chrna7 |
C |
T |
7: 62,749,255 (GRCm39) |
R409H |
probably damaging |
Het |
Chrng |
A |
T |
1: 87,138,628 (GRCm39) |
N419I |
possibly damaging |
Het |
Ciao1 |
T |
C |
2: 127,087,739 (GRCm39) |
S199G |
probably benign |
Het |
Clstn2 |
A |
T |
9: 97,340,290 (GRCm39) |
M694K |
possibly damaging |
Het |
Cpeb2 |
A |
G |
5: 43,391,181 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
T |
A |
19: 39,864,810 (GRCm39) |
I223F |
probably benign |
Het |
Dennd1b |
A |
T |
1: 139,097,492 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
T |
11: 117,917,575 (GRCm39) |
L4162Q |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,213,463 (GRCm39) |
M506V |
probably benign |
Het |
Ecsit |
A |
G |
9: 21,986,107 (GRCm39) |
V173A |
probably damaging |
Het |
Fam13b |
T |
C |
18: 34,584,492 (GRCm39) |
|
probably null |
Het |
Fgl2 |
T |
A |
5: 21,577,730 (GRCm39) |
W6R |
possibly damaging |
Het |
Galnt9 |
G |
A |
5: 110,767,038 (GRCm39) |
R503H |
probably damaging |
Het |
Gramd1a |
C |
T |
7: 30,838,959 (GRCm39) |
V247M |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,754,379 (GRCm39) |
I632N |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,286,462 (GRCm39) |
V3627A |
probably damaging |
Het |
Ipo8 |
T |
C |
6: 148,691,390 (GRCm39) |
Y660C |
probably benign |
Het |
Isg15 |
T |
C |
4: 156,284,265 (GRCm39) |
R88G |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,730,870 (GRCm39) |
D388E |
probably benign |
Het |
Jhy |
T |
C |
9: 40,856,133 (GRCm39) |
Y118C |
probably damaging |
Het |
Kalrn |
G |
A |
16: 34,025,696 (GRCm39) |
T931M |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,833,250 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,142,667 (GRCm39) |
Y604N |
probably damaging |
Het |
Lrp3 |
T |
G |
7: 34,912,586 (GRCm39) |
S34R |
possibly damaging |
Het |
Lrrc37 |
C |
T |
11: 103,431,700 (GRCm39) |
V1372I |
probably benign |
Het |
Lyn |
T |
C |
4: 3,738,867 (GRCm39) |
|
probably null |
Het |
Mroh8 |
C |
T |
2: 157,113,896 (GRCm39) |
V132I |
probably benign |
Het |
Mthfd1l |
T |
C |
10: 4,098,093 (GRCm39) |
F977L |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,820,933 (GRCm39) |
T912M |
possibly damaging |
Het |
Nrxn1 |
A |
T |
17: 90,515,845 (GRCm39) |
N169K |
probably damaging |
Het |
Oplah |
A |
G |
15: 76,180,867 (GRCm39) |
Y1279H |
probably benign |
Het |
Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
Or4c101 |
T |
A |
2: 88,390,599 (GRCm39) |
M262K |
possibly damaging |
Het |
Pcsk5 |
T |
C |
19: 17,729,458 (GRCm39) |
N129S |
probably benign |
Het |
Pcyt2 |
G |
T |
11: 120,503,894 (GRCm39) |
P185T |
probably benign |
Het |
Pdlim2 |
A |
G |
14: 70,411,784 (GRCm39) |
|
probably null |
Het |
Pgs1 |
T |
C |
11: 117,905,554 (GRCm39) |
|
probably benign |
Het |
Qprt |
A |
G |
7: 126,707,343 (GRCm39) |
V251A |
probably benign |
Het |
Rasal2 |
A |
C |
1: 156,985,170 (GRCm39) |
L834R |
probably damaging |
Het |
Reg1 |
T |
C |
6: 78,405,432 (GRCm39) |
C161R |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,415,392 (GRCm39) |
I1907F |
probably damaging |
Het |
S1pr5 |
T |
C |
9: 21,155,346 (GRCm39) |
D360G |
possibly damaging |
Het |
Sart3 |
C |
A |
5: 113,890,280 (GRCm39) |
V482F |
probably benign |
Het |
Scarf2 |
A |
G |
16: 17,620,713 (GRCm39) |
E127G |
probably damaging |
Het |
Serinc5 |
T |
C |
13: 92,825,305 (GRCm39) |
S245P |
probably damaging |
Het |
Serpinc1 |
G |
T |
1: 160,821,087 (GRCm39) |
R57L |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Sgca |
A |
T |
11: 94,860,217 (GRCm39) |
L307M |
probably damaging |
Het |
Slc7a9 |
C |
A |
7: 35,154,000 (GRCm39) |
Q208K |
probably benign |
Het |
Slfn10-ps |
C |
T |
11: 82,920,869 (GRCm39) |
|
noncoding transcript |
Het |
Spam1 |
A |
T |
6: 24,796,256 (GRCm39) |
D69V |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,673,365 (GRCm39) |
E1490G |
probably benign |
Het |
Tbc1d22a |
G |
T |
15: 86,123,416 (GRCm39) |
D150Y |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tlx1 |
A |
G |
19: 45,144,443 (GRCm39) |
D55G |
possibly damaging |
Het |
Tram2 |
G |
T |
1: 21,074,458 (GRCm39) |
N241K |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,523,744 (GRCm39) |
Y325C |
probably damaging |
Het |
Ubac2 |
T |
A |
14: 122,142,582 (GRCm39) |
S27T |
probably benign |
Het |
Utrn |
G |
A |
10: 12,603,473 (GRCm39) |
|
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,741,828 (GRCm39) |
M378L |
probably benign |
Het |
Vps18 |
T |
A |
2: 119,119,538 (GRCm39) |
D6E |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,989,134 (GRCm39) |
I253F |
probably benign |
Het |
Yeats4 |
A |
T |
10: 117,051,628 (GRCm39) |
C210S |
probably benign |
Het |
Zdhhc20 |
A |
G |
14: 58,076,545 (GRCm39) |
|
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 |
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'- ATGGTGAAAGGGCGGTGATTCC -3'
(R):5'- TCTCTGTGTGGTGCATGAACAGC -3'
Sequencing Primer
(F):5'- TCTTCCAAAACTAGATGAGGAGATAG -3'
(R):5'- GGGCTTCTGTTCACTCGGTC -3'
|
Posted On |
2014-05-14 |