Incidental Mutation 'R6989:Adgra3'
ID |
543130 |
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 |
045095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6989 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50164226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 251
(F251S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: F251S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: F251S
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: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
C |
T |
11: 3,840,076 (GRCm39) |
R107H |
probably damaging |
Het |
4930438A08Rik |
T |
C |
11: 58,178,228 (GRCm39) |
V96A |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,820,611 (GRCm39) |
D1370G |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,634,707 (GRCm39) |
N186Y |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,035,414 (GRCm39) |
V106A |
probably benign |
Het |
Akr1c6 |
T |
A |
13: 4,499,045 (GRCm39) |
I33N |
probably damaging |
Het |
Alk |
A |
C |
17: 72,204,947 (GRCm39) |
M1075R |
probably benign |
Het |
Amh |
A |
G |
10: 80,641,338 (GRCm39) |
Q86R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,611 (GRCm39) |
Y951H |
probably damaging |
Het |
Arhgap26 |
G |
T |
18: 39,232,682 (GRCm39) |
R119L |
probably damaging |
Het |
Arl8a |
A |
G |
1: 135,074,735 (GRCm39) |
K7R |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,937,984 (GRCm39) |
S2638A |
probably benign |
Het |
Ccdc162 |
T |
G |
10: 41,457,349 (GRCm39) |
Q256H |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,940,888 (GRCm39) |
L679Q |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,625,891 (GRCm39) |
H203Q |
probably benign |
Het |
Cpne9 |
A |
T |
6: 113,277,544 (GRCm39) |
D421V |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,308,502 (GRCm39) |
C1212* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,864,791 (GRCm39) |
H736Y |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,971,195 (GRCm39) |
V214E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,028,746 (GRCm39) |
E161G |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,156,637 (GRCm39) |
Y774* |
probably null |
Het |
Enpep |
G |
T |
3: 129,074,599 (GRCm39) |
P717H |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,314 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
C |
T |
13: 63,005,991 (GRCm39) |
A41T |
probably damaging |
Het |
Fbxl21 |
T |
C |
13: 56,674,874 (GRCm39) |
V75A |
probably damaging |
Het |
Fkbp5 |
C |
T |
17: 28,634,919 (GRCm39) |
D197N |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,298 (GRCm39) |
T1206A |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,345,380 (GRCm39) |
V156A |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,901,945 (GRCm39) |
K156R |
probably damaging |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,184,766 (GRCm39) |
E366K |
probably damaging |
Het |
Haao |
T |
C |
17: 84,139,103 (GRCm39) |
Q277R |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,060,753 (GRCm39) |
S694P |
|
Het |
Lrp10 |
A |
G |
14: 54,705,950 (GRCm39) |
D380G |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,302,799 (GRCm39) |
D2977Y |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,454,065 (GRCm39) |
M985K |
probably benign |
Het |
Met |
C |
A |
6: 17,535,927 (GRCm39) |
N784K |
possibly damaging |
Het |
Met |
T |
A |
6: 17,535,928 (GRCm39) |
Y65N |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,226,246 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
A |
7: 26,980,265 (GRCm39) |
W416R |
probably damaging |
Het |
Nup160 |
G |
A |
2: 90,537,364 (GRCm39) |
S746N |
probably benign |
Het |
Pcca |
G |
A |
14: 122,887,700 (GRCm39) |
G102D |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,163 (GRCm39) |
Y493F |
possibly damaging |
Het |
Psmc2 |
T |
A |
5: 22,006,217 (GRCm39) |
F243L |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rpn1 |
G |
T |
6: 88,076,285 (GRCm39) |
V357L |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,433,856 (GRCm39) |
F712S |
possibly damaging |
Het |
Scgb1b10 |
T |
A |
7: 31,800,574 (GRCm39) |
D54E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,315,395 (GRCm39) |
I1771T |
probably damaging |
Het |
Sec14l1 |
A |
G |
11: 117,047,220 (GRCm39) |
I633V |
probably damaging |
Het |
Slc17a6 |
T |
C |
7: 51,311,224 (GRCm39) |
Y313H |
possibly damaging |
Het |
Slc18a1 |
G |
A |
8: 69,491,514 (GRCm39) |
T500I |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,813,702 (GRCm39) |
A93V |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,107,974 (GRCm39) |
S148P |
probably benign |
Het |
Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trav3-3 |
C |
A |
14: 53,903,802 (GRCm39) |
P40Q |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,602,390 (GRCm39) |
L332Q |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,897,033 (GRCm39) |
V55G |
probably damaging |
Het |
Ufm1 |
T |
C |
3: 53,765,402 (GRCm39) |
K69E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,614,102 (GRCm39) |
D1284G |
probably benign |
Het |
Vil1 |
C |
T |
1: 74,463,113 (GRCm39) |
T432I |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,448,727 (GRCm39) |
I567K |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,646,488 (GRCm39) |
V1023D |
probably damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,080 (GRCm39) |
Y455H |
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 |
|
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'- ATCAGGCGAAAGGAATGTCC -3'
(R):5'- CTTCTGCTAGCATCAAGGCTATC -3'
Sequencing Primer
(F):5'- GCAATCCACAGATTCTGGCTAGG -3'
(R):5'- CTAGCATCAAGGCTATCTGTGGC -3'
|
Posted On |
2018-11-28 |