Incidental Mutation 'R6038:Adgra3'
ID |
486667 |
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 |
044208-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6038 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 50156487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 414
(Y414*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030971
AA Change: Y414*
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: Y414*
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: ENSMUST00000198818
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (65/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
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 |
|
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'- GGAGATACACAGTCGGAATCC -3'
(R):5'- TCCCTGTTTAGATGGCCCAG -3'
Sequencing Primer
(F):5'- CAGTCGGAATCCCTGATAAGTCTG -3'
(R):5'- TGTTTAGATGGCCCAGGACAC -3'
|
Posted On |
2017-08-16 |