Incidental Mutation 'R9614:Adgra3'
ID |
724427 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9614 (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 50164250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 243
(V243A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
AlphaFold |
Q7TT36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: V243A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030971 Gene: ENSMUSG00000029090 AA Change: V243A
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: 99.6%
- 20x: 98.9%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
T |
19: 3,767,364 (GRCm39) |
T317I |
possibly damaging |
Het |
Adamts7 |
T |
A |
9: 90,077,251 (GRCm39) |
V1306E |
probably damaging |
Het |
Adcy9 |
C |
T |
16: 4,106,547 (GRCm39) |
D1093N |
probably damaging |
Het |
Aqp4 |
C |
T |
18: 15,526,687 (GRCm39) |
A265T |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,970,119 (GRCm39) |
|
probably null |
Het |
Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
Best2 |
A |
C |
8: 85,740,051 (GRCm39) |
C38G |
|
Het |
Bicra |
A |
T |
7: 15,705,880 (GRCm39) |
S1520R |
probably damaging |
Het |
C1s2 |
A |
G |
6: 124,602,588 (GRCm39) |
L541P |
probably damaging |
Het |
Calcoco2 |
T |
A |
11: 95,991,185 (GRCm39) |
H184L |
probably benign |
Het |
Cav1 |
A |
T |
6: 17,339,403 (GRCm39) |
I163F |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,597,563 (GRCm39) |
H356R |
probably damaging |
Het |
Clu |
A |
C |
14: 66,208,851 (GRCm39) |
H32P |
unknown |
Het |
Col5a1 |
T |
A |
2: 27,879,186 (GRCm39) |
D840E |
unknown |
Het |
Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,208,239 (GRCm39) |
V1239L |
probably benign |
Het |
Cubn |
T |
A |
2: 13,482,945 (GRCm39) |
Q267L |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,975,212 (GRCm39) |
R1689W |
probably damaging |
Het |
Dao |
A |
T |
5: 114,152,060 (GRCm39) |
D126V |
probably benign |
Het |
Eif3l |
T |
C |
15: 78,978,423 (GRCm39) |
M560T |
probably benign |
Het |
F830016B08Rik |
T |
A |
18: 60,433,379 (GRCm39) |
I154N |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,517,144 (GRCm39) |
E980G |
probably damaging |
Het |
Fgf21 |
T |
C |
7: 45,264,703 (GRCm39) |
T10A |
probably benign |
Het |
Fhad1 |
A |
C |
4: 141,678,882 (GRCm39) |
V598G |
possibly damaging |
Het |
Foxc1 |
A |
T |
13: 31,991,863 (GRCm39) |
I225F |
possibly damaging |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,744,047 (GRCm39) |
G294S |
probably damaging |
Het |
Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
Idh2 |
A |
T |
7: 79,747,925 (GRCm39) |
Y258* |
probably null |
Het |
Immp2l |
T |
C |
12: 41,160,933 (GRCm39) |
V77A |
probably damaging |
Het |
Isl1 |
T |
C |
13: 116,441,924 (GRCm39) |
E103G |
|
Het |
Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
Kcnj6 |
G |
A |
16: 94,633,307 (GRCm39) |
T268I |
probably damaging |
Het |
Lgals3bp |
A |
G |
11: 118,284,037 (GRCm39) |
V514A |
probably benign |
Het |
Mcfd2 |
A |
T |
17: 87,565,421 (GRCm39) |
H27Q |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,364,769 (GRCm39) |
W537R |
probably damaging |
Het |
Mybl2 |
G |
T |
2: 162,906,225 (GRCm39) |
G102V |
probably damaging |
Het |
Nars2 |
C |
T |
7: 96,689,125 (GRCm39) |
T349M |
probably damaging |
Het |
Nat8f3 |
A |
T |
6: 85,738,708 (GRCm39) |
V18E |
|
Het |
Npepps |
T |
C |
11: 97,149,177 (GRCm39) |
E115G |
probably benign |
Het |
Odad3 |
T |
C |
9: 21,904,310 (GRCm39) |
D322G |
probably benign |
Het |
Oog2 |
T |
A |
4: 143,922,707 (GRCm39) |
V324E |
probably damaging |
Het |
Or2y12 |
T |
A |
11: 49,426,071 (GRCm39) |
W20R |
probably damaging |
Het |
Or7g12 |
A |
T |
9: 18,899,526 (GRCm39) |
M81L |
possibly damaging |
Het |
Or8d2b |
G |
A |
9: 38,789,281 (GRCm39) |
V270M |
probably damaging |
Het |
Or8j3b |
A |
G |
2: 86,205,012 (GRCm39) |
V248A |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,375,486 (GRCm39) |
S1550P |
probably damaging |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pms2 |
T |
C |
5: 143,854,420 (GRCm39) |
V243A |
probably benign |
Het |
Ptpn9 |
A |
G |
9: 56,944,005 (GRCm39) |
D293G |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,203,441 (GRCm39) |
K1784R |
probably damaging |
Het |
Rab23 |
CAA |
CA |
1: 33,764,077 (GRCm39) |
|
probably null |
Het |
Raf1 |
T |
C |
6: 115,596,597 (GRCm39) |
N576D |
probably benign |
Het |
Rasa4 |
C |
A |
5: 136,140,343 (GRCm39) |
H782Q |
possibly damaging |
Het |
Rims1 |
C |
A |
1: 22,491,969 (GRCm39) |
E168* |
probably null |
Het |
Rpgrip1l |
A |
T |
8: 91,987,434 (GRCm39) |
N874K |
possibly damaging |
Het |
Rxfp4 |
C |
T |
3: 88,559,969 (GRCm39) |
V161I |
possibly damaging |
Het |
Scel |
G |
A |
14: 103,843,032 (GRCm39) |
G558D |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,196,565 (GRCm39) |
K723R |
probably null |
Het |
Slc12a1 |
A |
T |
2: 125,002,445 (GRCm39) |
R142W |
probably damaging |
Het |
Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
Sox4 |
C |
T |
13: 29,136,079 (GRCm39) |
G309D |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,223,476 (GRCm39) |
T111A |
probably benign |
Het |
Tgfa |
G |
A |
6: 86,248,397 (GRCm39) |
R133H |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,345,754 (GRCm39) |
S1836P |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,138,328 (GRCm39) |
D292G |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,141,160 (GRCm39) |
I657T |
probably benign |
Het |
Tmprss11c |
G |
A |
5: 86,383,379 (GRCm39) |
T349I |
probably benign |
Het |
Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
Tsc22d1 |
T |
G |
14: 76,653,983 (GRCm39) |
I154S |
probably damaging |
Het |
Vmn1r2 |
T |
C |
4: 3,172,587 (GRCm39) |
Y169H |
probably damaging |
Het |
Vmn1r77 |
G |
T |
7: 11,775,766 (GRCm39) |
V181L |
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 |
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 |
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'- ACTGTACCTGGCGATCAAGG -3'
(R):5'- AAGCTTCCAGGACATGACC -3'
Sequencing Primer
(F):5'- TCAAGGAGCAATTGTGAATCATGC -3'
(R):5'- ATAGCTCCGACTGGACTGGAC -3'
|
Posted On |
2022-09-12 |