Incidental Mutation 'R5197:Adgra3'
| ID |
400334 |
| 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 |
042773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50118096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1151
(F1151L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
| AlphaFold |
Q7TT36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030971
AA Change: F1151L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: F1151L
| 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 |
|
| Meta Mutation Damage Score |
0.0822 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
| Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
| Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
| Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
| Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
| Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
| Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
| Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
| H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
| Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
| Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
| Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
| Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
| Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
| Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
| Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
| Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
| Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
| Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
| Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
| Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
| Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
| Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
|
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 |
|
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'- GAATGTCCTTCATTGCTGCCTG -3'
(R):5'- AGGCTCCAAAGTGCACCAATAG -3'
Sequencing Primer
(F):5'- CCTGGCCGGCTTTTAGGTAAG -3'
(R):5'- ATAGCAGCGCAGAGTCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation