Incidental Mutation 'R2281:Adgra3'
| ID |
243118 |
| 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 |
040280-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2281 (G1)
|
| Quality Score |
185 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50159222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 343
(V343I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
| AlphaFold |
Q7TT36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030971
AA Change: V343I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: V343I
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,352,179 (GRCm39) |
L228S |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,278,136 (GRCm39) |
K3105N |
probably damaging |
Het |
| Abca3 |
T |
A |
17: 24,595,700 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Acadm |
A |
G |
3: 153,638,680 (GRCm39) |
I231T |
possibly damaging |
Het |
| Adamts4 |
A |
T |
1: 171,083,798 (GRCm39) |
Q456L |
probably damaging |
Het |
| Ajuba |
C |
A |
14: 54,814,645 (GRCm39) |
G26V |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,597,455 (GRCm39) |
I145M |
possibly damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,274,981 (GRCm39) |
Q110* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,549,832 (GRCm39) |
D771G |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,216,896 (GRCm39) |
D21G |
probably damaging |
Het |
| Atg13 |
T |
C |
2: 91,509,770 (GRCm39) |
N374S |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,852,365 (GRCm39) |
E160G |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,627 (GRCm39) |
K882E |
probably benign |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp27b1 |
T |
G |
10: 126,884,163 (GRCm39) |
V5G |
probably damaging |
Het |
| Dcaf11 |
G |
T |
14: 55,806,828 (GRCm39) |
*550Y |
probably null |
Het |
| Dhx58 |
A |
G |
11: 100,588,980 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
T |
A |
7: 92,087,249 (GRCm39) |
I881N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,673,673 (GRCm39) |
T407M |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Egln1 |
T |
C |
8: 125,675,153 (GRCm39) |
D214G |
probably benign |
Het |
| Espn |
T |
C |
4: 152,220,002 (GRCm39) |
T47A |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,023,289 (GRCm39) |
I1616V |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,867,463 (GRCm39) |
K52R |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Glod4 |
A |
T |
11: 76,128,635 (GRCm39) |
I70N |
possibly damaging |
Het |
| Gsn |
T |
A |
2: 35,173,930 (GRCm39) |
V2E |
probably benign |
Het |
| H1f2 |
A |
G |
13: 23,922,907 (GRCm39) |
K26E |
probably benign |
Het |
| Hrg |
C |
T |
16: 22,780,059 (GRCm39) |
|
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,113,898 (GRCm39) |
T592A |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,941,472 (GRCm39) |
D521G |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,410 (GRCm39) |
H2744R |
possibly damaging |
Het |
| Lsr |
C |
T |
7: 30,657,770 (GRCm39) |
A397T |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,251,241 (GRCm39) |
M51L |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,734,204 (GRCm39) |
I351V |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,307,084 (GRCm39) |
V250I |
possibly damaging |
Het |
| Mreg |
A |
T |
1: 72,231,223 (GRCm39) |
N78K |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,574,012 (GRCm39) |
D1294G |
probably benign |
Het |
| Nfkb1 |
T |
C |
3: 135,307,282 (GRCm39) |
I548V |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,962 (GRCm39) |
F513S |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Nr3c2 |
C |
A |
8: 77,636,536 (GRCm39) |
H546N |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,002,211 (GRCm39) |
M18L |
probably benign |
Het |
| Or2y1f |
A |
C |
11: 49,184,459 (GRCm39) |
T104P |
probably benign |
Het |
| Or4c109 |
G |
A |
2: 88,817,814 (GRCm39) |
T244I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,590,346 (GRCm39) |
N882S |
unknown |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,227,107 (GRCm39) |
R229L |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,810 (GRCm39) |
G389V |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,851 (GRCm39) |
N249S |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,036,508 (GRCm39) |
I266T |
possibly damaging |
Het |
| Smyd1 |
T |
C |
6: 71,215,660 (GRCm39) |
N100D |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,296,546 (GRCm39) |
F468S |
probably damaging |
Het |
| Stk31 |
C |
T |
6: 49,394,184 (GRCm39) |
T182I |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,082,677 (GRCm39) |
N1982K |
possibly damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,060,786 (GRCm39) |
Y344H |
probably damaging |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,429,029 (GRCm39) |
I870T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,436 (GRCm39) |
L1035Q |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,601 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,976,458 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
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 |
|
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'- GCGGAAAAGTTCAAGCATCTTTG -3'
(R):5'- TATCTTCAGGGTCCCAGTCG -3'
Sequencing Primer
(F):5'- atgGGGACACACACAAAC -3'
(R):5'- GGATCTACTGGAAATTGGGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation