Incidental Mutation 'R4671:Adgra3'
| ID |
348423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra3
|
| Ensembl Gene |
ENSMUSG00000029090 |
| Gene Name |
adhesion G protein-coupled receptor A3 |
| Synonyms |
Tem5-like, 3830613O22Rik, Gpr125 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4671 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
50117293-50216338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50136710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 661
(T661M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030971]
|
| AlphaFold |
Q7TT36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030971
AA Change: T661M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: T661M
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
| Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
| Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
| Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
| Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
| Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
| Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
| Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
| Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
| Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
| Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
| Dzip3 |
G |
A |
16: 48,799,953 (GRCm39) |
Q112* |
probably null |
Het |
| Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
| Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
| Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
| Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,226,500 (GRCm39) |
I139F |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
| Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
| Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
| Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
| Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
| Mast2 |
A |
G |
4: 116,165,847 (GRCm39) |
S1287P |
probably damaging |
Het |
| Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
| Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
| Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
| Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
| Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
| Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
| Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
| Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
| Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
| Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
| Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
| Ttc7 |
T |
A |
17: 87,654,048 (GRCm39) |
L575Q |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
| Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
| Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
|
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'- TGCACCATCTGGAGAAAATGGG -3'
(R):5'- AACACCATCATGGAGGCCTC -3'
Sequencing Primer
(F):5'- GGGAAAGAACGGTATTTCTCAAAC -3'
(R):5'- GAGGCCTCCATTCAGCTTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation