Incidental Mutation 'IGL01095:Adgra1'
| ID |
51511 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgra1
|
| Ensembl Gene |
ENSMUSG00000025475 |
| Gene Name |
adhesion G protein-coupled receptor A1 |
| Synonyms |
D7Ertd680e, Gpr123, 2900059M17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL01095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139425570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 28
(T28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
| AlphaFold |
Q8C4G9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026548
AA Change: T28A
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: T28A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_2
|
19 |
307 |
1.4e-16 |
PFAM |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137584
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Aldh8a1 |
A |
G |
10: 21,265,180 (GRCm39) |
E269G |
probably benign |
Het |
| Alkbh7 |
A |
G |
17: 57,304,470 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,571 (GRCm39) |
T129A |
probably benign |
Het |
| Ap1s1 |
A |
G |
5: 137,070,663 (GRCm39) |
I117T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,415,195 (GRCm39) |
P119S |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,110,142 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpa1 |
A |
T |
6: 30,642,968 (GRCm39) |
I299F |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,917,865 (GRCm39) |
V245A |
probably damaging |
Het |
| Ddx39b |
T |
C |
17: 35,465,937 (GRCm39) |
S71P |
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,138,325 (GRCm39) |
Y708C |
probably damaging |
Het |
| Dnah3 |
C |
A |
7: 119,550,820 (GRCm39) |
L3166F |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,816,213 (GRCm39) |
E114G |
probably benign |
Het |
| Fap |
G |
A |
2: 62,354,545 (GRCm39) |
T448I |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,170,841 (GRCm39) |
Y158N |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,520,155 (GRCm39) |
V437A |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,490,629 (GRCm39) |
D88V |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,719,605 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,546 (GRCm39) |
Q302L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,322,776 (GRCm39) |
Y1857* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,905 (GRCm39) |
T406A |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,721,120 (GRCm39) |
S346R |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,952,378 (GRCm39) |
K816M |
probably damaging |
Het |
| Mysm1 |
C |
T |
4: 94,856,106 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
C |
A |
5: 137,736,346 (GRCm39) |
R47L |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,910,954 (GRCm39) |
Y209H |
probably damaging |
Het |
| Or2v2 |
T |
G |
11: 49,003,680 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,966 (GRCm39) |
R139G |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,498 (GRCm39) |
D167G |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,341,811 (GRCm39) |
I78V |
probably benign |
Het |
| Or8d6 |
T |
C |
9: 39,853,976 (GRCm39) |
V140A |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,363,241 (GRCm39) |
|
probably null |
Het |
| Psd3 |
G |
A |
8: 68,361,165 (GRCm39) |
T99M |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,477 (GRCm39) |
E390G |
probably damaging |
Het |
| Rabgap1l |
A |
C |
1: 160,566,539 (GRCm39) |
C58W |
probably benign |
Het |
| Rasd1 |
A |
G |
11: 59,855,117 (GRCm39) |
I121T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,051 (GRCm39) |
N1284D |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,285,891 (GRCm39) |
V525A |
possibly damaging |
Het |
|
| Other mutations in Adgra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Adgra1
|
APN |
7 |
139,455,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01014:Adgra1
|
APN |
7 |
139,455,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01014:Adgra1
|
APN |
7 |
139,455,576 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01068:Adgra1
|
APN |
7 |
139,425,541 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02717:Adgra1
|
APN |
7 |
139,456,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
adaga
|
UTSW |
7 |
139,455,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Adgra1
|
UTSW |
7 |
139,432,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0630:Adgra1
|
UTSW |
7 |
139,432,500 (GRCm39) |
nonsense |
probably null |
|
|
R0653:Adgra1
|
UTSW |
7 |
139,456,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1388:Adgra1
|
UTSW |
7 |
139,453,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1462:Adgra1
|
UTSW |
7 |
139,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Adgra1
|
UTSW |
7 |
139,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Adgra1
|
UTSW |
7 |
139,425,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1770:Adgra1
|
UTSW |
7 |
139,453,947 (GRCm39) |
nonsense |
probably null |
|
|
R2083:Adgra1
|
UTSW |
7 |
139,455,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2967:Adgra1
|
UTSW |
7 |
139,455,601 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3410:Adgra1
|
UTSW |
7 |
139,427,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3411:Adgra1
|
UTSW |
7 |
139,427,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3687:Adgra1
|
UTSW |
7 |
139,432,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Adgra1
|
UTSW |
7 |
139,425,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3912:Adgra1
|
UTSW |
7 |
139,425,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4452:Adgra1
|
UTSW |
7 |
139,432,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4466:Adgra1
|
UTSW |
7 |
139,420,752 (GRCm39) |
intron |
probably benign |
|
|
R4469:Adgra1
|
UTSW |
7 |
139,455,977 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4675:Adgra1
|
UTSW |
7 |
139,456,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Adgra1
|
UTSW |
7 |
139,455,505 (GRCm39) |
missense |
probably benign |
|
|
R5220:Adgra1
|
UTSW |
7 |
139,455,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5846:Adgra1
|
UTSW |
7 |
139,455,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Adgra1
|
UTSW |
7 |
139,425,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Adgra1
|
UTSW |
7 |
139,455,343 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7242:Adgra1
|
UTSW |
7 |
139,427,573 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7343:Adgra1
|
UTSW |
7 |
139,456,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Adgra1
|
UTSW |
7 |
139,427,628 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8190:Adgra1
|
UTSW |
7 |
139,456,034 (GRCm39) |
missense |
probably benign |
|
|
R8355:Adgra1
|
UTSW |
7 |
139,455,567 (GRCm39) |
nonsense |
probably null |
|
|
R8455:Adgra1
|
UTSW |
7 |
139,455,567 (GRCm39) |
nonsense |
probably null |
|
|
R8905:Adgra1
|
UTSW |
7 |
139,455,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Adgra1
|
UTSW |
7 |
139,432,566 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9056:Adgra1
|
UTSW |
7 |
139,432,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Adgra1
|
UTSW |
7 |
139,455,716 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9438:Adgra1
|
UTSW |
7 |
139,432,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
V1662:Adgra1
|
UTSW |
7 |
139,432,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation