Incidental Mutation 'IGL01014:Adgra1'
| ID |
53664 |
| 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 # |
IGL01014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139455576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 401
(M401I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
| AlphaFold |
Q8C4G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026548
AA Change: M401I
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: M401I
| 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
| Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
| Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
| Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
| Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
| Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
| Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
| Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
| Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
| Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
| Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
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 |
|
IGL01068:Adgra1
|
APN |
7 |
139,425,541 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01095:Adgra1
|
APN |
7 |
139,425,570 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2013-06-28 |
Incidental Mutation