Incidental Mutation 'I2288:Adgra1'
ID |
7902 |
Institutional Source |
Beutler Lab
|
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 # |
I2288 (G3)
of strain
633
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139432495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 111
(I111T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
AlphaFold |
Q8C4G9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026548
AA Change: I111T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026548 Gene: ENSMUSG00000025475 AA Change: I111T
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 |
|
Meta Mutation Damage Score |
0.7014 |
Coding Region Coverage |
|
Validation Efficiency |
71% (138/195) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably 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 |
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 |
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 |
2012-11-13 |