Incidental Mutation 'IGL00484:Adgra1'
| ID |
11086 |
| 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 # |
IGL00484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139455860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 496
(Q496R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
| AlphaFold |
Q8C4G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026548
AA Change: Q496R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: Q496R
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
| Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
| Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
| Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
| Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
| Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
| Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,169 (GRCm39) |
|
probably null |
Het |
| H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,335,314 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,487,482 (GRCm39) |
|
probably benign |
Het |
| Pik3r1 |
A |
C |
13: 101,838,255 (GRCm39) |
I267S |
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
| Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
| Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
| Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
| Ttbk2 |
C |
T |
2: 120,604,367 (GRCm39) |
W210* |
probably null |
Het |
| Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
| Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
| Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
| Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
Het |
|
| Other mutations in Adgra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation