Incidental Mutation 'R2967:Adgra1'
ID |
263288 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgra1
|
Ensembl Gene |
ENSMUSG00000025475 |
Gene Name |
adhesion G protein-coupled receptor A1 |
Synonyms |
D7Ertd680e, Gpr123, 2900059M17Rik |
MMRRC Submission |
040523-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R2967 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 139455601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 410
(E410K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
AlphaFold |
Q8C4G9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026548
AA Change: E410K
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000026548 Gene: ENSMUSG00000025475 AA Change: E410K
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
Eif2s3y |
A |
T |
Y: 1,020,030 (GRCm39) |
M353L |
probably benign |
Het |
Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
Gan |
A |
G |
8: 117,910,265 (GRCm39) |
K65E |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
Hs2st1 |
T |
A |
3: 144,170,899 (GRCm39) |
N91I |
probably damaging |
Het |
Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,018,532 (GRCm39) |
L84S |
possibly damaging |
Het |
Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
Zfp653 |
A |
G |
9: 21,977,026 (GRCm39) |
L147P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTACACTCGATGCCAACG -3'
(R):5'- CAATGTGTGCATCCCCATTG -3'
Sequencing Primer
(F):5'- ACTCGATGCCAACGGGGATG -3'
(R):5'- TCTCCGAACGTGAACTGTG -3'
|
Posted On |
2015-02-05 |