Incidental Mutation 'R8455:Adgra1'
ID |
654976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgra1
|
Ensembl Gene |
ENSMUSG00000025475 |
Gene Name |
adhesion G protein-coupled receptor A1 |
Synonyms |
D7Ertd680e, Gpr123, 2900059M17Rik |
MMRRC Submission |
067832-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R8455 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 139455567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 398
(C398*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
AlphaFold |
Q8C4G9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026548
AA Change: C398*
|
SMART Domains |
Protein: ENSMUSP00000026548 Gene: ENSMUSG00000025475 AA Change: C398*
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
Zfp605 |
A |
G |
5: 110,259,848 (GRCm39) |
|
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 |
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 |
|
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'- TCTCCGAACGTGAACTGTG -3'
Sequencing Primer
(F):5'- ACTCGATGCCAACGGGGATG -3'
(R):5'- GGATGTGGTAAGCATACTCCCTC -3'
|
Posted On |
2020-10-20 |