Incidental Mutation 'R1343:Gpr65'
| ID |
156440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr65
|
| Ensembl Gene |
ENSMUSG00000021886 |
| Gene Name |
G-protein coupled receptor 65 |
| Synonyms |
TDAG8, Dig1, Gpcr25 |
| MMRRC Submission |
039408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98234894-98242903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98241888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 180
(K180N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075072
AA Change: K180N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074581
Gene: ENSMUSG00000021886
AA Change: K180N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
33 |
290 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219320
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice have thymocytes and splenocytes that are insensitive to pH-dependent cAMP production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle2 |
T |
C |
5: 110,385,832 (GRCm39) |
V361A |
probably damaging |
Het |
| Art1 |
A |
G |
7: 101,756,160 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,731,672 (GRCm39) |
Y215H |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,696,069 (GRCm39) |
E2666G |
unknown |
Het |
| Cps1 |
T |
A |
1: 67,248,768 (GRCm39) |
V1165E |
probably damaging |
Het |
| Gsto2 |
A |
T |
19: 47,873,146 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,653 (GRCm39) |
D494G |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,758,040 (GRCm39) |
R695G |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,927,272 (GRCm39) |
L327P |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,603 (GRCm39) |
T177A |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,481,709 (GRCm39) |
M208K |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,223 (GRCm39) |
H1239Q |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Prmt3 |
C |
T |
7: 49,467,856 (GRCm39) |
S354L |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,754,763 (GRCm39) |
H1176L |
probably damaging |
Het |
| Serpinb9h |
G |
A |
13: 33,588,468 (GRCm39) |
C351Y |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,195,596 (GRCm39) |
S1618G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,080,417 (GRCm39) |
S4784P |
probably damaging |
Het |
| Usp14 |
T |
C |
18: 10,016,623 (GRCm39) |
T73A |
probably benign |
Het |
| Vmn2r53 |
G |
A |
7: 12,318,701 (GRCm39) |
P458L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,238 (GRCm39) |
D2602G |
probably damaging |
Het |
|
| Other mutations in Gpr65 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Gpr65
|
APN |
12 |
98,241,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00717:Gpr65
|
APN |
12 |
98,242,314 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01643:Gpr65
|
APN |
12 |
98,242,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Gpr65
|
APN |
12 |
98,241,974 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02023:Gpr65
|
APN |
12 |
98,242,127 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02803:Gpr65
|
APN |
12 |
98,241,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Gpr65
|
UTSW |
12 |
98,241,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1771:Gpr65
|
UTSW |
12 |
98,242,259 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1812:Gpr65
|
UTSW |
12 |
98,242,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Gpr65
|
UTSW |
12 |
98,241,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2263:Gpr65
|
UTSW |
12 |
98,241,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Gpr65
|
UTSW |
12 |
98,241,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Gpr65
|
UTSW |
12 |
98,242,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8136:Gpr65
|
UTSW |
12 |
98,241,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Gpr65
|
UTSW |
12 |
98,241,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGCTATTTAGCAGTCGTCTACCC -3'
(R):5'- TCTAAAACGCAGCGGATGAGCAC -3'
Sequencing Primer
(F):5'- GCAGTCGTCTACCCTCTGAAG -3'
(R):5'- GCGGATGAGCACCATCAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation