Incidental Mutation 'R7217:Gpr68'
ID |
561545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr68
|
Ensembl Gene |
ENSMUSG00000047415 |
Gene Name |
G protein-coupled receptor 68 |
Synonyms |
OGR1 |
MMRRC Submission |
045289-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
100842941-100874457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100845058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053668]
[ENSMUST00000110065]
[ENSMUST00000110066]
[ENSMUST00000110070]
|
AlphaFold |
Q8BFQ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053668
AA Change: V162A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057510 Gene: ENSMUSG00000047415 AA Change: V162A
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
38 |
286 |
2.3e-41 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110065
AA Change: V162A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105692 Gene: ENSMUSG00000047415 AA Change: V162A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
29 |
162 |
3e-6 |
PFAM |
Pfam:7tm_1
|
38 |
286 |
1.8e-48 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110066
AA Change: V162A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105693 Gene: ENSMUSG00000047415 AA Change: V162A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
29 |
162 |
3e-6 |
PFAM |
Pfam:7tm_1
|
38 |
286 |
1.8e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110070
|
SMART Domains |
Protein: ENSMUSP00000105697 Gene: ENSMUSG00000021185
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
2.8e-51 |
PFAM |
Pfam:DUF4392
|
298 |
563 |
2.5e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124957
|
SMART Domains |
Protein: ENSMUSP00000122512 Gene: ENSMUSG00000021185
Domain | Start | End | E-Value | Type |
Pfam:DUF4392
|
4 |
65 |
9.6e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.0720 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
91% (40/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017] PHENOTYPE: Mice homozygous for a null allele exhibit decreased osteoclastogenesis, abnormal pH-sensitive osteoclast survival, and background sensitive alterations in brown adipose tissue, monocytes, and macrophages. Mice homozygous for a different allele exhibit attenuated glucose-stimulated insulin secretion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
Het |
|
Other mutations in Gpr68 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02368:Gpr68
|
APN |
12 |
100,845,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R0581:Gpr68
|
UTSW |
12 |
100,844,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Gpr68
|
UTSW |
12 |
100,845,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Gpr68
|
UTSW |
12 |
100,844,662 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1875:Gpr68
|
UTSW |
12 |
100,845,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R4029:Gpr68
|
UTSW |
12 |
100,845,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4030:Gpr68
|
UTSW |
12 |
100,845,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Gpr68
|
UTSW |
12 |
100,865,650 (GRCm39) |
unclassified |
probably benign |
|
R5000:Gpr68
|
UTSW |
12 |
100,844,596 (GRCm39) |
missense |
probably benign |
0.04 |
R5770:Gpr68
|
UTSW |
12 |
100,845,080 (GRCm39) |
missense |
probably benign |
0.00 |
R6812:Gpr68
|
UTSW |
12 |
100,844,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Gpr68
|
UTSW |
12 |
100,844,623 (GRCm39) |
missense |
probably benign |
|
R7814:Gpr68
|
UTSW |
12 |
100,845,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R7869:Gpr68
|
UTSW |
12 |
100,845,497 (GRCm39) |
missense |
probably benign |
0.37 |
R7899:Gpr68
|
UTSW |
12 |
100,844,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8690:Gpr68
|
UTSW |
12 |
100,845,292 (GRCm39) |
missense |
probably benign |
0.25 |
X0018:Gpr68
|
UTSW |
12 |
100,845,128 (GRCm39) |
missense |
probably benign |
0.08 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGATGACCACGGTGCTGAG -3'
(R):5'- ACATTTACATCAGCGTGGGC -3'
Sequencing Primer
(F):5'- AGCCGCTGAATCTGGTCCTTG -3'
(R):5'- CGTGGGCTTCCTCTGCTG -3'
|
Posted On |
2019-06-26 |