Incidental Mutation 'IGL02368:Gpr68'
| ID |
290813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr68
|
| Ensembl Gene |
ENSMUSG00000047415 |
| Gene Name |
G protein-coupled receptor 68 |
| Synonyms |
OGR1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
100842941-100874457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100845026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 173
(F173L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053668]
[ENSMUST00000110065]
[ENSMUST00000110066]
[ENSMUST00000110070]
|
| AlphaFold |
Q8BFQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053668
AA Change: F173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057510
Gene: ENSMUSG00000047415
AA Change: F173L
| 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 |
probably damaging
Transcript: ENSMUST00000110065
AA Change: F173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105692
Gene: ENSMUSG00000047415
AA Change: F173L
| 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 damaging
Transcript: ENSMUST00000110066
AA Change: F173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105693
Gene: ENSMUSG00000047415
AA Change: F173L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135684
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gpr68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7217:Gpr68
|
UTSW |
12 |
100,845,058 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation