Incidental Mutation 'R0581:Gpr68'
| ID |
56437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr68
|
| Ensembl Gene |
ENSMUSG00000047415 |
| Gene Name |
G protein-coupled receptor 68 |
| Synonyms |
OGR1 |
| MMRRC Submission |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100842941-100874457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 100844815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 243
(P243R)
|
| 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: P243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057510
Gene: ENSMUSG00000047415
AA Change: P243R
| 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: P243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105692
Gene: ENSMUSG00000047415
AA Change: P243R
| 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: P243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105693
Gene: ENSMUSG00000047415
AA Change: P243R
| 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
|
| Meta Mutation Damage Score |
0.9185 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
| Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTAACAATTCAGGTTCCTCGCCC -3'
(R):5'- CGTAGCATCAACTACTACCGCTTCC -3'
Sequencing Primer
(F):5'- CTTGTCCTAGAGCAGGTAAGG -3'
(R):5'- TACCGCTTCCTGGTGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation