Incidental Mutation 'R7191:Gprc5c'
ID |
559608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprc5c
|
Ensembl Gene |
ENSMUSG00000051043 |
Gene Name |
G protein-coupled receptor, family C, group 5, member C |
Synonyms |
3200002M13Rik, 1110028I06Rik |
MMRRC Submission |
045274-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R7191 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 114759443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 422
(T422M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021071]
[ENSMUST00000053361]
[ENSMUST00000122967]
[ENSMUST00000133245]
[ENSMUST00000136785]
[ENSMUST00000142262]
[ENSMUST00000152314]
[ENSMUST00000177952]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021071
AA Change: T422M
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021071 Gene: ENSMUSG00000051043 AA Change: T422M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053361
AA Change: T422M
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000061760 Gene: ENSMUSG00000051043 AA Change: T422M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
60 |
301 |
1.3e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122967
|
SMART Domains |
Protein: ENSMUSP00000114335 Gene: ENSMUSG00000051043
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133245
|
SMART Domains |
Protein: ENSMUSP00000121572 Gene: ENSMUSG00000051043
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136785
|
SMART Domains |
Protein: ENSMUSP00000116786 Gene: ENSMUSG00000051043
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
58 |
283 |
1.5e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142262
|
SMART Domains |
Protein: ENSMUSP00000121524 Gene: ENSMUSG00000051043
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
58 |
133 |
6.2e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152314
AA Change: T91M
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177952
AA Change: T422M
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136702 Gene: ENSMUSG00000051043 AA Change: T422M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (52/52) |
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 member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a reporter allele are behaviorally normal but exhibit reticulocytosis, increased mean corpuscular volume, increased percentage of basophils, decreased mean corpuscular hemogloblin concentration, and increased alkaline phophatase and lactic dehydrogenase levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510009E07Rik |
T |
A |
16: 21,472,314 (GRCm39) |
I129F |
probably benign |
Het |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,740,041 (GRCm39) |
T1948S |
unknown |
Het |
Arap1 |
T |
C |
7: 101,034,199 (GRCm39) |
C214R |
probably benign |
Het |
Ccdc82 |
C |
T |
9: 13,252,097 (GRCm39) |
Q130* |
probably null |
Het |
Cfh |
A |
C |
1: 140,040,305 (GRCm39) |
V597G |
probably benign |
Het |
Clp1 |
A |
T |
2: 84,554,490 (GRCm39) |
C226* |
probably null |
Het |
Cyp39a1 |
G |
A |
17: 44,041,910 (GRCm39) |
W372* |
probably null |
Het |
Dchs1 |
G |
A |
7: 105,414,646 (GRCm39) |
P799S |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,646,250 (GRCm39) |
N167I |
unknown |
Het |
Dock10 |
A |
G |
1: 80,518,048 (GRCm39) |
S1310P |
possibly damaging |
Het |
Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,762,771 (GRCm39) |
T758A |
probably benign |
Het |
Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
Gcg |
C |
G |
2: 62,307,183 (GRCm39) |
G126A |
probably damaging |
Het |
Get1 |
A |
G |
16: 95,953,145 (GRCm39) |
I79V |
possibly damaging |
Het |
Gne |
T |
C |
4: 44,040,266 (GRCm39) |
K633E |
probably benign |
Het |
Gpr4 |
T |
C |
7: 18,957,155 (GRCm39) |
V359A |
probably benign |
Het |
Gria2 |
C |
A |
3: 80,639,392 (GRCm39) |
V207L |
probably benign |
Het |
Hid1 |
T |
C |
11: 115,239,295 (GRCm39) |
*789W |
probably null |
Het |
Iigp1c |
A |
T |
18: 60,379,329 (GRCm39) |
D288V |
probably benign |
Het |
Jakmip3 |
G |
A |
7: 138,591,257 (GRCm39) |
|
probably null |
Het |
Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
Krt16 |
T |
C |
11: 100,137,484 (GRCm39) |
E407G |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,358,110 (GRCm39) |
D381G |
probably damaging |
Het |
Lrrc34 |
C |
T |
3: 30,679,027 (GRCm39) |
G357S |
possibly damaging |
Het |
Lypd11 |
C |
T |
7: 24,422,759 (GRCm39) |
V105I |
possibly damaging |
Het |
Mipol1 |
A |
G |
12: 57,503,852 (GRCm39) |
Q340R |
probably benign |
Het |
Mpzl3 |
T |
G |
9: 44,966,542 (GRCm39) |
M1R |
probably null |
Het |
Nrcam |
A |
G |
12: 44,619,027 (GRCm39) |
N852S |
probably benign |
Het |
Nudcd2 |
C |
T |
11: 40,627,430 (GRCm39) |
Q117* |
probably null |
Het |
Nup35 |
A |
T |
2: 80,488,723 (GRCm39) |
E320V |
probably damaging |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or5p56 |
G |
A |
7: 107,589,853 (GRCm39) |
V94M |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,628,943 (GRCm39) |
H668R |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,028,782 (GRCm39) |
D333V |
probably benign |
Het |
Rdh16 |
A |
G |
10: 127,649,287 (GRCm39) |
K248E |
probably benign |
Het |
Samd4b |
C |
A |
7: 28,113,686 (GRCm39) |
G93V |
probably benign |
Het |
Scgn |
A |
G |
13: 24,165,476 (GRCm39) |
I78T |
probably benign |
Het |
Slfn14 |
T |
C |
11: 83,167,575 (GRCm39) |
I647V |
probably benign |
Het |
Smyd5 |
T |
C |
6: 85,417,093 (GRCm39) |
V157A |
probably benign |
Het |
Syde2 |
T |
C |
3: 145,708,113 (GRCm39) |
M951T |
probably benign |
Het |
Tas2r105 |
T |
C |
6: 131,663,945 (GRCm39) |
N161S |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,443,316 (GRCm39) |
F581L |
probably damaging |
Het |
Traip |
A |
G |
9: 107,847,216 (GRCm39) |
N352D |
probably benign |
Het |
Trim29 |
A |
G |
9: 43,222,906 (GRCm39) |
Y245C |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,771,201 (GRCm39) |
I443V |
probably benign |
Het |
Usp36 |
C |
T |
11: 118,159,660 (GRCm39) |
E595K |
probably benign |
Het |
Vmn2r51 |
T |
A |
7: 9,834,480 (GRCm39) |
Y186F |
probably null |
Het |
Vmn2r97 |
A |
G |
17: 19,150,548 (GRCm39) |
Y465C |
probably damaging |
Het |
Zfp277 |
A |
T |
12: 40,379,561 (GRCm39) |
H324Q |
probably damaging |
Het |
Zfp987 |
A |
G |
4: 146,058,473 (GRCm39) |
D17G |
probably damaging |
Het |
|
Other mutations in Gprc5c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01599:Gprc5c
|
APN |
11 |
114,755,078 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01762:Gprc5c
|
APN |
11 |
114,754,850 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02039:Gprc5c
|
APN |
11 |
114,755,312 (GRCm39) |
nonsense |
probably null |
|
R0800:Gprc5c
|
UTSW |
11 |
114,757,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R1618:Gprc5c
|
UTSW |
11 |
114,755,220 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4198:Gprc5c
|
UTSW |
11 |
114,754,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Gprc5c
|
UTSW |
11 |
114,755,324 (GRCm39) |
missense |
probably damaging |
0.97 |
R4846:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4902:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4904:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5016:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5048:Gprc5c
|
UTSW |
11 |
114,761,177 (GRCm39) |
makesense |
probably null |
|
R5106:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5109:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5173:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5266:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5267:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5475:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5508:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5557:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5562:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5563:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5598:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5599:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5729:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5756:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5792:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5793:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5794:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5817:Gprc5c
|
UTSW |
11 |
114,754,450 (GRCm39) |
nonsense |
probably null |
|
R5976:Gprc5c
|
UTSW |
11 |
114,755,313 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6151:Gprc5c
|
UTSW |
11 |
114,754,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6617:Gprc5c
|
UTSW |
11 |
114,754,931 (GRCm39) |
missense |
probably benign |
0.05 |
R7108:Gprc5c
|
UTSW |
11 |
114,755,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R7796:Gprc5c
|
UTSW |
11 |
114,755,358 (GRCm39) |
missense |
probably damaging |
0.97 |
R8543:Gprc5c
|
UTSW |
11 |
114,755,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTGTGCATTTGCCCTGGC -3'
(R):5'- AACATCAGCAGATCAGGGGC -3'
Sequencing Primer
(F):5'- ATTTGCCCTGGCGGAAC -3'
(R):5'- TCTGACCCTGAGGCATAAGC -3'
|
Posted On |
2019-06-26 |