Incidental Mutation 'R5508:Gprc5c'
ID |
431043 |
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 |
043069-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R5508 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114755093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 257
(V257L)
|
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: V257L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021071 Gene: ENSMUSG00000051043 AA Change: V257L
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: V257L
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061760 Gene: ENSMUSG00000051043 AA Change: V257L
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 |
possibly damaging
Transcript: ENSMUST00000136785
AA Change: V257L
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116786 Gene: ENSMUSG00000051043 AA Change: V257L
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 |
probably benign
Transcript: ENSMUST00000152314
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177952
AA Change: V257L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136702 Gene: ENSMUSG00000051043 AA Change: V257L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
Meta Mutation Damage Score |
0.1280 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.7%
- 20x: 92.5%
|
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 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,431,633 (GRCm39) |
D344G |
probably damaging |
Het |
Asphd2 |
A |
T |
5: 112,534,649 (GRCm39) |
F300I |
probably damaging |
Het |
BC016579 |
T |
A |
16: 45,453,369 (GRCm39) |
T149S |
possibly damaging |
Het |
Bcl6b |
A |
T |
11: 70,116,919 (GRCm39) |
H453Q |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Clec4b2 |
A |
G |
6: 123,150,001 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
G |
T |
1: 17,823,207 (GRCm39) |
C396F |
probably damaging |
Het |
Dnase1l3 |
A |
G |
14: 7,968,146 (GRCm38) |
V253A |
probably damaging |
Het |
Efhd1 |
A |
G |
1: 87,237,516 (GRCm39) |
*241W |
probably null |
Het |
Flvcr1 |
C |
T |
1: 190,757,656 (GRCm39) |
G212D |
probably damaging |
Het |
Golga2 |
T |
A |
2: 32,178,199 (GRCm39) |
L36* |
probably null |
Het |
Gtf3c2 |
G |
T |
5: 31,331,805 (GRCm39) |
C4* |
probably null |
Het |
Kit |
G |
T |
5: 75,810,208 (GRCm39) |
C786F |
probably damaging |
Het |
Klf14 |
T |
C |
6: 30,934,977 (GRCm39) |
H219R |
probably damaging |
Het |
Large2 |
A |
G |
2: 92,200,248 (GRCm39) |
V122A |
possibly damaging |
Het |
Lct |
G |
A |
1: 128,221,868 (GRCm39) |
A1557V |
probably damaging |
Het |
Lrp6 |
T |
G |
6: 134,441,479 (GRCm39) |
K1162N |
probably benign |
Het |
Mtmr11 |
G |
A |
3: 96,071,084 (GRCm39) |
R147Q |
probably damaging |
Het |
Pbld2 |
T |
A |
10: 62,902,444 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
A |
T |
18: 37,434,179 (GRCm39) |
L48F |
probably damaging |
Het |
Pdcd2 |
C |
T |
17: 15,742,001 (GRCm39) |
D310N |
probably damaging |
Het |
Phlpp1 |
G |
T |
1: 106,292,120 (GRCm39) |
R993L |
probably benign |
Het |
Prr36 |
G |
A |
8: 4,266,488 (GRCm39) |
P21S |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,522,092 (GRCm39) |
V620L |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,315,827 (GRCm39) |
D2182E |
probably damaging |
Het |
Sass6 |
G |
A |
3: 116,413,752 (GRCm39) |
R485K |
probably benign |
Het |
Scoc |
A |
T |
8: 84,162,571 (GRCm39) |
S68T |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,844,678 (GRCm39) |
L114I |
probably damaging |
Het |
Ss18l1 |
C |
G |
2: 179,699,446 (GRCm39) |
Q215E |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,796,143 (GRCm39) |
N368S |
probably benign |
Het |
Trim80 |
T |
A |
11: 115,335,904 (GRCm39) |
S275R |
probably benign |
Het |
Tubb5 |
T |
C |
17: 36,145,962 (GRCm39) |
N416S |
probably benign |
Het |
Ugt2a3 |
A |
T |
5: 87,475,059 (GRCm39) |
M395K |
probably damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,242 (GRCm39) |
M285K |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,244,645 (GRCm39) |
I1008V |
probably benign |
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 |
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 |
R7191:Gprc5c
|
UTSW |
11 |
114,759,443 (GRCm39) |
missense |
possibly damaging |
0.56 |
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'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- TCCTTCAGGATGGTCTCATAGCC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GATGGTCTCATAGCCCACCC -3'
|
Posted On |
2016-10-05 |