Incidental Mutation 'R5562:Gprc5c'
ID |
436672 |
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 |
043119-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R5562 (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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
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 |
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 |
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'- CTCCACAAACATGCTCTGGC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
|
Posted On |
2016-10-24 |