Incidental Mutation 'R6617:Gprc5c'
| ID |
524165 |
| 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 |
044740-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R6617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114754931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 203
(I203V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136702
(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 |
probably benign
Transcript: ENSMUST00000021071
AA Change: I203V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: I203V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053361
AA Change: I203V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: I203V
| 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
AA Change: I203V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: I203V
| 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 |
probably benign
Transcript: ENSMUST00000177952
AA Change: I203V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: I203V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
| Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,254,156 (GRCm39) |
N540S |
probably damaging |
Het |
| Dll4 |
A |
G |
2: 119,158,412 (GRCm39) |
T134A |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
T |
14: 72,669,215 (GRCm39) |
L2649H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
| Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
| Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,781 (GRCm39) |
E247G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,306,746 (GRCm39) |
S276P |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
| Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
probably null |
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 |
|
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'- TAACCCGGAAGAACCATGGG -3'
(R):5'- AGGTTTGGTCACCTGTGAGAC -3'
Sequencing Primer
(F):5'- AAGAACCATGGGCCCCGAG -3'
(R):5'- CGTAGGTGTACATGACAATCCATAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation