Incidental Mutation 'R4846:Gprc5c'
| ID |
372183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprc5c
|
| Ensembl Gene |
ENSMUSG00000051043 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member C |
| Synonyms |
|
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114851152-114872617 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114864267 bp (GRCm38)
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| 1700014D04Rik |
T |
C |
13: 59,742,233 |
D591G |
probably benign |
Het |
| 9930012K11Rik |
T |
A |
14: 70,155,943 |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,935,180 |
A687V |
probably benign |
Het |
| Adam20 |
A |
G |
8: 40,795,011 |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,454,494 |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,426,301 |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,897,767 |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,363,454 |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,942,299 |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,784,081 |
D168G |
probably damaging |
Het |
| Btbd11 |
A |
G |
10: 85,629,266 |
T657A |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,392,301 |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,421,102 |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,484,690 |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,545,384 |
Q159* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,321,493 |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,616,809 |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,954,311 |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,536,893 |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,371,837 |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,829,962 |
|
probably benign |
Het |
| Hc |
A |
G |
2: 35,019,670 |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,299,522 |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,920,606 |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,821,148 |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,342,972 |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,479,113 |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,256,997 |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,929 |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,482,836 |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,808,536 |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,163,163 |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,175,579 |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 4,986,777 |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,350,786 |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,419,184 |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,779,930 |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,644,583 |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 88,806,578 |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 76,062,239 |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,967,828 |
S135P |
probably benign |
Het |
| St5 |
C |
A |
7: 109,556,836 |
E236* |
probably null |
Het |
| Stra6l |
G |
A |
4: 45,873,682 |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,834,408 |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,588,897 |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,376,883 |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,813,185 |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,541,065 |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,617,294 |
Q92R |
possibly damaging |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114,864,252 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01762:Gprc5c
|
APN |
11 |
114,864,024 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02039:Gprc5c
|
APN |
11 |
114,864,486 (GRCm38) |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114,866,711 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114,864,394 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114,863,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114,864,498 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4902:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5048:Gprc5c
|
UTSW |
11 |
114,870,351 (GRCm38) |
makesense |
probably null |
|
|
R5106:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5508:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5794:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114,863,624 (GRCm38) |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114,864,487 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114,864,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114,864,105 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114,868,617 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114,864,532 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8543:Gprc5c
|
UTSW |
11 |
114,864,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- TCAGGATGGTCTCATAGCCC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GGGTACATGTCCCCCTGGTAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation