Incidental Mutation 'R5557:Gprc5c'
| ID |
435470 |
| 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 |
043114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5557 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,767,501 (GRCm39) |
F363I |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,764,949 (GRCm39) |
N646K |
probably benign |
Het |
| Abi2 |
C |
A |
1: 60,478,071 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,863,651 (GRCm39) |
S35P |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,100,089 (GRCm39) |
|
probably null |
Het |
| Bag5 |
T |
C |
12: 111,676,524 (GRCm39) |
N433S |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,574,772 (GRCm39) |
V218D |
probably benign |
Het |
| Catsperg1 |
T |
G |
7: 28,895,296 (GRCm39) |
N332T |
possibly damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,728,976 (GRCm39) |
T179P |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,692,968 (GRCm39) |
|
probably benign |
Het |
| Crlf1 |
A |
G |
8: 70,951,317 (GRCm39) |
I65M |
probably benign |
Het |
| Dennd4a |
T |
G |
9: 64,811,509 (GRCm39) |
D1376E |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,933,106 (GRCm39) |
P504L |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,560,819 (GRCm39) |
T886A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,321,667 (GRCm39) |
V4394E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,393,186 (GRCm39) |
M112T |
possibly damaging |
Het |
| Eps8 |
T |
C |
6: 137,456,094 (GRCm39) |
M796V |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,771,791 (GRCm39) |
Y7* |
probably null |
Het |
| Farsb |
C |
T |
1: 78,445,888 (GRCm39) |
|
probably null |
Het |
| Fasn |
A |
G |
11: 120,703,252 (GRCm39) |
M1591T |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,248,731 (GRCm39) |
A384T |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,489,564 (GRCm39) |
D349G |
probably damaging |
Het |
| Glis3 |
G |
T |
19: 28,241,409 (GRCm39) |
H842N |
probably benign |
Het |
| Gm17067 |
G |
A |
7: 42,357,945 (GRCm39) |
P186S |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,159,888 (GRCm39) |
L362* |
probably null |
Het |
| Ing3 |
A |
G |
6: 21,968,908 (GRCm39) |
H130R |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,678,888 (GRCm39) |
Q306L |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,776,690 (GRCm39) |
K66E |
probably benign |
Het |
| Kif21b |
C |
A |
1: 136,097,797 (GRCm39) |
N1352K |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,003 (GRCm39) |
N84Y |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,589,884 (GRCm39) |
Y55* |
probably null |
Het |
| Mmachc |
T |
C |
4: 116,563,097 (GRCm39) |
H86R |
probably damaging |
Het |
| Ncbp1 |
T |
C |
4: 46,165,259 (GRCm39) |
V524A |
probably benign |
Het |
| Or10ag54 |
A |
T |
2: 87,099,736 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,358 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c102 |
G |
A |
2: 88,422,897 (GRCm39) |
V250M |
probably damaging |
Het |
| Or5af1 |
G |
A |
11: 58,722,813 (GRCm39) |
V278I |
probably benign |
Het |
| Or5b101 |
C |
A |
19: 13,005,004 (GRCm39) |
A230S |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,466 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pigu |
G |
T |
2: 155,120,549 (GRCm39) |
Y404* |
probably null |
Het |
| Plaa |
A |
T |
4: 94,472,244 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
T |
8: 118,313,296 (GRCm39) |
I487F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,867,580 (GRCm39) |
I162T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,001,000 (GRCm39) |
V1030D |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,993,336 (GRCm39) |
S505R |
probably benign |
Het |
| Samd7 |
A |
T |
3: 30,810,769 (GRCm39) |
Q262L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,377,447 (GRCm39) |
N412Y |
probably damaging |
Het |
| Sytl1 |
C |
A |
4: 132,986,667 (GRCm39) |
R91M |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,555,244 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,943,100 (GRCm39) |
M580T |
probably benign |
Het |
| Themis |
A |
T |
10: 28,657,882 (GRCm39) |
Q150L |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,086,466 (GRCm39) |
S41P |
possibly damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,144 (GRCm39) |
V695A |
probably damaging |
Het |
| Trim23 |
A |
T |
13: 104,324,017 (GRCm39) |
T159S |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,944 (GRCm39) |
Y166C |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,675 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,734 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
G |
7: 108,624,925 (GRCm39) |
S180A |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,851,231 (GRCm39) |
V1243A |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,942 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,944,345 (GRCm39) |
V1021E |
probably damaging |
Het |
| Zim1 |
T |
A |
7: 6,680,710 (GRCm39) |
I318F |
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 |
|
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'- CTTCAGGATGGTCTCATAGCCC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GGGTACATGTCCCCCTGGTAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation