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 |
|
| MMRRC Submission |
043069-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R5508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 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 |
|---|
| 1700011I03Rik |
G |
A |
18: 57,538,084 |
|
probably null |
Het |
| Ank3 |
G |
A |
10: 70,002,565 |
R1566K |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,298,580 |
D344G |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,386,783 |
F300I |
probably damaging |
Het |
| BC016579 |
T |
A |
16: 45,633,006 |
T149S |
possibly damaging |
Het |
| Bcl6b |
A |
T |
11: 70,226,093 |
H453Q |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,173,042 |
|
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,752,983 |
C396F |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,146 |
V253A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,309,794 |
*241W |
probably null |
Het |
| Flvcr1 |
C |
T |
1: 191,025,459 |
G212D |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,288,187 |
L36* |
probably null |
Het |
| Gtf3c2 |
G |
T |
5: 31,174,461 |
C4* |
probably null |
Het |
| Kit |
G |
T |
5: 75,649,548 |
C786F |
probably damaging |
Het |
| Klf14 |
T |
C |
6: 30,958,042 |
H219R |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,369,903 |
V122A |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,294,131 |
A1557V |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,464,516 |
K1162N |
probably benign |
Het |
| Mtmr11 |
G |
A |
3: 96,163,767 |
R147Q |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 63,066,665 |
|
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,301,126 |
L48F |
probably damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,521,739 |
D310N |
probably damaging |
Het |
| Phlpp1 |
G |
T |
1: 106,364,390 |
R993L |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,216,488 |
P21S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,686,231 |
V620L |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,480,005 |
D2182E |
probably damaging |
Het |
| Sass6 |
G |
A |
3: 116,620,103 |
R485K |
probably benign |
Het |
| Scoc |
A |
T |
8: 83,435,942 |
S68T |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,794,664 |
L114I |
probably damaging |
Het |
| Ss18l1 |
C |
G |
2: 180,057,653 |
Q215E |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,960,279 |
N368S |
probably benign |
Het |
| Trim80 |
T |
A |
11: 115,445,078 |
S275R |
probably benign |
Het |
| Tubb5 |
T |
C |
17: 35,835,070 |
N416S |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,327,200 |
M395K |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 42,266,818 |
M285K |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,294,645 |
I1008V |
probably benign |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114864252 |
missense |
probably benign |
0.01 |
|
IGL01762:Gprc5c
|
APN |
11 |
114864024 |
missense |
probably benign |
0.28 |
|
IGL02039:Gprc5c
|
APN |
11 |
114864486 |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114866711 |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114864394 |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114863860 |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114864498 |
missense |
probably damaging |
0.97 |
|
R4846:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R4902:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5048:Gprc5c
|
UTSW |
11 |
114870351 |
makesense |
probably null |
|
|
R5106:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5794:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114863624 |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114864487 |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114864025 |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114864105 |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114864282 |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114868617 |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114864532 |
missense |
probably damaging |
0.97 |
|
R8543:Gprc5c
|
UTSW |
11 |
114864268 |
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 |
