Incidental Mutation 'R5976:Gprc5c'
| ID |
471787 |
| 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 |
044158-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5976 (G1)
|
| Quality Score |
159 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114755313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 330
(Q330L)
|
| 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: Q330L
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: Q330L
| 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: Q330L
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: Q330L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
| 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: Q330L
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: Q330L
| 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: 98.0%
- 20x: 94.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,494,855 (GRCm39) |
|
probably null |
Het |
| Arih2 |
A |
T |
9: 108,485,172 (GRCm39) |
*54R |
probably null |
Het |
| AW146154 |
T |
G |
7: 41,129,721 (GRCm39) |
K465T |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,386,540 (GRCm39) |
Y311C |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,955 (GRCm39) |
A1697T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,536 (GRCm39) |
Y809F |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,338,982 (GRCm39) |
P76L |
probably damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,115 (GRCm39) |
C667S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,452,636 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,410 (GRCm39) |
C64R |
probably damaging |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
C |
A |
3: 86,694,532 (GRCm39) |
R752L |
possibly damaging |
Het |
| Dzank1 |
C |
A |
2: 144,343,409 (GRCm39) |
G318W |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,819,923 (GRCm39) |
I236K |
probably damaging |
Het |
| Eif4e1b |
T |
C |
13: 54,932,635 (GRCm39) |
F75L |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,279 (GRCm39) |
Y266C |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,092,773 (GRCm39) |
S509P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,392 (GRCm39) |
M325T |
probably benign |
Het |
| Fah |
A |
G |
7: 84,243,949 (GRCm39) |
M270T |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,378,754 (GRCm39) |
L532P |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,320 (GRCm39) |
K66* |
probably null |
Het |
| Grin3a |
T |
A |
4: 49,792,602 (GRCm39) |
H377L |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,529 (GRCm39) |
E221G |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,379 (GRCm39) |
E29D |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,971,173 (GRCm39) |
S326T |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,014 (GRCm39) |
L632P |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,294,614 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
G |
15: 90,820,015 (GRCm39) |
D1583A |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,066,672 (GRCm39) |
V1070I |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,419,770 (GRCm39) |
S946R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,897 (GRCm39) |
S1843P |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,078 (GRCm39) |
Y517H |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,600,778 (GRCm39) |
N51I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,522 (GRCm39) |
A216D |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,761,268 (GRCm39) |
T2025A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,928 (GRCm39) |
V4162A |
possibly damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,554,602 (GRCm39) |
F599I |
probably damaging |
Het |
| Nsun2 |
T |
G |
13: 69,771,271 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
A |
7: 107,655,005 (GRCm39) |
M272K |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,958,997 (GRCm39) |
V160F |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,726,936 (GRCm39) |
W524R |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,593,533 (GRCm39) |
D182E |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,698,586 (GRCm39) |
Q415* |
probably null |
Het |
| Pfkfb2 |
T |
A |
1: 130,635,816 (GRCm39) |
K72* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,480,057 (GRCm39) |
E444G |
probably null |
Het |
| Plec |
T |
C |
15: 76,073,237 (GRCm39) |
Y669C |
probably damaging |
Het |
| Ptp4a3 |
T |
C |
15: 73,627,885 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,625 (GRCm38) |
E969G |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,789 (GRCm39) |
V262E |
probably benign |
Het |
| Ranbp3l |
T |
G |
15: 9,030,916 (GRCm39) |
F65C |
possibly damaging |
Het |
| Rbm19 |
T |
A |
5: 120,278,372 (GRCm39) |
S718R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,593,624 (GRCm39) |
R162L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,416,119 (GRCm39) |
L111P |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,216 (GRCm39) |
S13P |
probably damaging |
Het |
| Rogdi |
T |
A |
16: 4,831,175 (GRCm39) |
I31F |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,112 (GRCm39) |
D179E |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,529,807 (GRCm39) |
C409R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,945,613 (GRCm39) |
T38A |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,003,107 (GRCm39) |
Q1897* |
probably null |
Het |
| St7 |
C |
A |
6: 17,694,221 (GRCm39) |
A4E |
possibly damaging |
Het |
| Tbcel |
T |
A |
9: 42,350,499 (GRCm39) |
I263F |
possibly damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,312,534 (GRCm39) |
V103A |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,936,403 (GRCm39) |
P178S |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,580,426 (GRCm39) |
D558G |
|
Het |
| Zfp541 |
A |
G |
7: 15,810,344 (GRCm39) |
K127R |
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 |
|
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 |
|
|
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'- GGATGACCCCACGTTGGC -3'
(R):5'- GGATGAAAATCAGCAACAGCC -3'
Sequencing Primer
(F):5'- ACCCCACGTTGGCCATTG -3'
(R):5'- ACAGATTTGAGTTCCAGGCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation