Incidental Mutation 'R5756:Gprc5c'
ID 445058
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 043359-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R5756 (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] [ENSMUST00000177952] [ENSMUST00000152314]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 133 6.2e-14 PFAM
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

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152314
Meta Mutation Damage Score 0.1280 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,010,919 (GRCm39) noncoding transcript Het
Aqp6 A T 15: 99,500,623 (GRCm39) I183F probably damaging Het
Asap1 A T 15: 64,039,556 (GRCm39) M218K probably damaging Het
Astn2 G A 4: 66,037,425 (GRCm39) probably benign Het
Bmp5 A G 9: 75,683,649 (GRCm39) D92G probably benign Het
Cables1 A G 18: 12,074,410 (GRCm39) D511G probably damaging Het
Cacna1e A G 1: 154,347,383 (GRCm39) M928T probably benign Het
Calcoco1 T C 15: 102,628,086 (GRCm39) N16S probably benign Het
Catspere2 A T 1: 177,943,793 (GRCm39) Q710L unknown Het
Coro7 C T 16: 4,450,148 (GRCm39) R567Q probably damaging Het
Dgki C T 6: 36,913,993 (GRCm39) probably benign Het
Dusp11 T C 6: 85,929,339 (GRCm39) I147V probably damaging Het
Eif2ak4 T C 2: 118,293,221 (GRCm39) I1259T possibly damaging Het
Elapor2 A C 5: 9,512,995 (GRCm39) K996N probably damaging Het
Etfdh T C 3: 79,521,063 (GRCm39) I219V probably benign Het
Ffar4 C T 19: 38,102,406 (GRCm39) T347I probably damaging Het
Fgf3 G A 7: 144,396,688 (GRCm39) S234N probably benign Het
Fnta A T 8: 26,499,735 (GRCm39) I155N possibly damaging Het
Gcm2 G A 13: 41,263,372 (GRCm39) T20M probably damaging Het
Ggt5 A T 10: 75,440,607 (GRCm39) M243L probably benign Het
Ggta1 T C 2: 35,292,395 (GRCm39) Y304C probably damaging Het
Gm5454 A G 13: 103,492,855 (GRCm39) noncoding transcript Het
Hrc T C 7: 44,986,130 (GRCm39) V427A possibly damaging Het
Ibtk C G 9: 85,613,307 (GRCm39) V219L possibly damaging Het
Ift140 A G 17: 25,247,787 (GRCm39) H215R possibly damaging Het
Itln1 A G 1: 171,344,485 (GRCm39) probably benign Het
Kif13b T C 14: 64,973,754 (GRCm39) I368T probably damaging Het
Lars2 T C 9: 123,267,264 (GRCm39) Y529H probably damaging Het
Lrrc55 G A 2: 85,026,727 (GRCm39) T99I probably benign Het
Mycbp2 A T 14: 103,371,410 (GRCm39) I4156N probably damaging Het
Myo1c T G 11: 75,549,240 (GRCm39) M137R probably benign Het
Or51i1 T C 7: 103,670,889 (GRCm39) D212G probably damaging Het
Or6c8b A G 10: 128,882,095 (GRCm39) V279A probably benign Het
Or8b54 T A 9: 38,686,554 (GRCm39) M1K probably null Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Phyhip T G 14: 70,704,532 (GRCm39) C250W probably damaging Het
Pisd G A 5: 32,895,842 (GRCm39) T412I probably damaging Het
Polr3c T C 3: 96,621,450 (GRCm39) N444S probably damaging Het
Sart1 T C 19: 5,430,497 (GRCm39) E750G probably damaging Het
Sh3rf3 T C 10: 58,940,204 (GRCm39) V675A probably damaging Het
Slc4a11 G T 2: 130,529,783 (GRCm39) D307E probably benign Het
Slc6a16 A T 7: 44,910,274 (GRCm39) I315F possibly damaging Het
Smarca5 A C 8: 81,437,233 (GRCm39) S708A probably benign Het
Sv2c T C 13: 96,122,475 (GRCm39) I434V probably benign Het
Tars3 A G 7: 65,325,724 (GRCm39) K433E probably benign Het
Tbx15 A T 3: 99,220,402 (GRCm39) I165F probably damaging Het
Tep1 C T 14: 51,074,836 (GRCm39) probably null Het
Tex15 G A 8: 34,065,861 (GRCm39) G1764S probably benign Het
Tnfrsf19 A G 14: 61,262,224 (GRCm39) L13P probably benign Het
Tnnt3 G A 7: 142,056,495 (GRCm39) probably null Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp24 T A 4: 106,219,680 (GRCm39) I597K probably damaging Het
Usp40 C T 1: 87,879,413 (GRCm39) R960Q possibly damaging Het
Vps53 A T 11: 75,983,156 (GRCm39) probably benign Het
Xylt1 C T 7: 117,249,927 (GRCm39) T699I probably damaging Het
Zfp81 A C 17: 33,553,307 (GRCm39) Y502* probably null Het
Zfyve26 T A 12: 79,311,131 (GRCm39) H145L probably damaging Het
Other mutations in Gprc5c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTTCTCCACAAACATGCTCTGG -3'

Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
Posted On 2016-11-21