Incidental Mutation 'IGL00478:Gpr137c'
ID11096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr137c
Ensembl Gene ENSMUSG00000049092
Gene NameG protein-coupled receptor 137C
SynonymsLOC380893, 6330416L11Rik, TM7SF1L2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00478
Quality Score
Status
Chromosome14
Chromosomal Location45219717-45282725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45278745 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 312 (V312A)
Ref Sequence ENSEMBL: ENSMUSP00000120015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022378] [ENSMUST00000146150] [ENSMUST00000151749]
Predicted Effect probably benign
Transcript: ENSMUST00000022378
SMART Domains Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:ERO1 60 453 3.7e-128 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146150
AA Change: V312A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120015
Gene: ENSMUSG00000049092
AA Change: V312A

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 23 39 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Blast:G_alpha 121 286 9e-17 BLAST
transmembrane domain 294 316 N/A INTRINSIC
low complexity region 376 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227166
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,047,972 T578A possibly damaging Het
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Akap9 G A 5: 4,046,639 V2505M probably damaging Het
Alpk2 A T 18: 65,307,226 C365* probably null Het
C920021L13Rik A T 3: 95,887,485 probably benign Het
Chd3 A T 11: 69,357,062 V905E probably damaging Het
Cntrl T C 2: 35,160,601 V1529A probably damaging Het
Coro2a T C 4: 46,540,455 D488G probably benign Het
Dpf1 G T 7: 29,316,556 probably benign Het
Fga T A 3: 83,028,644 D59E probably benign Het
Ggh T A 4: 20,057,965 H175Q probably benign Het
Glyat T C 19: 12,648,133 probably benign Het
Myt1 T C 2: 181,801,115 S466P probably damaging Het
Nlrp5 A T 7: 23,441,788 D1078V probably damaging Het
Rad17 T C 13: 100,633,274 D259G probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Uspl1 A T 5: 149,215,214 T1075S possibly damaging Het
Vash1 T A 12: 86,680,268 I94N possibly damaging Het
Zfp770 T C 2: 114,197,465 E41G probably damaging Het
Other mutations in Gpr137c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Gpr137c APN 14 45279955 missense probably damaging 0.98
IGL02203:Gpr137c APN 14 45277487 missense possibly damaging 0.86
IGL02960:Gpr137c APN 14 45246433 missense possibly damaging 0.92
R0731:Gpr137c UTSW 14 45246349 missense probably damaging 1.00
R1162:Gpr137c UTSW 14 45244158 missense possibly damaging 0.89
R1245:Gpr137c UTSW 14 45279065 utr 3 prime probably benign
R1983:Gpr137c UTSW 14 45279971 missense probably benign 0.01
R2060:Gpr137c UTSW 14 45244159 missense probably damaging 1.00
R2428:Gpr137c UTSW 14 45278963 missense probably damaging 1.00
R3034:Gpr137c UTSW 14 45220276 missense probably damaging 0.99
R3911:Gpr137c UTSW 14 45278935 missense probably benign 0.31
R4037:Gpr137c UTSW 14 45220230 missense probably damaging 0.99
R4038:Gpr137c UTSW 14 45220230 missense probably damaging 0.99
R4213:Gpr137c UTSW 14 45246508 missense probably damaging 0.99
R4986:Gpr137c UTSW 14 45246286 critical splice acceptor site probably null
R5521:Gpr137c UTSW 14 45278694 missense possibly damaging 0.92
R6028:Gpr137c UTSW 14 45277481 missense probably damaging 0.96
R7117:Gpr137c UTSW 14 45279027 missense probably damaging 1.00
R7238:Gpr137c UTSW 14 45278691 missense probably damaging 1.00
R7365:Gpr137c UTSW 14 45279014 missense probably damaging 1.00
X0027:Gpr137c UTSW 14 45278669 missense probably benign 0.14
Posted On2012-12-06