Incidental Mutation 'IGL03017:Gpr45'
ID407929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr45
Ensembl Gene ENSMUSG00000041907
Gene NameG protein-coupled receptor 45
SynonymsPSP24alpha, 9230112G11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03017
Quality Score
Status
Chromosome1
Chromosomal Location42952872-43035456 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 43032356 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 53 (T53M)
Ref Sequence ENSEMBL: ENSMUSP00000135986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114761] [ENSMUST00000179766]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114761
AA Change: T53M

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110409
Gene: ENSMUSG00000041907
AA Change: T53M

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 42 188 5.5e-9 PFAM
Pfam:7TM_GPCR_Srsx 45 340 1.9e-7 PFAM
Pfam:7tm_1 51 325 2.4e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179655
SMART Domains Protein: ENSMUSP00000136725
Gene: ENSMUSG00000096364

DomainStartEndE-ValueType
low complexity region 90 102 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179766
AA Change: T53M

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135986
Gene: ENSMUSG00000041907
AA Change: T53M

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 42 189 7.1e-9 PFAM
Pfam:7TM_GPCR_Srsx 45 340 1.9e-7 PFAM
Pfam:7tm_1 51 325 2.1e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 C A 3: 87,717,060 Y519* probably null Het
Arhgef26 T A 3: 62,448,281 M758K possibly damaging Het
Ccdc187 T C 2: 26,280,966 Y500C probably benign Het
Cul5 A T 9: 53,644,485 probably null Het
Dnah5 A C 15: 28,340,325 I2293L possibly damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Hoxd3 T A 2: 74,746,706 M310K possibly damaging Het
Mtr A G 13: 12,247,891 probably null Het
Mup4 T A 4: 59,957,890 N171I probably damaging Het
Myo15b T A 11: 115,887,917 I1157N possibly damaging Het
Myo1d C T 11: 80,601,626 V768I probably benign Het
Nlrp4c T C 7: 6,084,680 C771R probably benign Het
Olfr390 C A 11: 73,787,518 H193Q probably benign Het
Patj G A 4: 98,465,027 probably benign Het
Pkp3 C A 7: 141,083,370 A376D probably benign Het
Pkp4 T C 2: 59,266,425 V57A probably benign Het
Poteg A T 8: 27,462,041 K232N probably benign Het
Psat1 G T 19: 15,917,135 A168E possibly damaging Het
Rassf8 T A 6: 145,817,198 probably null Het
Slc37a3 T A 6: 39,349,381 I281L probably benign Het
Sncaip A T 18: 52,894,937 H466L possibly damaging Het
Ttn T C 2: 76,787,116 E16337G probably damaging Het
Ttn T C 2: 76,868,302 T30A possibly damaging Het
Usp13 G A 3: 32,915,712 M662I possibly damaging Het
Vmn2r111 A T 17: 22,570,858 M389K probably damaging Het
Vmn2r39 A C 7: 9,014,941 Y799D probably damaging Het
Other mutations in Gpr45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Gpr45 APN 1 43032292 missense possibly damaging 0.77
IGL01528:Gpr45 APN 1 43033223 missense probably benign 0.00
IGL01833:Gpr45 APN 1 43032242 missense probably benign
IGL02034:Gpr45 APN 1 43033318 makesense probably null
IGL02230:Gpr45 APN 1 43032656 missense probably damaging 1.00
IGL02279:Gpr45 APN 1 43032838 missense probably damaging 0.96
IGL02394:Gpr45 APN 1 43030112 intron probably benign
IGL02795:Gpr45 APN 1 43032493 missense possibly damaging 0.82
IGL02902:Gpr45 APN 1 43033211 missense possibly damaging 0.67
expansive UTSW 1 43032838 missense probably damaging 0.96
extensive UTSW 1 43033058 missense probably damaging 1.00
R0368:Gpr45 UTSW 1 43033016 missense probably damaging 1.00
R2964:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R2965:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R2966:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R4551:Gpr45 UTSW 1 43032790 missense probably benign 0.00
R4681:Gpr45 UTSW 1 43032908 missense probably benign 0.00
R4821:Gpr45 UTSW 1 43030453 intron probably benign
R4966:Gpr45 UTSW 1 43033120 missense probably benign 0.00
R5054:Gpr45 UTSW 1 43032649 missense probably benign 0.38
R5319:Gpr45 UTSW 1 43032838 missense probably damaging 0.96
R5667:Gpr45 UTSW 1 43033058 missense probably damaging 1.00
R5671:Gpr45 UTSW 1 43033058 missense probably damaging 1.00
R7250:Gpr45 UTSW 1 43032371 missense probably damaging 1.00
Posted On2016-08-02