Incidental Mutation 'IGL03029:Olfr1357'
ID408333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1357
Ensembl Gene ENSMUSG00000071185
Gene Nameolfactory receptor 1357
SynonymsMOR128-4, GA_x6K02T2QGN0-3196801-3197742, MOR128-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL03029
Quality Score
Status
Chromosome10
Chromosomal Location78611003-78618074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78611958 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 228 (I228F)
Ref Sequence ENSEMBL: ENSMUSP00000150167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095473] [ENSMUST00000203305] [ENSMUST00000205085] [ENSMUST00000213877]
Predicted Effect probably benign
Transcript: ENSMUST00000095473
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203305
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 235 1.3e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 215 7.7e-11 PFAM
Pfam:7tm_1 41 234 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205085
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: I228F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213877
AA Change: I228F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,435,115 D213V probably damaging Het
Akap6 T C 12: 52,886,412 L229P probably damaging Het
Ankrd10 A T 8: 11,619,304 probably null Het
Arfgap3 C T 15: 83,322,650 E246K probably damaging Het
Cadps G T 14: 12,376,675 T1274K probably damaging Het
Cd46 T C 1: 195,086,143 T89A probably benign Het
Cylc1 A C X: 111,113,338 probably benign Het
Dach2 T A X: 113,815,136 L492* probably null Het
Dlc1 T C 8: 36,571,262 probably null Het
Fam71e2 G T 7: 4,757,840 N624K possibly damaging Het
Fanci T C 7: 79,443,999 V1033A probably benign Het
Fat4 T C 3: 38,982,591 I3464T possibly damaging Het
Fus A G 7: 127,985,540 probably benign Het
Hectd3 G T 4: 116,996,965 E271* probably null Het
Herc2 T C 7: 56,168,967 L2802P probably damaging Het
Hk2 G A 6: 82,738,333 R407C probably damaging Het
Josd2 T C 7: 44,471,177 S71P probably damaging Het
Kdelc2 T C 9: 53,384,288 probably null Het
Kif20b A G 19: 34,950,913 T1152A probably benign Het
Myo15b G A 11: 115,871,643 V1229I probably benign Het
Nup188 T C 2: 30,322,580 probably benign Het
Pank1 T A 19: 34,821,135 I476F probably damaging Het
Pdcd6 A G 13: 74,309,780 Y91H probably damaging Het
Pik3r3 T G 4: 116,299,801 V393G probably damaging Het
Prx C T 7: 27,508,061 R48* probably null Het
Rbm5 A G 9: 107,754,453 S222P possibly damaging Het
Rev3l T A 10: 39,828,486 I302N probably benign Het
Rnf139 T C 15: 58,899,118 F331L probably damaging Het
Shisa4 G T 1: 135,373,176 Q119K probably damaging Het
Shisa6 T A 11: 66,218,013 E346V probably damaging Het
Slc6a3 A T 13: 73,538,697 E61V probably damaging Het
Slc9a7 T A X: 20,291,369 M106L probably benign Het
Srek1 A G 13: 103,763,960 probably benign Het
Strc G A 2: 121,364,044 L1788F possibly damaging Het
Styk1 T C 6: 131,300,560 S284G probably benign Het
Top2a T A 11: 99,018,799 T158S probably benign Het
Vangl1 C T 3: 102,184,084 V229M probably damaging Het
Vsig1 A G X: 140,926,512 T137A possibly damaging Het
Other mutations in Olfr1357
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Olfr1357 APN 10 78612126 missense probably benign 0.02
IGL02201:Olfr1357 APN 10 78612270 missense probably damaging 0.96
IGL03094:Olfr1357 APN 10 78612119 missense possibly damaging 0.80
R0207:Olfr1357 UTSW 10 78611871 missense probably benign
R0563:Olfr1357 UTSW 10 78612633 missense probably benign
R0745:Olfr1357 UTSW 10 78612122 missense probably benign 0.02
R1607:Olfr1357 UTSW 10 78612140 missense probably benign 0.08
R2419:Olfr1357 UTSW 10 78612387 missense probably benign 0.34
R4198:Olfr1357 UTSW 10 78612067 missense possibly damaging 0.69
R4199:Olfr1357 UTSW 10 78612067 missense possibly damaging 0.69
R4200:Olfr1357 UTSW 10 78612067 missense possibly damaging 0.69
R4619:Olfr1357 UTSW 10 78612575 missense probably benign
R6152:Olfr1357 UTSW 10 78612575 missense probably benign
R6836:Olfr1357 UTSW 10 78612590 missense probably damaging 1.00
R6843:Olfr1357 UTSW 10 78612057 missense probably damaging 1.00
R7266:Olfr1357 UTSW 10 78612614 missense probably benign 0.07
R8104:Olfr1357 UTSW 10 78612408 missense probably benign 0.29
Z1176:Olfr1357 UTSW 10 78612056 missense probably damaging 1.00
Z1177:Olfr1357 UTSW 10 78612151 missense probably benign 0.40
Posted On2016-08-02