Incidental Mutation 'IGL01609:Olfr1357'
ID91915
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 #IGL01609
Quality Score
Status
Chromosome10
Chromosomal Location78611003-78618074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 78612126 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 172 (S172A)
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: S172A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: S172A

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: S172A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: S172A

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: S172A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: S172A

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: S172A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,822,021 V299A probably benign Het
Actr5 T C 2: 158,636,802 probably null Het
Arhgap18 A G 10: 26,880,748 D448G possibly damaging Het
Bcl9 T C 3: 97,208,975 E801G probably benign Het
Bin1 A G 18: 32,419,925 N232S probably damaging Het
Brf1 A C 12: 112,963,591 Y459D probably damaging Het
Clca4a T A 3: 144,953,780 I772F probably damaging Het
Cyp2a4 G A 7: 26,308,663 probably null Het
Dync1i2 T A 2: 71,247,008 probably benign Het
Frem3 T A 8: 80,612,704 M542K probably benign Het
Gm9992 A G 17: 7,369,739 V130A probably damaging Het
Gpbp1 T C 13: 111,439,202 T256A possibly damaging Het
Ighm T C 12: 113,421,234 probably benign Het
Igkv3-12 A G 6: 70,518,248 probably benign Het
Kdm4d A G 9: 14,464,418 V48A probably damaging Het
Lama2 T C 10: 27,344,421 S483G probably benign Het
Lbp A C 2: 158,328,412 Q464P probably damaging Het
Lipo4 T C 19: 33,499,254 T365A probably benign Het
Mark3 T C 12: 111,627,522 F274S probably damaging Het
Mcm3 A T 1: 20,814,680 probably benign Het
Mrpl9 T A 3: 94,444,694 F137I probably damaging Het
Msh4 G T 3: 153,897,397 A93E probably damaging Het
Mthfd1l T A 10: 4,018,567 D407E probably benign Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1406 G A 1: 173,184,276 H53Y probably benign Het
Pcsk2 G T 2: 143,801,158 V452L possibly damaging Het
Pcsk6 G A 7: 66,035,273 probably null Het
Pmfbp1 A G 8: 109,527,716 E461G probably benign Het
Pole2 A G 12: 69,207,857 probably null Het
Postn T C 3: 54,369,228 M176T probably damaging Het
Prss12 T A 3: 123,482,834 C371S probably damaging Het
Rnf11 T A 4: 109,456,976 Q72L possibly damaging Het
Rrad A G 8: 104,629,824 probably null Het
Slitrk3 T A 3: 73,050,237 I401F probably damaging Het
Themis A G 10: 28,668,753 probably benign Het
Tmem45a A G 16: 56,811,565 I230T probably benign Het
Tnni1 C A 1: 135,805,496 probably null Het
Trpa1 A T 1: 14,912,383 I83N probably damaging Het
Uggt1 T C 1: 36,182,474 Y54C probably damaging Het
Umodl1 C T 17: 30,998,826 T1202I possibly damaging Het
Usp37 G A 1: 74,475,040 A324V probably benign Het
Zfp808 T A 13: 62,173,209 C751S probably damaging Het
Other mutations in Olfr1357
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02201:Olfr1357 APN 10 78612270 missense probably damaging 0.96
IGL03029:Olfr1357 APN 10 78611958 missense probably benign 0.14
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 On2013-12-09