Incidental Mutation 'IGL03053:Olfr1178'
ID409129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1178
Ensembl Gene ENSMUSG00000056995
Gene Nameolfactory receptor 1178
SynonymsGA_x6K02T2Q125-49870417-49871388, MOR225-6P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03053
Quality Score
Status
Chromosome2
Chromosomal Location88387062-88400799 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88391594 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 116 (M116V)
Ref Sequence ENSEMBL: ENSMUSP00000150036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]
Predicted Effect probably damaging
Transcript: ENSMUST00000075640
AA Change: M116V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: M116V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-49 PFAM
Pfam:7tm_1 39 285 7.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214040
AA Change: M116V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219086
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Olfr1178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Olfr1178 APN 2 88391901 missense possibly damaging 0.79
IGL02261:Olfr1178 APN 2 88391381 missense probably benign 0.05
IGL03023:Olfr1178 APN 2 88391343 missense probably damaging 1.00
IGL03168:Olfr1178 APN 2 88391594 missense probably damaging 1.00
R0432:Olfr1178 UTSW 2 88392033 missense probably damaging 0.98
R1738:Olfr1178 UTSW 2 88391327 missense probably benign 0.01
R2051:Olfr1178 UTSW 2 88391538 missense possibly damaging 0.49
R2136:Olfr1178 UTSW 2 88391319 missense probably benign 0.24
R3236:Olfr1178 UTSW 2 88391406 missense probably benign 0.01
R4407:Olfr1178 UTSW 2 88392083 missense probably benign 0.37
R4930:Olfr1178 UTSW 2 88391940 missense probably benign 0.12
R4959:Olfr1178 UTSW 2 88391330 missense probably benign 0.37
R4973:Olfr1178 UTSW 2 88391330 missense probably benign 0.37
R5178:Olfr1178 UTSW 2 88391475 missense possibly damaging 0.50
R5411:Olfr1178 UTSW 2 88391261 missense probably benign 0.01
R6282:Olfr1178 UTSW 2 88391533 nonsense probably null
R7289:Olfr1178 UTSW 2 88391706 missense probably damaging 0.99
R7493:Olfr1178 UTSW 2 88391880 missense possibly damaging 0.94
R7591:Olfr1178 UTSW 2 88391876 missense probably benign 0.17
R8060:Olfr1178 UTSW 2 88391504 missense probably benign 0.00
R8242:Olfr1178 UTSW 2 88392074 missense possibly damaging 0.50
Z1176:Olfr1178 UTSW 2 88392033 missense probably damaging 1.00
Posted On2016-08-02