Incidental Mutation 'IGL01453:Olfr1112'
ID84688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1112
Ensembl Gene ENSMUSG00000044487
Gene Nameolfactory receptor 1112
SynonymsGA_x6K02T2Q125-48676316-48677272, MOR264-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01453
Quality Score
Status
Chromosome2
Chromosomal Location87187798-87192767 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87191848 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 54 (I54V)
Ref Sequence ENSEMBL: ENSMUSP00000149960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053050] [ENSMUST00000216772]
Predicted Effect probably benign
Transcript: ENSMUST00000053050
AA Change: I54V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: I54V

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 2.4e-52 PFAM
Pfam:7tm_1 48 297 1.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216772
AA Change: I54V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcb5 A G 12: 118,867,970 S1216P probably damaging Het
Abl1 A G 2: 31,778,977 T104A probably damaging Het
Adgrg6 A T 10: 14,420,458 M1066K possibly damaging Het
Armc1 T C 3: 19,144,430 N122S probably benign Het
Fat1 C T 8: 45,051,270 T4600M probably damaging Het
Hrh1 T A 6: 114,481,162 I468N probably damaging Het
Krt34 A T 11: 100,040,090 L162Q probably damaging Het
Macrod2 A T 2: 140,452,572 probably benign Het
Mfsd9 C A 1: 40,790,478 probably benign Het
Nap1l1 C T 10: 111,492,978 T256I probably benign Het
Olfr190 T C 16: 59,074,769 I104V probably benign Het
Olfr424 A G 1: 174,137,113 Y123C possibly damaging Het
Pard6a T A 8: 105,702,677 probably null Het
Pmm2 G A 16: 8,648,668 R119Q probably damaging Het
Por C T 5: 135,734,186 Q517* probably null Het
Ppil6 T C 10: 41,498,477 I118T probably benign Het
Psg26 A G 7: 18,480,074 V221A possibly damaging Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpl27a T A 7: 109,519,625 V15E probably benign Het
Setd1b T C 5: 123,158,464 probably benign Het
Slc17a1 A G 13: 23,874,731 N56S probably damaging Het
Sybu A T 15: 44,672,805 D508E probably damaging Het
Tada2b A C 5: 36,476,342 N222K probably damaging Het
Tbcb T C 7: 30,231,202 probably null Het
Tmprss11f C A 5: 86,544,832 G78* probably null Het
Vmn2r65 T C 7: 84,940,500 Y736C probably damaging Het
Zc3h7a G A 16: 11,149,378 P517S probably benign Het
Zfp280d A G 9: 72,322,586 T392A possibly damaging Het
Zfp318 T A 17: 46,409,016 probably null Het
Other mutations in Olfr1112
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0665:Olfr1112 UTSW 2 87192308 missense probably damaging 1.00
R1698:Olfr1112 UTSW 2 87191737 missense probably benign 0.00
R1717:Olfr1112 UTSW 2 87191903 missense probably benign 0.38
R1768:Olfr1112 UTSW 2 87191698 missense probably benign
R1872:Olfr1112 UTSW 2 87191878 missense possibly damaging 0.96
R3441:Olfr1112 UTSW 2 87191818 missense probably benign 0.00
R4017:Olfr1112 UTSW 2 87192502 missense probably benign 0.03
R4895:Olfr1112 UTSW 2 87191848 missense probably benign 0.00
R5451:Olfr1112 UTSW 2 87192452 missense probably damaging 1.00
R6171:Olfr1112 UTSW 2 87192365 missense possibly damaging 0.77
R6851:Olfr1112 UTSW 2 87192469 missense probably benign 0.37
R7263:Olfr1112 UTSW 2 87192132 nonsense probably null
R7622:Olfr1112 UTSW 2 87192250 missense probably benign 0.01
R7659:Olfr1112 UTSW 2 87192365 missense possibly damaging 0.77
R7798:Olfr1112 UTSW 2 87192292 missense probably benign 0.00
R7880:Olfr1112 UTSW 2 87192090 nonsense probably null
R7963:Olfr1112 UTSW 2 87192090 nonsense probably null
Posted On2013-11-11