Incidental Mutation 'IGL01643:Or4c12b'
ID 93582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c12b
Ensembl Gene ENSMUSG00000045148
Gene Name olfactory receptor family 4 subfamily C member 12B
Synonyms MOR232-4, GA_x6K02T2Q125-51257221-51258135, Olfr1255
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01643
Quality Score
Status
Chromosome 2
Chromosomal Location 89646672-89647604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89647017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 116 (I116F)
Ref Sequence ENSEMBL: ENSMUSP00000060602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057369] [ENSMUST00000214508]
AlphaFold A2AUA4
Predicted Effect probably damaging
Transcript: ENSMUST00000057369
AA Change: I116F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060602
Gene: ENSMUSG00000045148
AA Change: I116F

DomainStartEndE-ValueType
Pfam:7tm_4 35 309 5.2e-44 PFAM
Pfam:7tm_1 45 291 4.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214508
AA Change: I110F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,082,414 (GRCm39) R304Q probably damaging Het
Afap1l1 T A 18: 61,884,897 (GRCm39) E196V probably damaging Het
Bmp5 A T 9: 75,746,895 (GRCm39) D251V probably damaging Het
Ccser1 A G 6: 61,288,839 (GRCm39) H334R probably benign Het
Crnkl1 A G 2: 145,773,268 (GRCm39) M126T probably damaging Het
Ddrgk1 T C 2: 130,500,214 (GRCm39) probably benign Het
Dpy19l4 T C 4: 11,290,184 (GRCm39) probably benign Het
Eral1 A G 11: 77,965,104 (GRCm39) probably null Het
Ereg T A 5: 91,234,637 (GRCm39) S17T probably benign Het
Fgfr1 T A 8: 26,056,751 (GRCm39) M280K probably benign Het
Gpr65 A G 12: 98,242,013 (GRCm39) E222G probably damaging Het
Grid1 G T 14: 35,045,392 (GRCm39) probably null Het
Hspa12b A G 2: 130,984,617 (GRCm39) T329A probably damaging Het
Inpp4b A G 8: 82,798,400 (GRCm39) I863V probably damaging Het
Kash5 A T 7: 44,849,710 (GRCm39) M71K probably damaging Het
Krt8 G T 15: 101,905,508 (GRCm39) S447Y possibly damaging Het
Lama2 T A 10: 26,946,368 (GRCm39) probably benign Het
Lama4 A C 10: 38,932,846 (GRCm39) N574T probably benign Het
Lig3 T C 11: 82,689,118 (GRCm39) S791P probably damaging Het
Oas2 A T 5: 120,874,252 (GRCm39) probably benign Het
Pdk1 A G 2: 71,728,049 (GRCm39) D370G probably damaging Het
Popdc3 T A 10: 45,190,976 (GRCm39) I29N probably damaging Het
Rbp3 A T 14: 33,678,793 (GRCm39) I914F probably benign Het
Rnf207 C T 4: 152,402,718 (GRCm39) probably benign Het
Ryr2 T A 13: 11,707,563 (GRCm39) I2825F possibly damaging Het
Slc37a2 A T 9: 37,146,849 (GRCm39) probably benign Het
Vps8 T C 16: 21,336,972 (GRCm39) V791A possibly damaging Het
Wdr64 T C 1: 175,599,877 (GRCm39) L127P probably damaging Het
Whrn T C 4: 63,334,672 (GRCm39) T368A possibly damaging Het
Other mutations in Or4c12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02902:Or4c12b APN 2 89,647,508 (GRCm39) nonsense probably null
IGL03077:Or4c12b APN 2 89,647,486 (GRCm39) missense probably damaging 1.00
IGL03087:Or4c12b APN 2 89,647,015 (GRCm39) missense probably damaging 1.00
IGL03371:Or4c12b APN 2 89,647,509 (GRCm39) missense possibly damaging 0.64
R0683:Or4c12b UTSW 2 89,647,522 (GRCm39) missense probably damaging 1.00
R1428:Or4c12b UTSW 2 89,646,725 (GRCm39) missense probably damaging 1.00
R1567:Or4c12b UTSW 2 89,647,528 (GRCm39) missense probably damaging 1.00
R3810:Or4c12b UTSW 2 89,647,395 (GRCm39) missense probably damaging 1.00
R3812:Or4c12b UTSW 2 89,647,395 (GRCm39) missense probably damaging 1.00
R4900:Or4c12b UTSW 2 89,647,312 (GRCm39) missense possibly damaging 0.58
R5538:Or4c12b UTSW 2 89,646,964 (GRCm39) missense probably damaging 1.00
R5770:Or4c12b UTSW 2 89,646,893 (GRCm39) missense probably damaging 1.00
R5894:Or4c12b UTSW 2 89,647,557 (GRCm39) missense possibly damaging 0.59
R5942:Or4c12b UTSW 2 89,646,684 (GRCm39) nonsense probably null
R6263:Or4c12b UTSW 2 89,647,104 (GRCm39) missense probably damaging 1.00
R6271:Or4c12b UTSW 2 89,646,906 (GRCm39) missense probably damaging 0.99
R6651:Or4c12b UTSW 2 89,647,240 (GRCm39) missense probably benign 0.13
R7298:Or4c12b UTSW 2 89,646,865 (GRCm39) missense probably damaging 0.98
R7379:Or4c12b UTSW 2 89,647,033 (GRCm39) missense probably benign 0.00
R7465:Or4c12b UTSW 2 89,646,880 (GRCm39) missense probably damaging 1.00
R7546:Or4c12b UTSW 2 89,647,538 (GRCm39) missense probably damaging 0.99
R7546:Or4c12b UTSW 2 89,647,363 (GRCm39) missense probably benign 0.00
R8458:Or4c12b UTSW 2 89,647,494 (GRCm39) missense probably damaging 0.98
R9513:Or4c12b UTSW 2 89,647,553 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09