Incidental Mutation 'IGL02354:Or4c1'
ID 289602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c1
Ensembl Gene ENSMUSG00000075093
Gene Name olfactory receptor family 4 subfamily C member 1
Synonyms MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02354
Quality Score
Status
Chromosome 2
Chromosomal Location 89132993-89133934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89133526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 137 (M137L)
Ref Sequence ENSEMBL: ENSMUSP00000150310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]
AlphaFold Q7TQZ8
Predicted Effect probably benign
Transcript: ENSMUST00000099786
AA Change: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: M137L

DomainStartEndE-ValueType
Pfam:7tm_4 32 306 7e-43 PFAM
Pfam:7tm_1 42 288 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216144
AA Change: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,322,498 (GRCm39) L164F possibly damaging Het
Bfsp1 T C 2: 143,673,907 (GRCm39) E261G probably damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cacng3 T G 7: 122,271,169 (GRCm39) M58R possibly damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,534 (GRCm39) S376P probably damaging Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Madd A T 2: 90,992,543 (GRCm39) V1043E probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Sall1 G T 8: 89,759,677 (GRCm39) S142R probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Snapc4 A G 2: 26,257,319 (GRCm39) probably benign Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tbc1d10a T C 11: 4,165,047 (GRCm39) V500A probably benign Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) probably null Het
Other mutations in Or4c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Or4c1 APN 2 89,133,816 (GRCm39) missense possibly damaging 0.90
IGL02189:Or4c1 APN 2 89,133,641 (GRCm39) missense probably damaging 1.00
IGL02361:Or4c1 APN 2 89,133,526 (GRCm39) missense probably benign 0.03
PIT4305001:Or4c1 UTSW 2 89,133,727 (GRCm39) missense probably benign 0.05
R0973:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R0973:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R0974:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R2006:Or4c1 UTSW 2 89,133,160 (GRCm39) missense possibly damaging 0.60
R3150:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3177:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3277:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3409:Or4c1 UTSW 2 89,133,717 (GRCm39) missense probably benign
R4208:Or4c1 UTSW 2 89,133,270 (GRCm39) missense probably damaging 1.00
R4412:Or4c1 UTSW 2 89,133,684 (GRCm39) missense probably benign 0.00
R4693:Or4c1 UTSW 2 89,133,621 (GRCm39) missense probably benign 0.07
R4697:Or4c1 UTSW 2 89,133,247 (GRCm39) missense probably damaging 1.00
R4697:Or4c1 UTSW 2 89,133,246 (GRCm39) missense possibly damaging 0.90
R5411:Or4c1 UTSW 2 89,133,920 (GRCm39) missense probably benign
R5992:Or4c1 UTSW 2 89,133,703 (GRCm39) missense possibly damaging 0.50
R6894:Or4c1 UTSW 2 89,133,837 (GRCm39) missense probably damaging 1.00
R8017:Or4c1 UTSW 2 89,133,595 (GRCm39) missense possibly damaging 0.94
R8019:Or4c1 UTSW 2 89,133,595 (GRCm39) missense possibly damaging 0.94
R9274:Or4c1 UTSW 2 89,133,513 (GRCm39) missense probably damaging 0.98
R9457:Or4c1 UTSW 2 89,133,075 (GRCm39) missense probably damaging 1.00
X0064:Or4c1 UTSW 2 89,133,246 (GRCm39) missense possibly damaging 0.72
X0067:Or4c1 UTSW 2 89,133,498 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16