Incidental Mutation 'IGL02669:Or4c118'
ID 302865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c118
Ensembl Gene ENSMUSG00000075100
Gene Name olfactory receptor family 4 subfamily C member 118
Synonyms MOR233-10, Olfr1223, GA_x6K02T2Q125-50623664-50622729
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02669
Quality Score
Status
Chromosome 2
Chromosomal Location 88974430-88981680 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88974564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 268 (K268*)
Ref Sequence ENSEMBL: ENSMUSP00000150550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]
AlphaFold A0A1L1SU13
Predicted Effect probably null
Transcript: ENSMUST00000099793
AA Change: K268*
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: K268*

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000217342
AA Change: K268*
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Aoc1l2 A G 6: 48,908,407 (GRCm39) Y469C probably damaging Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Erlin1 G T 19: 44,027,658 (GRCm39) A260E probably damaging Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nup88 A G 11: 70,847,110 (GRCm39) M300T probably damaging Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Tubb3 T C 8: 124,147,856 (GRCm39) L263P probably damaging Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Vps33b A G 7: 79,925,786 (GRCm39) probably benign Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Or4c118
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Or4c118 APN 2 88,974,575 (GRCm39) missense possibly damaging 0.55
IGL01560:Or4c118 APN 2 88,974,947 (GRCm39) missense probably damaging 1.00
IGL01817:Or4c118 APN 2 88,974,702 (GRCm39) missense probably benign 0.01
IGL03270:Or4c118 APN 2 88,975,089 (GRCm39) missense probably damaging 0.98
R0062:Or4c118 UTSW 2 88,974,966 (GRCm39) missense possibly damaging 0.95
R0062:Or4c118 UTSW 2 88,974,966 (GRCm39) missense possibly damaging 0.95
R0304:Or4c118 UTSW 2 88,975,108 (GRCm39) nonsense probably null
R1651:Or4c118 UTSW 2 88,975,346 (GRCm39) missense probably damaging 1.00
R1971:Or4c118 UTSW 2 88,975,078 (GRCm39) nonsense probably null
R2006:Or4c118 UTSW 2 88,975,241 (GRCm39) missense probably benign 0.21
R2101:Or4c118 UTSW 2 88,975,301 (GRCm39) missense probably benign 0.03
R2410:Or4c118 UTSW 2 88,974,899 (GRCm39) missense possibly damaging 0.88
R3683:Or4c118 UTSW 2 88,975,364 (GRCm39) start codon destroyed probably null 1.00
R3685:Or4c118 UTSW 2 88,975,364 (GRCm39) start codon destroyed probably null 1.00
R3939:Or4c118 UTSW 2 88,974,474 (GRCm39) nonsense probably null
R6162:Or4c118 UTSW 2 88,975,114 (GRCm39) missense probably benign 0.00
R8431:Or4c118 UTSW 2 88,974,723 (GRCm39) missense probably benign 0.06
R8842:Or4c118 UTSW 2 88,975,074 (GRCm39) missense probably benign
R9631:Or4c118 UTSW 2 88,975,522 (GRCm39) start gained probably benign
Posted On 2015-04-16