Incidental Mutation 'IGL01346:Or4c118'
ID 75044
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: 0.050) question?
Stock # IGL01346
Quality Score
Status
Chromosome 2
Chromosomal Location 88974430-88981680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88974575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 264 (F264S)
Ref Sequence ENSEMBL: ENSMUSP00000097381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]
AlphaFold A0A1L1SU13
Predicted Effect possibly damaging
Transcript: ENSMUST00000099793
AA Change: F264S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: F264S

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111554
AA Change: F264S

PolyPhen 2 Score 0.060 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: F264S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.1e-48 PFAM
Pfam:7tm_1 39 286 1.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217342
AA Change: F264S

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Or4c118
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02669:Or4c118 APN 2 88,974,564 (GRCm39) nonsense probably null
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 2013-10-07