Incidental Mutation 'IGL02445:Or4p18'
ID 293571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p18
Ensembl Gene ENSMUSG00000075127
Gene Name olfactory receptor family 4 subfamily P member 18
Synonyms MOR225-2, GA_x6K02T2Q125-49890854-49889931, Olfr1179
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02445
Quality Score
Status
Chromosome 2
Chromosomal Location 88232353-88233276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88232456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 274 (T274I)
Ref Sequence ENSEMBL: ENSMUSP00000151174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099825] [ENSMUST00000213157] [ENSMUST00000214040]
AlphaFold A2AUS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099825
AA Change: T274I

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: T274I

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-47 PFAM
Pfam:7tm_1 39 285 3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213157
AA Change: T274I

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000214040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219086
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
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Cblb T C 16: 51,986,668 (GRCm39) L485P probably damaging Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Ddx19b C A 8: 111,735,456 (GRCm39) V402L probably damaging Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Ezh1 A C 11: 101,101,513 (GRCm39) V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 (GRCm39) G100D probably damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Papolb G A 5: 142,514,480 (GRCm39) H388Y probably benign Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably damaging Het
Other mutations in Or4p18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Or4p18 APN 2 88,232,421 (GRCm39) missense possibly damaging 0.95
R0127:Or4p18 UTSW 2 88,232,699 (GRCm39) missense probably benign 0.05
R0604:Or4p18 UTSW 2 88,232,727 (GRCm39) missense probably benign 0.03
R1526:Or4p18 UTSW 2 88,232,777 (GRCm39) missense probably damaging 1.00
R1816:Or4p18 UTSW 2 88,232,943 (GRCm39) missense possibly damaging 0.65
R2041:Or4p18 UTSW 2 88,232,568 (GRCm39) missense probably damaging 1.00
R3694:Or4p18 UTSW 2 88,232,540 (GRCm39) missense possibly damaging 0.80
R4229:Or4p18 UTSW 2 88,233,227 (GRCm39) missense possibly damaging 0.67
R4735:Or4p18 UTSW 2 88,233,267 (GRCm39) missense probably benign 0.02
R4974:Or4p18 UTSW 2 88,232,756 (GRCm39) missense probably damaging 1.00
R5173:Or4p18 UTSW 2 88,233,266 (GRCm39) missense probably benign 0.00
R5909:Or4p18 UTSW 2 88,232,535 (GRCm39) missense probably damaging 0.98
R6931:Or4p18 UTSW 2 88,232,408 (GRCm39) missense probably benign 0.01
R6990:Or4p18 UTSW 2 88,232,639 (GRCm39) missense probably benign 0.13
R7167:Or4p18 UTSW 2 88,232,552 (GRCm39) missense possibly damaging 0.46
R8121:Or4p18 UTSW 2 88,233,040 (GRCm39) missense probably benign
R8140:Or4p18 UTSW 2 88,232,457 (GRCm39) missense possibly damaging 0.74
R8269:Or4p18 UTSW 2 88,232,381 (GRCm39) missense probably damaging 0.98
R8832:Or4p18 UTSW 2 88,233,137 (GRCm39) missense probably damaging 0.98
R9269:Or4p18 UTSW 2 88,232,586 (GRCm39) missense probably benign 0.06
Z1176:Or4p18 UTSW 2 88,232,466 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16