Incidental Mutation 'IGL02419:Or8k41'
ID 292560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k41
Ensembl Gene ENSMUSG00000111772
Gene Name olfactory receptor family 8 subfamily K member 41
Synonyms Olfr228, Olfr1071, GA_x6K02T0101M-139-669, MOR189-3, GA_x6K02T2Q125-47962802-47962551
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL02419
Quality Score
Status
Chromosome 2
Chromosomal Location 86313143-86314084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86313259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 276 (I276F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]
AlphaFold A0A1L1SR98
Predicted Effect probably damaging
Transcript: ENSMUST00000099883
AA Change: I276F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: I276F

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-54 PFAM
Pfam:7tm_1 41 290 5.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216534
AA Change: I276F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217292
AA Change: I276F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in Or8k41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Or8k41 APN 2 86,313,562 (GRCm39) missense probably benign 0.05
IGL02136:Or8k41 APN 2 86,313,809 (GRCm39) missense probably damaging 1.00
IGL03008:Or8k41 APN 2 86,313,678 (GRCm39) missense probably damaging 1.00
R0240:Or8k41 UTSW 2 86,313,730 (GRCm39) missense possibly damaging 0.78
R0240:Or8k41 UTSW 2 86,313,730 (GRCm39) missense possibly damaging 0.78
R1073:Or8k41 UTSW 2 86,313,984 (GRCm39) missense probably damaging 0.98
R1163:Or8k41 UTSW 2 86,313,582 (GRCm39) missense probably damaging 1.00
R1505:Or8k41 UTSW 2 86,313,557 (GRCm39) missense possibly damaging 0.94
R1806:Or8k41 UTSW 2 86,313,483 (GRCm39) missense probably damaging 0.99
R1940:Or8k41 UTSW 2 86,313,703 (GRCm39) nonsense probably null
R3025:Or8k41 UTSW 2 86,314,083 (GRCm39) start codon destroyed probably null 1.00
R3037:Or8k41 UTSW 2 86,313,987 (GRCm39) missense probably damaging 0.96
R5156:Or8k41 UTSW 2 86,313,362 (GRCm39) nonsense probably null
R6459:Or8k41 UTSW 2 86,313,573 (GRCm39) missense probably benign 0.23
R6472:Or8k41 UTSW 2 86,313,534 (GRCm39) nonsense probably null
R6493:Or8k41 UTSW 2 86,313,565 (GRCm39) missense possibly damaging 0.59
R6880:Or8k41 UTSW 2 86,314,069 (GRCm39) missense probably benign
R7283:Or8k41 UTSW 2 86,313,483 (GRCm39) missense probably damaging 0.99
R8113:Or8k41 UTSW 2 86,313,412 (GRCm39) missense probably damaging 1.00
R9799:Or8k41 UTSW 2 86,313,732 (GRCm39) missense probably damaging 1.00
X0028:Or8k41 UTSW 2 86,313,234 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16