Incidental Mutation 'IGL03008:Or8k41'
ID 407629
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 # IGL03008
Quality Score
Status
Chromosome 2
Chromosomal Location 86313143-86314084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86313678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 136 (M136K)
Ref Sequence ENSEMBL: ENSMUSP00000149449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]
AlphaFold A0A1L1SR98
Predicted Effect probably damaging
Transcript: ENSMUST00000099883
AA Change: M136K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: M136K

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-54 PFAM
Pfam:7tm_1 41 290 5.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215705
Predicted Effect probably damaging
Transcript: ENSMUST00000216534
AA Change: M136K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217292
AA Change: M136K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dab1 G T 4: 104,584,777 (GRCm39) V306F probably damaging Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Eya3 A C 4: 132,434,294 (GRCm39) D325A probably damaging Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Mtfr2 T A 10: 20,229,185 (GRCm39) C63S possibly damaging Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Myocd A C 11: 65,078,392 (GRCm39) L340V probably damaging Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Rnf10 G T 5: 115,389,355 (GRCm39) H271N possibly damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) probably null 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
IGL02419:Or8k41 APN 2 86,313,259 (GRCm39) missense probably damaging 0.99
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 2016-08-02