Incidental Mutation 'IGL02481:Or10k2'
ID 295189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10k2
Ensembl Gene ENSMUSG00000047286
Gene Name olfactory receptor family 10 subfamily K member 2
Synonyms Olfr370, GA_x6K02T2NUPS-11609807-11610751, MOR267-16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL02481
Quality Score
Status
Chromosome 8
Chromosomal Location 84267722-84268817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84268015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 81 (M81L)
Ref Sequence ENSEMBL: ENSMUSP00000149251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058609] [ENSMUST00000209408] [ENSMUST00000214156]
AlphaFold E9Q848
Predicted Effect possibly damaging
Transcript: ENSMUST00000058609
AA Change: M81L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055435
Gene: ENSMUSG00000047286
AA Change: M81L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-44 PFAM
Pfam:7tm_1 41 290 6.2e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209408
AA Change: M81L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214156
AA Change: M81L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Grin3a A G 4: 49,702,868 (GRCm39) Y873H probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Nnat T C 2: 157,403,167 (GRCm39) F36S possibly damaging Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging Het
Other mutations in Or10k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Or10k2 APN 8 84,268,247 (GRCm39) missense probably benign 0.00
IGL02499:Or10k2 APN 8 84,267,812 (GRCm39) missense possibly damaging 0.83
IGL02832:Or10k2 APN 8 84,268,100 (GRCm39) missense probably damaging 1.00
R0315:Or10k2 UTSW 8 84,268,001 (GRCm39) missense possibly damaging 0.90
R0330:Or10k2 UTSW 8 84,268,142 (GRCm39) missense probably damaging 1.00
R1737:Or10k2 UTSW 8 84,268,045 (GRCm39) missense probably benign 0.05
R1973:Or10k2 UTSW 8 84,268,421 (GRCm39) missense probably benign 0.00
R2157:Or10k2 UTSW 8 84,268,250 (GRCm39) missense probably benign 0.00
R4687:Or10k2 UTSW 8 84,268,489 (GRCm39) missense probably damaging 1.00
R5639:Or10k2 UTSW 8 84,267,973 (GRCm39) missense probably damaging 1.00
R6150:Or10k2 UTSW 8 84,267,782 (GRCm39) missense probably benign 0.02
R6590:Or10k2 UTSW 8 84,267,904 (GRCm39) missense probably benign 0.08
R6682:Or10k2 UTSW 8 84,268,187 (GRCm39) missense probably benign 0.00
R6690:Or10k2 UTSW 8 84,267,904 (GRCm39) missense probably benign 0.08
R7846:Or10k2 UTSW 8 84,268,526 (GRCm39) missense probably damaging 1.00
R7886:Or10k2 UTSW 8 84,268,576 (GRCm39) missense possibly damaging 0.95
R8349:Or10k2 UTSW 8 84,268,301 (GRCm39) missense probably damaging 1.00
R8361:Or10k2 UTSW 8 84,268,715 (GRCm39) missense possibly damaging 0.86
R8449:Or10k2 UTSW 8 84,268,301 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16