Incidental Mutation 'IGL02630:Or8k22'
ID 301269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k22
Ensembl Gene ENSMUSG00000075190
Gene Name olfactory receptor family 8 subfamily K member 22
Synonyms Olfr1054, GA_x6K02T2Q125-47811880-47810942, MOR188-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02630
Quality Score
Status
Chromosome 2
Chromosomal Location 86162760-86163698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86163212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 163 (I163V)
Ref Sequence ENSEMBL: ENSMUSP00000150810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]
AlphaFold Q8VGS7
Predicted Effect probably benign
Transcript: ENSMUST00000099895
AA Change: I163V

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: I163V

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.8e-49 PFAM
Pfam:7tm_1 41 289 5.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122018
Predicted Effect probably benign
Transcript: ENSMUST00000213205
AA Change: I163V

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Or8k22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Or8k22 APN 2 86,163,048 (GRCm39) nonsense probably null
IGL02266:Or8k22 APN 2 86,163,323 (GRCm39) missense probably damaging 0.98
IGL02398:Or8k22 APN 2 86,162,868 (GRCm39) nonsense probably null
IGL02535:Or8k22 APN 2 86,163,019 (GRCm39) missense probably damaging 1.00
IGL02590:Or8k22 APN 2 86,163,344 (GRCm39) missense possibly damaging 0.52
PIT4151001:Or8k22 UTSW 2 86,163,173 (GRCm39) missense possibly damaging 0.60
R0520:Or8k22 UTSW 2 86,163,475 (GRCm39) missense probably damaging 1.00
R1079:Or8k22 UTSW 2 86,163,185 (GRCm39) missense probably damaging 0.96
R1887:Or8k22 UTSW 2 86,163,617 (GRCm39) missense possibly damaging 0.90
R2037:Or8k22 UTSW 2 86,162,774 (GRCm39) missense probably benign 0.03
R2120:Or8k22 UTSW 2 86,163,689 (GRCm39) missense probably benign 0.00
R2153:Or8k22 UTSW 2 86,162,872 (GRCm39) missense probably damaging 1.00
R4523:Or8k22 UTSW 2 86,163,644 (GRCm39) missense probably benign 0.12
R4836:Or8k22 UTSW 2 86,163,571 (GRCm39) missense probably benign 0.12
R6147:Or8k22 UTSW 2 86,162,844 (GRCm39) missense probably damaging 1.00
R6802:Or8k22 UTSW 2 86,163,529 (GRCm39) missense possibly damaging 0.91
R6886:Or8k22 UTSW 2 86,163,408 (GRCm39) nonsense probably null
R6894:Or8k22 UTSW 2 86,163,295 (GRCm39) missense probably damaging 1.00
R7275:Or8k22 UTSW 2 86,163,136 (GRCm39) missense possibly damaging 0.91
R7322:Or8k22 UTSW 2 86,162,908 (GRCm39) missense probably benign 0.14
R7325:Or8k22 UTSW 2 86,163,344 (GRCm39) missense possibly damaging 0.52
R7526:Or8k22 UTSW 2 86,163,697 (GRCm39) start codon destroyed probably null 1.00
R7976:Or8k22 UTSW 2 86,163,064 (GRCm39) missense probably benign 0.05
R8421:Or8k22 UTSW 2 86,163,247 (GRCm39) missense possibly damaging 0.80
R8838:Or8k22 UTSW 2 86,163,317 (GRCm39) missense possibly damaging 0.61
R9297:Or8k22 UTSW 2 86,163,188 (GRCm39) missense probably benign 0.01
Z1176:Or8k22 UTSW 2 86,163,050 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16