Incidental Mutation 'IGL01651:Or6k4'
ID 102824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6k4
Ensembl Gene ENSMUSG00000051528
Gene Name olfactory receptor family 6 subfamily K member 4
Synonyms MOR105-2, GA_x6K02T2P20D-21025190-21024243, Olfr424
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL01651
Quality Score
Chromosome 1
Chromosomal Location 173964312-173965259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173964907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 199 (D199V)
Ref Sequence ENSEMBL: ENSMUSP00000150840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053941] [ENSMUST00000214751]
AlphaFold E9Q0Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000053941
AA Change: D199V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054305
Gene: ENSMUSG00000051528
AA Change: D199V

Pfam:7tm_4 31 307 6.1e-63 PFAM
Pfam:7tm_1 41 289 1.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192471
Predicted Effect probably damaging
Transcript: ENSMUST00000214751
AA Change: D199V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218625
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T C 2: 181,136,531 (GRCm39) probably benign Het
Alms1 T A 6: 85,633,458 (GRCm39) V2980E probably benign Het
Anxa7 A G 14: 20,506,569 (GRCm39) L457P probably damaging Het
Asic2 T C 11: 80,784,856 (GRCm39) D310G probably damaging Het
Btbd9 T C 17: 30,439,391 (GRCm39) S599G unknown Het
Col25a1 G A 3: 130,360,134 (GRCm39) M487I probably benign Het
Ddx42 T A 11: 106,138,855 (GRCm39) F885I probably benign Het
Foxi3 T C 6: 70,933,975 (GRCm39) V154A probably damaging Het
Golga3 A C 5: 110,340,771 (GRCm39) probably null Het
Igdcc4 T C 9: 65,031,394 (GRCm39) V491A possibly damaging Het
Kcnh7 T A 2: 62,564,628 (GRCm39) D877V possibly damaging Het
Kcnu1 A G 8: 26,351,123 (GRCm39) D162G probably damaging Het
Morc2a T C 11: 3,608,727 (GRCm39) probably null Het
Ndufv2 T C 17: 66,396,466 (GRCm39) N47S possibly damaging Het
Npepl1 T A 2: 173,956,181 (GRCm39) probably benign Het
Otud7b C T 3: 96,060,807 (GRCm39) Q441* probably null Het
Pard3b A C 1: 62,518,963 (GRCm39) probably benign Het
Pfkfb3 T C 2: 11,494,495 (GRCm39) E143G probably damaging Het
Pphln1 C A 15: 93,386,864 (GRCm39) Q321K probably damaging Het
Rnf121 A G 7: 101,691,862 (GRCm39) S2P probably damaging Het
Slc25a42 G A 8: 70,639,250 (GRCm39) R276C possibly damaging Het
Smgc T C 15: 91,743,986 (GRCm39) probably benign Het
Tdrd5 C T 1: 156,129,397 (GRCm39) M104I probably benign Het
Vmn2r26 T A 6: 124,027,632 (GRCm39) N457K probably benign Het
Zfp474 T C 18: 52,771,655 (GRCm39) S103P probably damaging Het
Zfp53 A G 17: 21,728,348 (GRCm39) N127S probably benign Het
Other mutations in Or6k4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Or6k4 APN 1 173,964,679 (GRCm39) missense possibly damaging 0.46
R0194:Or6k4 UTSW 1 173,964,327 (GRCm39) missense probably benign 0.04
R0357:Or6k4 UTSW 1 173,964,865 (GRCm39) nonsense probably null
R0732:Or6k4 UTSW 1 173,964,981 (GRCm39) missense possibly damaging 0.85
R1103:Or6k4 UTSW 1 173,964,457 (GRCm39) missense probably benign 0.07
R1623:Or6k4 UTSW 1 173,964,883 (GRCm39) missense probably damaging 0.98
R1829:Or6k4 UTSW 1 173,964,760 (GRCm39) missense probably benign 0.12
R6617:Or6k4 UTSW 1 173,964,814 (GRCm39) missense probably damaging 1.00
R7060:Or6k4 UTSW 1 173,964,376 (GRCm39) missense probably benign 0.00
R7203:Or6k4 UTSW 1 173,964,680 (GRCm39) nonsense probably null
R7625:Or6k4 UTSW 1 173,964,733 (GRCm39) missense probably benign 0.13
R7994:Or6k4 UTSW 1 173,964,273 (GRCm39) start gained probably benign
R8035:Or6k4 UTSW 1 173,964,490 (GRCm39) missense probably damaging 1.00
R8127:Or6k4 UTSW 1 173,965,155 (GRCm39) missense probably damaging 1.00
R8802:Or6k4 UTSW 1 173,964,616 (GRCm39) missense probably damaging 1.00
R9102:Or6k4 UTSW 1 173,964,322 (GRCm39) missense
R9296:Or6k4 UTSW 1 173,964,835 (GRCm39) missense probably benign 0.02
R9374:Or6k4 UTSW 1 173,964,885 (GRCm39) missense probably benign 0.34
R9551:Or6k4 UTSW 1 173,964,885 (GRCm39) missense probably benign 0.34
R9552:Or6k4 UTSW 1 173,964,885 (GRCm39) missense probably benign 0.34
Posted On 2014-01-21