Incidental Mutation 'IGL02573:Or6k14'
ID 299080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6k14
Ensembl Gene ENSMUSG00000059371
Gene Name olfactory receptor family 6 subfamily K member 14
Synonyms Olfr427, MOR105-9, MOR105-7, Olfr426, MOR105-13_p, GA_x6K02T2P20D-21075927-21074980, GA_x6K02T2P20D-21063569-21062619, MOR105-8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL02573
Quality Score
Status
Chromosome 1
Chromosomal Location 173927026-173927974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 173927696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 224 (V224D)
Ref Sequence ENSEMBL: ENSMUSP00000149570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080831] [ENSMUST00000213832]
AlphaFold E9Q7E7
Predicted Effect possibly damaging
Transcript: ENSMUST00000080831
AA Change: V224D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079644
Gene: ENSMUSG00000059371
AA Change: V224D

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-58 PFAM
Pfam:7tm_1 41 289 3.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201135
Predicted Effect possibly damaging
Transcript: ENSMUST00000213832
AA Change: V224D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 98,926,171 (GRCm39) W434R probably damaging Het
Atp7b T C 8: 22,512,486 (GRCm39) Q344R probably benign Het
B4galt5 C T 2: 167,146,982 (GRCm39) R284Q probably benign Het
Ccdc80 T G 16: 44,915,952 (GRCm39) V236G probably damaging Het
Chd8 T C 14: 52,457,191 (GRCm39) I926V possibly damaging Het
Dgkz A C 2: 91,764,542 (GRCm39) S1030R probably damaging Het
Disp3 T A 4: 148,355,906 (GRCm39) D318V probably damaging Het
Dnaaf10 T C 11: 17,162,136 (GRCm39) L58P possibly damaging Het
Ehd1 T C 19: 6,344,330 (GRCm39) S197P probably damaging Het
Emp1 A G 6: 135,356,945 (GRCm39) K42R probably benign Het
Garin4 G A 1: 190,896,067 (GRCm39) T192I probably damaging Het
Gm4922 T A 10: 18,659,423 (GRCm39) D433V probably benign Het
Gsdma T C 11: 98,561,577 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,852 (GRCm39) A208E probably damaging Het
Il5ra A T 6: 106,693,712 (GRCm39) V342E possibly damaging Het
Kif13b T C 14: 65,040,880 (GRCm39) F1660S probably damaging Het
Lvrn A G 18: 47,010,016 (GRCm39) E388G probably damaging Het
Mettl17 G A 14: 52,125,504 (GRCm39) probably null Het
Mgat5b T C 11: 116,868,540 (GRCm39) Y488H probably benign Het
Mtr A T 13: 12,214,013 (GRCm39) D886E possibly damaging Het
Naip6 A T 13: 100,435,979 (GRCm39) L848* probably null Het
Nav3 A G 10: 109,702,835 (GRCm39) S233P probably benign Het
Nme9 A T 9: 99,352,908 (GRCm39) D286V probably benign Het
Nod1 C A 6: 54,920,930 (GRCm39) A463S probably benign Het
Nthl1 A G 17: 24,852,949 (GRCm39) K51R probably benign Het
Or1n2 A G 2: 36,797,566 (GRCm39) I203V probably damaging Het
Pcnx2 G A 8: 126,582,012 (GRCm39) A908V probably benign Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Pde10a A C 17: 9,180,722 (GRCm39) I719L probably benign Het
Pikfyve T A 1: 65,270,014 (GRCm39) probably null Het
Plekha5 G T 6: 140,527,742 (GRCm39) A396S probably damaging Het
Ppfia2 A G 10: 106,664,789 (GRCm39) T342A probably damaging Het
Rbck1 A G 2: 152,164,087 (GRCm39) I339T possibly damaging Het
Rbms2 A T 10: 127,979,309 (GRCm39) I140N probably damaging Het
Scn1b A T 7: 30,822,546 (GRCm39) L78Q possibly damaging Het
Slc12a6 T C 2: 112,188,986 (GRCm39) probably null Het
Slc25a30 A T 14: 76,007,108 (GRCm39) probably benign Het
Slc30a7 C T 3: 115,783,796 (GRCm39) probably benign Het
Slc5a10 C A 11: 61,563,898 (GRCm39) R546L possibly damaging Het
Stxbp4 T C 11: 90,431,095 (GRCm39) D405G probably damaging Het
Tm4sf19 A C 16: 32,226,678 (GRCm39) T156P possibly damaging Het
Tmem37 A T 1: 119,995,719 (GRCm39) D119E probably damaging Het
Tor1aip1 T A 1: 155,889,117 (GRCm39) N113I probably damaging Het
Ubac2 T A 14: 122,144,802 (GRCm39) Y87N possibly damaging Het
Usp29 A T 7: 6,965,617 (GRCm39) probably null Het
Zfp276 A G 8: 123,991,736 (GRCm39) E428G probably damaging Het
Other mutations in Or6k14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Or6k14 APN 1 173,927,933 (GRCm39) missense probably benign
IGL01804:Or6k14 APN 1 173,927,401 (GRCm39) missense probably damaging 1.00
IGL02736:Or6k14 APN 1 173,927,213 (GRCm39) missense probably damaging 0.99
R0012:Or6k14 UTSW 1 173,927,773 (GRCm39) missense probably damaging 1.00
R0437:Or6k14 UTSW 1 173,927,965 (GRCm39) missense probably benign 0.04
R0688:Or6k14 UTSW 1 173,927,630 (GRCm39) missense probably damaging 1.00
R1473:Or6k14 UTSW 1 173,927,315 (GRCm39) missense probably damaging 1.00
R1754:Or6k14 UTSW 1 173,927,599 (GRCm39) missense probably benign 0.24
R5453:Or6k14 UTSW 1 173,927,033 (GRCm39) missense probably benign
R5776:Or6k14 UTSW 1 173,927,339 (GRCm39) missense probably damaging 1.00
R6700:Or6k14 UTSW 1 173,927,405 (GRCm39) missense probably damaging 1.00
R7472:Or6k14 UTSW 1 173,927,299 (GRCm39) missense probably damaging 1.00
R7683:Or6k14 UTSW 1 173,927,042 (GRCm39) missense probably benign 0.01
R8132:Or6k14 UTSW 1 173,927,737 (GRCm39) missense probably damaging 1.00
R8853:Or6k14 UTSW 1 173,927,861 (GRCm39) missense probably damaging 0.99
R9523:Or6k14 UTSW 1 173,927,608 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16