Incidental Mutation 'IGL01804:Or6k14'
ID 155596
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 # IGL01804
Quality Score
Status
Chromosome 1
Chromosomal Location 173927026-173927974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 173927401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 126 (I126V)
Ref Sequence ENSEMBL: ENSMUSP00000149570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080831] [ENSMUST00000213832]
AlphaFold E9Q7E7
Predicted Effect probably damaging
Transcript: ENSMUST00000080831
AA Change: I126V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079644
Gene: ENSMUSG00000059371
AA Change: I126V

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 probably damaging
Transcript: ENSMUST00000213832
AA Change: I126V

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cetn3 A T 13: 81,932,779 (GRCm39) K13* probably null Het
Cldn18 T A 9: 99,580,901 (GRCm39) K116* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Gbx2 T C 1: 89,856,703 (GRCm39) E229G probably benign Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Lig1 A G 7: 13,043,131 (GRCm39) K859E probably benign Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spns2 A T 11: 72,348,130 (GRCm39) I279N possibly damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging Het
Other mutations in Or6k14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Or6k14 APN 1 173,927,933 (GRCm39) missense probably benign
IGL02573:Or6k14 APN 1 173,927,696 (GRCm39) missense possibly damaging 0.94
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 2014-02-04