Incidental Mutation 'R7295:Or4k6'
ID 566694
Institutional Source Beutler Lab
Gene Symbol Or4k6
Ensembl Gene ENSMUSG00000048080
Gene Name olfactory receptor family 4 subfamily K member 6
Synonyms Olfr731, GA_x6K02T2PMLR-5936117-5935137, MOR246-5
MMRRC Submission 045363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7295 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 50475360-50476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50476073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 90 (K90E)
Ref Sequence ENSEMBL: ENSMUSP00000150683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059565] [ENSMUST00000214152] [ENSMUST00000214388]
AlphaFold F8VQB9
Predicted Effect probably damaging
Transcript: ENSMUST00000059565
AA Change: K90E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050705
Gene: ENSMUSG00000048080
AA Change: K90E

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 8.5e-51 PFAM
Pfam:7tm_1 41 287 5.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214152
AA Change: K90E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214388
AA Change: K90E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Acp7 A T 7: 28,328,955 (GRCm39) F75Y possibly damaging Het
Adamts19 T A 18: 58,970,955 (GRCm39) Y180N probably damaging Het
Adck1 G T 12: 88,397,815 (GRCm39) D150Y probably damaging Het
Alb T A 5: 90,610,693 (GRCm39) probably null Het
Baat A T 4: 49,490,275 (GRCm39) Y270N probably damaging Het
Bmp7 A T 2: 172,781,690 (GRCm39) I58N probably damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
Cbfa2t3 T G 8: 123,364,768 (GRCm39) D338A probably benign Het
Ccnd2 A T 6: 127,125,725 (GRCm39) C104S possibly damaging Het
Clip1 G T 5: 123,765,419 (GRCm39) Q713K probably benign Het
Ddx28 G A 8: 106,737,476 (GRCm39) S194L probably benign Het
Dync1h1 T C 12: 110,631,183 (GRCm39) probably null Het
Edil3 T A 13: 89,279,902 (GRCm39) Y193* probably null Het
Eprs1 A G 1: 185,150,407 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,967,589 (GRCm39) I63R probably damaging Het
Fam171a2 T C 11: 102,329,064 (GRCm39) E565G possibly damaging Het
Fbn1 T A 2: 125,177,407 (GRCm39) D1810V probably damaging Het
Foxj2 T C 6: 122,817,190 (GRCm39) S506P probably benign Het
Frmpd1 A G 4: 45,285,700 (GRCm39) E1507G probably damaging Het
Gfm1 G A 3: 67,347,514 (GRCm39) V258I probably benign Het
Gphn T C 12: 78,538,876 (GRCm39) V174A probably benign Het
Gtpbp3 C A 8: 71,942,139 (GRCm39) S123R possibly damaging Het
H2bc8 T C 13: 23,755,943 (GRCm39) S113P probably benign Het
Hbs1l T C 10: 21,186,051 (GRCm39) V491A probably benign Het
Hoxc12 A G 15: 102,846,810 (GRCm39) N234S probably damaging Het
Il22b A T 10: 118,130,848 (GRCm39) L16* probably null Het
Kcnj5 T C 9: 32,234,087 (GRCm39) D76G probably damaging Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Lonp1 G T 17: 56,929,495 (GRCm39) Q181K possibly damaging Het
Mgst1 A T 6: 138,124,754 (GRCm39) I23F probably benign Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Myocos T C 1: 162,484,687 (GRCm39) R41G unknown Het
Myod1 A G 7: 46,027,643 (GRCm39) D261G probably benign Het
Nop14 C T 5: 34,796,376 (GRCm39) R781Q probably damaging Het
Nsmaf A G 4: 6,438,083 (GRCm39) V63A probably benign Het
Ntsr1 A T 2: 180,142,725 (GRCm39) H172L probably damaging Het
Or8b1c A T 9: 38,384,739 (GRCm39) E232V probably benign Het
Pcdha11 T C 18: 37,139,979 (GRCm39) V536A probably damaging Het
Pcdha6 T A 18: 37,101,189 (GRCm39) N127K probably damaging Het
Prps1l1 T A 12: 35,035,679 (GRCm39) C265S probably benign Het
Prune2 A G 19: 17,097,261 (GRCm39) S922G probably benign Het
Qpctl A T 7: 18,883,055 (GRCm39) M19K probably benign Het
Rad51 C T 2: 118,964,599 (GRCm39) T230I possibly damaging Het
Rad9b A G 5: 122,472,341 (GRCm39) F246L possibly damaging Het
Rarb A T 14: 16,508,932 (GRCm38) probably null Het
Sdcbp2 T C 2: 151,429,321 (GRCm39) S214P possibly damaging Het
Slc22a1 T A 17: 12,875,892 (GRCm39) M441L probably benign Het
Slc35f1 G A 10: 52,938,637 (GRCm39) V190I probably benign Het
Spon1 A T 7: 113,629,475 (GRCm39) Q373L possibly damaging Het
Ssbp2 T A 13: 91,842,122 (GRCm39) probably null Het
Sult1e1 T A 5: 87,726,512 (GRCm39) R201* probably null Het
Traj32 T A 14: 54,423,606 (GRCm39) L16Q Het
Ttc16 T C 2: 32,664,437 (GRCm39) I67V probably null Het
Ttn T A 2: 76,556,899 (GRCm39) K30035N probably damaging Het
Ttn T A 2: 76,776,473 (GRCm39) Y1607F unknown Het
Usp16 G A 16: 87,268,977 (GRCm39) R290H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Xpnpep3 A G 15: 81,298,735 (GRCm39) H56R probably damaging Het
Zfp592 G T 7: 80,674,070 (GRCm39) D345Y probably damaging Het
Zfp931 A T 2: 177,709,824 (GRCm39) Y187* probably null Het
Other mutations in Or4k6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Or4k6 APN 14 50,475,595 (GRCm39) missense possibly damaging 0.87
IGL02304:Or4k6 APN 14 50,476,217 (GRCm39) missense probably damaging 1.00
IGL02395:Or4k6 APN 14 50,475,886 (GRCm39) missense probably damaging 1.00
IGL03079:Or4k6 APN 14 50,475,581 (GRCm39) missense possibly damaging 0.81
R0646:Or4k6 UTSW 14 50,476,096 (GRCm39) missense probably damaging 1.00
R1253:Or4k6 UTSW 14 50,475,581 (GRCm39) missense probably damaging 1.00
R2027:Or4k6 UTSW 14 50,475,406 (GRCm39) missense probably benign
R2364:Or4k6 UTSW 14 50,475,612 (GRCm39) missense probably damaging 1.00
R4714:Or4k6 UTSW 14 50,475,824 (GRCm39) missense possibly damaging 0.68
R4749:Or4k6 UTSW 14 50,476,190 (GRCm39) missense probably damaging 0.96
R5880:Or4k6 UTSW 14 50,476,172 (GRCm39) missense possibly damaging 0.95
R6954:Or4k6 UTSW 14 50,475,567 (GRCm39) nonsense probably null
R7419:Or4k6 UTSW 14 50,475,448 (GRCm39) missense possibly damaging 0.85
R7457:Or4k6 UTSW 14 50,475,825 (GRCm39) missense probably damaging 0.99
R8806:Or4k6 UTSW 14 50,475,376 (GRCm39) missense probably benign 0.09
R9350:Or4k6 UTSW 14 50,475,407 (GRCm39) missense probably benign
R9446:Or4k6 UTSW 14 50,475,974 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGTCCAAGATGCTATTACAAGTC -3'
(R):5'- GGACTCACTGATTCTCCTGAGC -3'

Sequencing Primer
(F):5'- AGTCCAACACACACTTTTTGG -3'
(R):5'- GACTCACTGATTCTCCTGAGCTTCAG -3'
Posted On 2019-06-26