Incidental Mutation 'R6714:Or4k5'
ID 529271
Institutional Source Beutler Lab
Gene Symbol Or4k5
Ensembl Gene ENSMUSG00000049011
Gene Name olfactory receptor family 4 subfamily K member 5
Synonyms MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729
MMRRC Submission 044832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6714 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 50385358-50386329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50385671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 220 (I220K)
Ref Sequence ENSEMBL: ENSMUSP00000149189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]
AlphaFold Q8VET4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061020
AA Change: I220K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: I220K

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 8.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 286 1.4e-5 PFAM
Pfam:7tm_1 41 287 2.4e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213163
AA Change: I220K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215327
AA Change: I220K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215451
AA Change: I220K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 A T 14: 44,741,639 (GRCm39) R127S possibly damaging Het
Bub1 C A 2: 127,656,652 (GRCm39) M463I probably benign Het
Cdh23 T C 10: 60,167,609 (GRCm39) I1794V possibly damaging Het
Clspn C T 4: 126,459,561 (GRCm39) T320M probably damaging Het
Coch A C 12: 51,649,520 (GRCm39) D277A probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnah7c A T 1: 46,779,966 (GRCm39) I3223F probably damaging Het
E2f6 G A 12: 16,869,003 (GRCm39) V109I probably damaging Het
Edem2 A T 2: 155,570,809 (GRCm39) probably null Het
Efcab8 A G 2: 153,631,130 (GRCm39) K187E probably damaging Het
Fam184a T C 10: 53,574,979 (GRCm39) N210S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,809,878 (GRCm39) I2066V probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gpc5 C T 14: 115,789,715 (GRCm39) Q530* probably null Het
Hmcn1 A T 1: 150,579,926 (GRCm39) I1937K probably damaging Het
Hpx G A 7: 105,244,302 (GRCm39) R269C probably damaging Het
Ice1 T C 13: 70,763,382 (GRCm39) probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,783,297 (GRCm39) T310A probably benign Het
Lrp4 G A 2: 91,306,710 (GRCm39) S341N possibly damaging Het
Map3k3 T C 11: 106,005,048 (GRCm39) V69A possibly damaging Het
Myh8 T C 11: 67,197,775 (GRCm39) Y1881H probably damaging Het
Nectin4 A T 1: 171,198,218 (GRCm39) probably benign Het
Nhsl1 G T 10: 18,400,459 (GRCm39) V562L possibly damaging Het
Or6c205 T A 10: 129,086,809 (GRCm39) N135K possibly damaging Het
Pcdhga7 T A 18: 37,850,330 (GRCm39) V779E probably benign Het
Peg12 T A 7: 62,113,317 (GRCm39) H260L unknown Het
Qrfpr A T 3: 36,234,405 (GRCm39) M312K possibly damaging Het
Rbl2 T A 8: 91,833,415 (GRCm39) I730N possibly damaging Het
Rbm39 G C 2: 156,003,538 (GRCm39) L281V possibly damaging Het
Setd1b A G 5: 123,295,654 (GRCm39) E1074G unknown Het
Sfr1 A G 19: 47,723,405 (GRCm39) D303G probably damaging Het
Slc7a12 T C 3: 14,546,380 (GRCm39) V175A probably benign Het
Slc8a1 A T 17: 81,715,678 (GRCm39) L785Q probably damaging Het
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spg11 T C 2: 121,926,212 (GRCm39) I694M probably damaging Het
Tasor2 A T 13: 3,644,189 (GRCm39) F143L probably benign Het
Trpc1 A T 9: 95,605,326 (GRCm39) L111Q probably damaging Het
Tti1 A G 2: 157,848,971 (GRCm39) V756A possibly damaging Het
Unc93a2 T G 17: 7,643,937 (GRCm39) E124A probably benign Het
Usp32 A T 11: 84,917,696 (GRCm39) I777N probably damaging Het
Zbtb8b C T 4: 129,326,776 (GRCm39) E97K probably damaging Het
Zfhx4 A G 3: 5,306,897 (GRCm39) D41G probably damaging Het
Zfp493 A T 13: 67,934,499 (GRCm39) S151C probably benign Het
Zfp503 T C 14: 22,035,825 (GRCm39) T364A probably benign Het
Zfp507 T C 7: 35,487,152 (GRCm39) K772R probably damaging Het
Zfp804b T A 5: 6,819,239 (GRCm39) M1275L probably benign Het
Zfp811 G A 17: 33,016,736 (GRCm39) H434Y probably damaging Het
Other mutations in Or4k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Or4k5 APN 14 50,386,173 (GRCm39) missense probably benign 0.38
IGL02736:Or4k5 APN 14 50,385,881 (GRCm39) missense probably benign 0.01
IGL02798:Or4k5 APN 14 50,385,835 (GRCm39) missense probably benign
IGL03267:Or4k5 APN 14 50,386,304 (GRCm39) missense probably damaging 1.00
R0082:Or4k5 UTSW 14 50,385,512 (GRCm39) missense probably damaging 0.97
R0225:Or4k5 UTSW 14 50,386,092 (GRCm39) missense probably damaging 1.00
R0503:Or4k5 UTSW 14 50,385,935 (GRCm39) missense probably damaging 1.00
R1022:Or4k5 UTSW 14 50,385,384 (GRCm39) missense probably benign
R1024:Or4k5 UTSW 14 50,385,384 (GRCm39) missense probably benign
R1424:Or4k5 UTSW 14 50,385,922 (GRCm39) missense possibly damaging 0.83
R1440:Or4k5 UTSW 14 50,385,815 (GRCm39) missense probably damaging 1.00
R1479:Or4k5 UTSW 14 50,386,245 (GRCm39) missense probably benign 0.00
R1583:Or4k5 UTSW 14 50,386,231 (GRCm39) missense probably benign 0.00
R1817:Or4k5 UTSW 14 50,385,728 (GRCm39) missense probably benign 0.00
R2155:Or4k5 UTSW 14 50,386,154 (GRCm39) missense probably damaging 1.00
R2282:Or4k5 UTSW 14 50,385,776 (GRCm39) missense probably benign
R2926:Or4k5 UTSW 14 50,385,893 (GRCm39) missense probably benign 0.19
R3790:Or4k5 UTSW 14 50,386,026 (GRCm39) missense possibly damaging 0.51
R4073:Or4k5 UTSW 14 50,385,500 (GRCm39) missense possibly damaging 0.55
R5945:Or4k5 UTSW 14 50,386,220 (GRCm39) missense probably benign
R7112:Or4k5 UTSW 14 50,385,392 (GRCm39) missense probably benign 0.00
R7157:Or4k5 UTSW 14 50,385,689 (GRCm39) missense probably damaging 1.00
R7511:Or4k5 UTSW 14 50,385,713 (GRCm39) missense probably damaging 1.00
R7815:Or4k5 UTSW 14 50,386,253 (GRCm39) missense probably benign 0.36
R8833:Or4k5 UTSW 14 50,385,823 (GRCm39) nonsense probably null
R9486:Or4k5 UTSW 14 50,385,672 (GRCm39) missense probably benign 0.21
R9608:Or4k5 UTSW 14 50,386,055 (GRCm39) missense probably benign 0.35
Z1177:Or4k5 UTSW 14 50,386,308 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGCTACTTTGGGAGGTCTG -3'
(R):5'- TGGTACACACATTGAGCCAG -3'

Sequencing Primer
(F):5'- GAGCAGCAATTTTTCCCATGACAG -3'
(R):5'- GGTACACACATTGAGCCAGTTATC -3'
Posted On 2018-07-24