Incidental Mutation 'R5767:Or5k8'
ID 446349
Institutional Source Beutler Lab
Gene Symbol Or5k8
Ensembl Gene ENSMUSG00000060663
Gene Name olfactory receptor family 5 subfamily K member 8
Synonyms GA_x54KRFPKG5P-55026345-55025418, MOR184-10P, MOR184-1, GA_x54KRFPKG5P-54993816-54992890, Olfr175-ps1, Olfr175, Olfr174
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5767 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58644144-58647124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58644316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 252 (Y252C)
Ref Sequence ENSEMBL: ENSMUSP00000150202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079955] [ENSMUST00000215069]
AlphaFold A0A140T8K4
Predicted Effect probably benign
Transcript: ENSMUST00000079955
AA Change: Y252C

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078873
Gene: ENSMUSG00000060663
AA Change: Y252C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-52 PFAM
Pfam:7TM_GPCR_Srsx 35 305 6.8e-6 PFAM
Pfam:7tm_1 41 290 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215069
AA Change: Y252C

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gls2 A G 10: 128,041,090 (GRCm39) H394R probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Pmel T C 10: 128,550,250 (GRCm39) V95A probably damaging Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tmc3 G A 7: 83,249,190 (GRCm39) A260T probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Zc3h8 A T 2: 128,772,812 (GRCm39) C225* probably null Het
Other mutations in Or5k8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Or5k8 APN 16 58,644,958 (GRCm39) missense probably damaging 1.00
IGL01404:Or5k8 APN 16 58,644,958 (GRCm39) missense probably damaging 1.00
IGL01867:Or5k8 APN 16 58,644,337 (GRCm39) missense probably damaging 1.00
IGL02073:Or5k8 APN 16 58,644,169 (GRCm39) missense probably benign
IGL02393:Or5k8 APN 16 58,644,409 (GRCm39) missense probably damaging 0.99
IGL02474:Or5k8 APN 16 58,645,019 (GRCm39) missense probably benign
IGL02548:Or5k8 APN 16 58,644,691 (GRCm39) missense probably benign 0.42
IGL02948:Or5k8 APN 16 58,644,451 (GRCm39) missense probably benign 0.00
PIT4504001:Or5k8 UTSW 16 58,644,671 (GRCm39) missense probably benign 0.00
R0553:Or5k8 UTSW 16 58,644,518 (GRCm39) missense probably damaging 0.99
R1191:Or5k8 UTSW 16 58,644,922 (GRCm39) missense probably benign
R1201:Or5k8 UTSW 16 58,644,226 (GRCm39) missense probably damaging 0.98
R1458:Or5k8 UTSW 16 58,645,039 (GRCm39) missense probably null 0.68
R1469:Or5k8 UTSW 16 58,644,973 (GRCm39) missense probably benign
R1469:Or5k8 UTSW 16 58,644,973 (GRCm39) missense probably benign
R1843:Or5k8 UTSW 16 58,644,440 (GRCm39) missense probably damaging 0.99
R2147:Or5k8 UTSW 16 58,644,842 (GRCm39) missense probably damaging 0.99
R2421:Or5k8 UTSW 16 58,644,709 (GRCm39) missense probably damaging 1.00
R4370:Or5k8 UTSW 16 58,644,956 (GRCm39) missense probably benign 0.00
R4621:Or5k8 UTSW 16 58,644,469 (GRCm39) missense possibly damaging 0.94
R4622:Or5k8 UTSW 16 58,644,469 (GRCm39) missense possibly damaging 0.94
R4623:Or5k8 UTSW 16 58,644,469 (GRCm39) missense possibly damaging 0.94
R4711:Or5k8 UTSW 16 58,645,069 (GRCm39) start codon destroyed probably null 0.98
R5323:Or5k8 UTSW 16 58,645,066 (GRCm39) missense probably benign
R5447:Or5k8 UTSW 16 58,644,846 (GRCm39) nonsense probably null
R5457:Or5k8 UTSW 16 58,644,796 (GRCm39) missense probably damaging 0.97
R5546:Or5k8 UTSW 16 58,644,516 (GRCm39) nonsense probably null
R5623:Or5k8 UTSW 16 58,644,706 (GRCm39) missense probably benign 0.02
R6270:Or5k8 UTSW 16 58,644,782 (GRCm39) missense probably damaging 1.00
R6449:Or5k8 UTSW 16 58,644,889 (GRCm39) missense probably damaging 1.00
R7356:Or5k8 UTSW 16 58,644,718 (GRCm39) missense probably damaging 0.99
R7521:Or5k8 UTSW 16 58,644,257 (GRCm39) missense probably benign 0.00
R7638:Or5k8 UTSW 16 58,644,958 (GRCm39) missense probably damaging 1.00
R7814:Or5k8 UTSW 16 58,644,365 (GRCm39) missense probably damaging 0.98
R9109:Or5k8 UTSW 16 58,644,677 (GRCm39) missense probably damaging 1.00
R9276:Or5k8 UTSW 16 58,644,734 (GRCm39) missense probably benign 0.09
R9681:Or5k8 UTSW 16 58,644,176 (GRCm39) missense possibly damaging 0.90
X0011:Or5k8 UTSW 16 58,645,026 (GRCm39) missense probably benign
Z1176:Or5k8 UTSW 16 58,644,670 (GRCm39) frame shift probably null
Z1177:Or5k8 UTSW 16 58,645,061 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- CTAGTGGAAATAAATTGTCCAAGGG -3'
(R):5'- ACAGACTCTCATGTGTTGACC -3'

Sequencing Primer
(F):5'- CCAAGGGACAAGAGACTT -3'
(R):5'- GTGTTGACCCTTATATCAATGAACTG -3'
Posted On 2016-11-21