Incidental Mutation 'R8189:Or5k1b'
ID 635043
Institutional Source Beutler Lab
Gene Symbol Or5k1b
Ensembl Gene ENSMUSG00000071510
Gene Name olfactory receptor family 5 subfamily K member 1B
Synonyms GA_x54KRFPKG5P-54930346-54929417, MOR184-2, Olfr172
MMRRC Submission 067612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8189 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 58580515-58581603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58581288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 84 (N84Y)
Ref Sequence ENSEMBL: ENSMUSP00000093690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095991]
AlphaFold E9Q8F6
Predicted Effect probably damaging
Transcript: ENSMUST00000095991
AA Change: N84Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093690
Gene: ENSMUSG00000071510
AA Change: N84Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.9e-52 PFAM
Pfam:7tm_1 41 290 3e-19 PFAM
Meta Mutation Damage Score 0.4866 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,324,885 (GRCm39) I1531T probably damaging Het
Ankrd13d G A 19: 4,320,880 (GRCm39) P516S probably benign Het
Bag6 A G 17: 35,364,214 (GRCm39) probably null Het
Cchcr1 A G 17: 35,837,563 (GRCm39) I422V probably benign Het
Ceacam1 A G 7: 25,173,343 (GRCm39) S282P probably damaging Het
Chka G T 19: 3,925,759 (GRCm39) E159* probably null Het
Ckmt2 T C 13: 92,003,894 (GRCm39) Y368C probably damaging Het
Cngb1 TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG TTCTGGCTCTGGCTCTGGCTCTGG 8: 96,030,248 (GRCm39) probably benign Het
Ctsq A G 13: 61,184,969 (GRCm39) L239P probably damaging Het
D630045J12Rik A G 6: 38,135,106 (GRCm39) L1358P probably damaging Het
Dglucy G A 12: 100,804,889 (GRCm39) E127K probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Fgd6 T C 10: 93,910,077 (GRCm39) L794P probably benign Het
Fgfr2 G A 7: 129,774,629 (GRCm39) T654I probably damaging Het
Gmeb2 G A 2: 180,919,760 (GRCm39) T38M probably damaging Het
Gria1 T C 11: 57,108,625 (GRCm39) F243L probably benign Het
Gria2 A T 3: 80,629,489 (GRCm39) D244E probably damaging Het
Ints2 T A 11: 86,106,396 (GRCm39) I1005F probably damaging Het
Ipo11 T A 13: 107,061,604 (GRCm39) S19C probably damaging Het
Kmt2b A G 7: 30,268,756 (GRCm39) F2658L probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mcf2l A G 8: 13,013,164 (GRCm39) D27G probably damaging Het
Mrgprb2 G T 7: 48,202,502 (GRCm39) Y74* probably null Het
Mtrex T A 13: 113,028,515 (GRCm39) R628S possibly damaging Het
Nrcam C A 12: 44,617,291 (GRCm39) P740T possibly damaging Het
Nrxn1 C T 17: 91,011,637 (GRCm39) V331I probably damaging Het
Or2a57 T C 6: 43,213,013 (GRCm39) V157A probably benign Het
Or4f17-ps1 T C 2: 111,358,118 (GRCm39) V153A Het
Or5p52 A G 7: 107,501,939 (GRCm39) N5S probably damaging Het
Or6c66b T A 10: 129,377,122 (GRCm39) C239S probably damaging Het
Pla2g4a A G 1: 149,733,337 (GRCm39) F479L probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Scaper A T 9: 55,819,404 (GRCm39) F104I probably damaging Het
Serpinb3c A T 1: 107,204,039 (GRCm39) C58S probably benign Het
Setdb1 A G 3: 95,254,022 (GRCm39) V260A probably damaging Het
Shank3 A G 15: 89,433,439 (GRCm39) T1395A probably benign Het
Slc35b4 A G 6: 34,144,570 (GRCm39) I95T probably damaging Het
Trpm5 A G 7: 142,635,575 (GRCm39) V599A probably benign Het
Ttk A G 9: 83,729,272 (GRCm39) S352G probably benign Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Usp17le C T 7: 104,418,555 (GRCm39) D196N probably damaging Het
Vmn2r15 A G 5: 109,434,713 (GRCm39) F664L probably benign Het
Vmn2r94 A T 17: 18,478,618 (GRCm39) L43Q probably damaging Het
Other mutations in Or5k1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Or5k1b APN 16 58,581,511 (GRCm39) missense probably benign 0.01
R1210:Or5k1b UTSW 16 58,581,413 (GRCm39) missense probably damaging 1.00
R1521:Or5k1b UTSW 16 58,581,216 (GRCm39) missense probably damaging 1.00
R1710:Or5k1b UTSW 16 58,581,504 (GRCm39) missense probably benign 0.02
R4730:Or5k1b UTSW 16 58,581,105 (GRCm39) missense probably benign 0.00
R4784:Or5k1b UTSW 16 58,580,911 (GRCm39) missense probably damaging 1.00
R4924:Or5k1b UTSW 16 58,580,982 (GRCm39) nonsense probably null
R5213:Or5k1b UTSW 16 58,580,984 (GRCm39) missense probably damaging 1.00
R5967:Or5k1b UTSW 16 58,580,725 (GRCm39) missense probably damaging 1.00
R7022:Or5k1b UTSW 16 58,581,482 (GRCm39) missense probably benign 0.00
R7259:Or5k1b UTSW 16 58,580,868 (GRCm39) missense possibly damaging 0.92
R7745:Or5k1b UTSW 16 58,580,782 (GRCm39) nonsense probably null
R7983:Or5k1b UTSW 16 58,581,377 (GRCm39) missense probably benign 0.37
R8123:Or5k1b UTSW 16 58,581,537 (GRCm39) start codon destroyed possibly damaging 0.91
R9245:Or5k1b UTSW 16 58,581,126 (GRCm39) nonsense probably null
R9464:Or5k1b UTSW 16 58,581,202 (GRCm39) nonsense probably null
R9686:Or5k1b UTSW 16 58,581,126 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TATGAAGGCTCCCGTGATCATC -3'
(R):5'- TTTACAAACCACCCTGAAATGAAGG -3'

Sequencing Primer
(F):5'- AAGGCTCCCGTGATCATCTGAAG -3'
(R):5'- CCTGAAATGAAGGGCCTTCTATTTGC -3'
Posted On 2020-07-13