Incidental Mutation 'R8330:Or51k2'
ID 644305
Institutional Source Beutler Lab
Gene Symbol Or51k2
Ensembl Gene ENSMUSG00000073937
Gene Name olfactory receptor family 51 subfamily K member 2
Synonyms MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633
MMRRC Submission 067799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8330 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103595775-103596713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 103596610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 279 (I279S)
Ref Sequence ENSEMBL: ENSMUSP00000149105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]
AlphaFold Q8VF02
Predicted Effect possibly damaging
Transcript: ENSMUST00000098188
AA Change: I279S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: I279S

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.3e-120 PFAM
Pfam:7TM_GPCR_Srsx 35 158 7e-10 PFAM
Pfam:7tm_1 41 292 2.5e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216006
AA Change: I279S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,381,750 (GRCm39) D1405V probably damaging Het
Acsl6 A G 11: 54,236,034 (GRCm39) I514V probably benign Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ahnak T C 19: 8,987,026 (GRCm39) V2770A possibly damaging Het
B4galt1 A G 4: 40,812,787 (GRCm39) V246A probably damaging Het
Cdr2l T C 11: 115,284,939 (GRCm39) V425A probably benign Het
Celsr1 T A 15: 85,816,501 (GRCm39) D1814V probably damaging Het
Exoc2 A G 13: 31,061,556 (GRCm39) V495A probably benign Het
Ifi47 A G 11: 48,986,637 (GRCm39) T135A possibly damaging Het
Klhl23 T C 2: 69,654,496 (GRCm39) V122A probably damaging Het
Klri2 T A 6: 129,710,694 (GRCm39) N142Y probably damaging Het
Kmt2c A T 5: 25,509,692 (GRCm39) F3161L probably null Het
Mgl2 A G 11: 70,026,785 (GRCm39) T144A probably benign Het
Mpp3 T C 11: 101,899,453 (GRCm39) E356G probably benign Het
Neb T G 2: 52,117,420 (GRCm39) T872P Het
Nek9 A G 12: 85,376,727 (GRCm39) M218T probably damaging Het
Or10a49 A T 7: 108,468,046 (GRCm39) L105H probably damaging Het
Or4f14 A G 2: 111,742,724 (GRCm39) F184L probably benign Het
Pabpc1l G A 2: 163,869,568 (GRCm39) G123R probably damaging Het
Parp3 T C 9: 106,352,069 (GRCm39) probably null Het
Pcdhga1 A T 18: 37,796,376 (GRCm39) Y460F probably benign Het
Pclo A G 5: 14,725,311 (GRCm39) T1390A unknown Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pex6 T C 17: 47,023,060 (GRCm39) L212P possibly damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Ppib T C 9: 65,968,755 (GRCm39) F48L probably damaging Het
Psme4 A G 11: 30,793,583 (GRCm39) E1228G probably benign Het
Ptpdc1 G T 13: 48,751,390 (GRCm39) H37N probably benign Het
Rab31 A T 17: 66,003,269 (GRCm39) I126N possibly damaging Het
Rsad2 A T 12: 26,506,405 (GRCm39) V5E probably benign Het
S1pr3 G A 13: 51,573,173 (GRCm39) S118N probably damaging Het
Sbsn T A 7: 30,451,366 (GRCm39) I127N possibly damaging Het
Scart2 C T 7: 139,876,231 (GRCm39) Q568* probably null Het
Selenoh G T 2: 84,500,691 (GRCm39) Q50K probably damaging Het
Simc1 GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA 13: 54,673,177 (GRCm39) probably benign Het
Stkld1 A T 2: 26,841,515 (GRCm39) I487L probably benign Het
Tep1 T A 14: 51,085,162 (GRCm39) I874F possibly damaging Het
Tmem43 T C 6: 91,455,746 (GRCm39) V119A possibly damaging Het
Vmn2r80 T A 10: 79,007,550 (GRCm39) W509R probably damaging Het
Xpr1 A C 1: 155,189,001 (GRCm39) Y290* probably null Het
Zfp160 T C 17: 21,246,313 (GRCm39) C288R probably damaging Het
Zfp955a C T 17: 33,463,087 (GRCm39) V15M probably damaging Het
Other mutations in Or51k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or51k2 APN 7 103,596,204 (GRCm39) missense probably benign 0.03
IGL01728:Or51k2 APN 7 103,595,959 (GRCm39) missense probably damaging 1.00
IGL02125:Or51k2 APN 7 103,596,279 (GRCm39) missense probably damaging 1.00
IGL02332:Or51k2 APN 7 103,596,127 (GRCm39) missense probably damaging 0.98
IGL03336:Or51k2 APN 7 103,596,616 (GRCm39) missense probably damaging 1.00
R0611:Or51k2 UTSW 7 103,596,400 (GRCm39) missense probably damaging 1.00
R1341:Or51k2 UTSW 7 103,596,589 (GRCm39) missense possibly damaging 0.95
R1971:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R2171:Or51k2 UTSW 7 103,595,992 (GRCm39) missense probably damaging 1.00
R4958:Or51k2 UTSW 7 103,595,808 (GRCm39) missense probably damaging 1.00
R6700:Or51k2 UTSW 7 103,596,531 (GRCm39) missense probably damaging 1.00
R7585:Or51k2 UTSW 7 103,596,607 (GRCm39) missense probably benign 0.01
R7640:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R8463:Or51k2 UTSW 7 103,595,834 (GRCm39) splice site probably null
R8489:Or51k2 UTSW 7 103,596,328 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGTACACGGTACTAAACATTACCTC -3'
(R):5'- ATGGCAATGCTTGTTCTCTACG -3'

Sequencing Primer
(F):5'- CGGTACTAAACATTACCTCTGGGG -3'
(R):5'- CTAGCATTGTAAACTAACAGCTCTC -3'
Posted On 2020-09-02