Incidental Mutation 'R2171:Or51k2'
ID 237485
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 040173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103595775-103596713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103595992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000149105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]
AlphaFold Q8VF02
Predicted Effect probably damaging
Transcript: ENSMUST00000098188
AA Change: V73A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: V73A

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 probably damaging
Transcript: ENSMUST00000216006
AA Change: V73A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly 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
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
R8330:Or51k2 UTSW 7 103,596,610 (GRCm39) missense possibly damaging 0.56
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'- TTCCCTGGTCTGGAAGCATG -3'
(R):5'- ATCCAAGTGTAAGACTGGTACC -3'

Sequencing Primer
(F):5'- AAGCATGGTACCCTTGGCTGATC -3'
(R):5'- TGGTACCAGCAATGCGG -3'
Posted On 2014-10-02