Incidental Mutation 'R6700:Or51k2'
ID 528214
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 044818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103595775-103596713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103596531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 253 (V253M)
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: V253M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: V253M

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: V253M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R 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
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
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'- ATCTAATCCAACTTCCCTGTGG -3'
(R):5'- CCTCTAATTGGTGGGCTAGAGTC -3'

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