Incidental Mutation 'R2314:Or51k1'
ID 245409
Institutional Source Beutler Lab
Gene Symbol Or51k1
Ensembl Gene ENSMUSG00000066263
Gene Name olfactory receptor family 51 subfamily K member 1
Synonyms GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R2314 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103660957-103661907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103661436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 158 (M158L)
Ref Sequence ENSEMBL: ENSMUSP00000149743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]
AlphaFold Q8VGY8
Predicted Effect probably benign
Transcript: ENSMUST00000106862
AA Change: M158L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: M158L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 173 3.6e-9 PFAM
Pfam:7tm_1 43 294 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215653
AA Change: M158L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,322 (GRCm39) S39P probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anxa6 T A 11: 54,902,561 (GRCm39) I58F probably damaging Het
Ccdc30 T A 4: 119,181,763 (GRCm39) K582* probably null Het
Cebpz A G 17: 79,227,976 (GRCm39) probably null Het
Clstn3 T A 6: 124,427,676 (GRCm39) D473V probably benign Het
Cry1 A T 10: 84,969,175 (GRCm39) C550S probably benign Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dolk G T 2: 30,175,497 (GRCm39) L183M probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Drd4 T C 7: 140,873,854 (GRCm39) Y140H probably damaging Het
Duox1 C A 2: 122,164,211 (GRCm39) C890* probably null Het
Epha2 T A 4: 141,046,325 (GRCm39) V508E probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Fgfr1 C T 8: 26,060,909 (GRCm39) S527F probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Gm21834 A T 17: 58,049,210 (GRCm39) V2E possibly damaging Het
Gm7853 A T 14: 35,811,621 (GRCm39) noncoding transcript Het
Igf2r T A 17: 12,934,830 (GRCm39) H713L probably benign Het
Iqgap3 T C 3: 88,023,338 (GRCm39) V543A probably benign Het
Kcnq5 T A 1: 21,549,595 (GRCm39) probably null Het
Lsm1 C T 8: 26,275,712 (GRCm39) P5S possibly damaging Het
Marchf1 T C 8: 66,574,442 (GRCm39) M1T probably null Het
Myocd T C 11: 65,091,633 (GRCm39) H103R probably damaging Het
Myom2 C T 8: 15,113,927 (GRCm39) T25I probably damaging Het
Nck1 T C 9: 100,380,003 (GRCm39) K83E probably damaging Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Onecut2 G T 18: 64,474,268 (GRCm39) R254L probably damaging Het
Plxna1 A C 6: 89,301,298 (GRCm39) L1534R probably damaging Het
Polb C A 8: 23,130,018 (GRCm39) A185S possibly damaging Het
Pou3f3 T C 1: 42,737,651 (GRCm39) V449A probably damaging Het
Pskh1 C T 8: 106,640,145 (GRCm39) T275I probably damaging Het
Rab18 C A 18: 6,788,516 (GRCm39) A161D probably damaging Het
Rrp8 T C 7: 105,384,011 (GRCm39) R164G probably benign Het
Sacs T A 14: 61,445,208 (GRCm39) I2418K probably benign Het
Scrn1 T C 6: 54,502,631 (GRCm39) E136G probably benign Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slitrk6 C T 14: 110,989,387 (GRCm39) A107T probably damaging Het
Spata31e2 T C 1: 26,723,783 (GRCm39) S466G probably benign Het
Tktl2 T A 8: 66,965,795 (GRCm39) F451Y probably damaging Het
Tnks1bp1 G A 2: 84,889,259 (GRCm39) V529M probably benign Het
Trps1 T C 15: 50,524,742 (GRCm39) K874E probably damaging Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Ttn A G 2: 76,596,368 (GRCm39) Y20182H probably damaging Het
Ufc1 A T 1: 171,116,821 (GRCm39) C116S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp809 A G 9: 22,149,976 (GRCm39) K158E possibly damaging Het
Zfp81 A G 17: 33,553,597 (GRCm39) Y406H probably damaging Het
Other mutations in Or51k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Or51k1 APN 7 103,661,321 (GRCm39) missense probably damaging 1.00
IGL01547:Or51k1 APN 7 103,661,867 (GRCm39) missense probably benign 0.43
IGL02173:Or51k1 APN 7 103,661,037 (GRCm39) missense probably damaging 1.00
IGL02707:Or51k1 APN 7 103,661,609 (GRCm39) missense probably damaging 1.00
IGL03124:Or51k1 APN 7 103,661,001 (GRCm39) missense probably benign
R0004:Or51k1 UTSW 7 103,661,638 (GRCm39) missense probably benign 0.02
R0086:Or51k1 UTSW 7 103,661,261 (GRCm39) missense probably benign 0.23
R0370:Or51k1 UTSW 7 103,661,266 (GRCm39) missense probably damaging 0.99
R0599:Or51k1 UTSW 7 103,661,395 (GRCm39) nonsense probably null
R1351:Or51k1 UTSW 7 103,661,523 (GRCm39) missense possibly damaging 0.81
R1604:Or51k1 UTSW 7 103,661,162 (GRCm39) missense probably damaging 1.00
R2656:Or51k1 UTSW 7 103,661,072 (GRCm39) missense probably damaging 0.96
R4594:Or51k1 UTSW 7 103,661,624 (GRCm39) missense probably benign 0.01
R4774:Or51k1 UTSW 7 103,661,795 (GRCm39) missense probably benign 0.00
R4945:Or51k1 UTSW 7 103,661,585 (GRCm39) missense possibly damaging 0.85
R4968:Or51k1 UTSW 7 103,661,777 (GRCm39) missense probably damaging 1.00
R4981:Or51k1 UTSW 7 103,661,312 (GRCm39) missense probably damaging 0.97
R5072:Or51k1 UTSW 7 103,661,325 (GRCm39) missense probably damaging 0.97
R5982:Or51k1 UTSW 7 103,661,117 (GRCm39) missense probably damaging 1.00
R6303:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6304:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6332:Or51k1 UTSW 7 103,660,980 (GRCm39) missense probably benign 0.00
R7107:Or51k1 UTSW 7 103,661,489 (GRCm39) missense probably benign 0.16
R7152:Or51k1 UTSW 7 103,661,226 (GRCm39) missense probably benign
R7456:Or51k1 UTSW 7 103,661,045 (GRCm39) missense possibly damaging 0.83
R7849:Or51k1 UTSW 7 103,661,510 (GRCm39) missense possibly damaging 0.56
R8023:Or51k1 UTSW 7 103,661,006 (GRCm39) missense probably damaging 0.97
R8082:Or51k1 UTSW 7 103,661,897 (GRCm39) missense probably benign 0.04
R8215:Or51k1 UTSW 7 103,661,330 (GRCm39) missense possibly damaging 0.85
R8428:Or51k1 UTSW 7 103,661,632 (GRCm39) nonsense probably null
R8985:Or51k1 UTSW 7 103,661,367 (GRCm39) missense probably damaging 1.00
R9261:Or51k1 UTSW 7 103,661,336 (GRCm39) missense probably damaging 1.00
Z1177:Or51k1 UTSW 7 103,661,357 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAGTCCAGCCCAAAAGTG -3'
(R):5'- ACACTGCCCACTGTTATGG -3'

Sequencing Primer
(F):5'- GCCCAAAAGTGGCCAGGAC -3'
(R):5'- GCCTACAGAATTGACTTTGATGGC -3'
Posted On 2014-10-30