Incidental Mutation 'R5982:Or51k1'
ID 481455
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
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5982 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103660957-103661907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 103661117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 264 (H264P)
Ref Sequence ENSEMBL: ENSMUSP00000149743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]
AlphaFold Q8VGY8
Predicted Effect probably damaging
Transcript: ENSMUST00000106862
AA Change: H264P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: H264P

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 damaging
Transcript: ENSMUST00000215653
AA Change: H264P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign 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
R2314:Or51k1 UTSW 7 103,661,436 (GRCm39) missense probably benign 0.09
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
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'- TCAAGAATAATCCCTGCTCTCTG -3'
(R):5'- GGTTGAATAGCATCCTGGGG -3'

Sequencing Primer
(F):5'- AGAATAATCCCTGCTCTCTGAGTGTG -3'
(R):5'- AATAGCATCCTGGGGTTGGCC -3'
Posted On 2017-06-26