Incidental Mutation 'R2091:Or4k51'
ID 323542
Institutional Source Beutler Lab
Gene Symbol Or4k51
Ensembl Gene ENSMUSG00000057149
Gene Name olfactory receptor family 4 subfamily K member 51
Synonyms Olfr1301, MOR248-5, GA_x6K02T2Q125-72805651-72806589
MMRRC Submission 040096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2091 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111584596-111585534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111584731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 46 (M46L)
Ref Sequence ENSEMBL: ENSMUSP00000146530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080094] [ENSMUST00000207590]
AlphaFold Q8VGE7
Predicted Effect probably benign
Transcript: ENSMUST00000080094
AA Change: M46L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: M46L

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.1e-53 PFAM
Pfam:7tm_1 41 287 2.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207590
AA Change: M46L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
AA986860 T C 1: 130,670,906 (GRCm39) L376P probably benign Het
Adamts10 T C 17: 33,770,166 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,493 (GRCm39) probably null Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Arfgap2 A G 2: 91,100,586 (GRCm39) K297R probably benign Het
Armh3 A T 19: 45,941,119 (GRCm39) L300Q probably damaging Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Atp2b4 C A 1: 133,642,968 (GRCm39) V1046F probably benign Het
Best1 A G 19: 9,969,443 (GRCm39) V205A probably benign Het
Bicdl1 A G 5: 115,862,638 (GRCm39) S206P probably damaging Het
Bltp1 T C 3: 37,008,119 (GRCm39) V1725A probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Cacna1h C T 17: 25,651,850 (GRCm39) C98Y possibly damaging Het
Calhm3 T A 19: 47,140,430 (GRCm39) D221V probably damaging Het
Ccdc93 T A 1: 121,411,071 (GRCm39) probably null Het
Cd248 A T 19: 5,120,074 (GRCm39) I641F possibly damaging Het
Chrnb3 C T 8: 27,884,262 (GRCm39) T333M probably damaging Het
Cyb5rl A G 4: 106,928,203 (GRCm39) H113R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddx59 T A 1: 136,344,447 (GRCm39) D39E probably benign Het
Defa5 A G 8: 21,787,513 (GRCm39) D20G probably damaging Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dlc1 A T 8: 37,404,763 (GRCm39) V342E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Dync1h1 A G 12: 110,616,022 (GRCm39) I3057V probably benign Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Fbp2 G T 13: 63,006,021 (GRCm39) L31I probably damaging Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gcfc2 A G 6: 81,920,460 (GRCm39) E415G probably damaging Het
Glp1r T C 17: 31,144,523 (GRCm39) L232P probably damaging Het
Gm10822 A G 2: 73,729,619 (GRCm39) noncoding transcript Het
Gm42669 G A 5: 107,655,776 (GRCm39) V1192M probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Gpt A G 15: 76,582,176 (GRCm39) E211G possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Kcne4 T C 1: 78,795,624 (GRCm39) S91P probably benign Het
Kif5b G A 18: 6,213,248 (GRCm39) Q715* probably null Het
Lamb1 T A 12: 31,337,428 (GRCm39) N386K probably damaging Het
Lcmt2 T C 2: 120,969,097 (GRCm39) N662S probably damaging Het
Lnx1 G T 5: 74,780,727 (GRCm39) H324N probably benign Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Mboat7 T C 7: 3,687,010 (GRCm39) probably benign Het
Mlip C T 9: 77,072,145 (GRCm39) V341I possibly damaging Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myo3a A T 2: 22,338,488 (GRCm39) H442L probably damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nbas G A 12: 13,411,046 (GRCm39) D897N probably benign Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nlrp4a T C 7: 26,149,578 (GRCm39) L395P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nsun6 A G 2: 15,044,542 (GRCm39) probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Or5aq7 T C 2: 86,938,606 (GRCm39) N42D probably damaging Het
Or5p70 A G 7: 107,995,068 (GRCm39) H247R probably damaging Het
Pate4 C A 9: 35,519,553 (GRCm39) A46S possibly damaging Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pdk4 A G 6: 5,494,857 (GRCm39) probably benign Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Plxdc2 A G 2: 16,718,494 (GRCm39) I379M probably damaging Het
Ppp1r35 A G 5: 137,778,156 (GRCm39) N217S possibly damaging Het
Prex1 G A 2: 166,411,285 (GRCm39) T1438I possibly damaging Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Sacs A T 14: 61,429,368 (GRCm39) I476L possibly damaging Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc10a4 G A 5: 73,174,482 (GRCm39) probably benign Het
Slc24a2 G T 4: 86,929,883 (GRCm39) P538T probably damaging Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Ssbp1 A G 6: 40,453,433 (GRCm39) Y73C probably null Het
St18 G A 1: 6,898,195 (GRCm39) V666M probably benign Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tcp11l1 T C 2: 104,514,484 (GRCm39) I428V possibly damaging Het
Th T A 7: 142,449,280 (GRCm39) D275V probably damaging Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trdv1 C A 14: 54,119,626 (GRCm39) Q96K probably benign Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Ttn C T 2: 76,565,355 (GRCm39) G26545R probably damaging Het
Ttn T C 2: 76,587,488 (GRCm39) D13208G probably damaging Het
Tubb3 A G 8: 124,148,417 (GRCm39) probably null Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Wrn T A 8: 33,757,853 (GRCm39) H812L probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly damaging Het
Zfp955a T A 17: 33,461,731 (GRCm39) K134* probably null Het
Other mutations in Or4k51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Or4k51 APN 2 111,584,771 (GRCm39) missense probably damaging 1.00
IGL01396:Or4k51 APN 2 111,584,848 (GRCm39) missense probably benign 0.01
IGL01396:Or4k51 APN 2 111,584,948 (GRCm39) missense probably damaging 1.00
IGL01538:Or4k51 APN 2 111,585,350 (GRCm39) missense probably damaging 0.98
IGL01795:Or4k51 APN 2 111,584,731 (GRCm39) missense probably benign 0.00
IGL02007:Or4k51 APN 2 111,584,824 (GRCm39) missense probably damaging 0.99
IGL02738:Or4k51 APN 2 111,584,699 (GRCm39) missense probably damaging 1.00
IGL03365:Or4k51 APN 2 111,584,772 (GRCm39) missense possibly damaging 0.95
R0014:Or4k51 UTSW 2 111,585,119 (GRCm39) missense probably damaging 1.00
R0115:Or4k51 UTSW 2 111,584,930 (GRCm39) missense probably damaging 1.00
R0481:Or4k51 UTSW 2 111,584,930 (GRCm39) missense probably damaging 1.00
R1441:Or4k51 UTSW 2 111,585,347 (GRCm39) missense probably damaging 1.00
R1583:Or4k51 UTSW 2 111,584,770 (GRCm39) missense probably damaging 0.98
R2301:Or4k51 UTSW 2 111,584,621 (GRCm39) missense probably benign 0.01
R2363:Or4k51 UTSW 2 111,585,139 (GRCm39) missense probably damaging 0.97
R2511:Or4k51 UTSW 2 111,584,661 (GRCm39) missense probably benign 0.00
R3686:Or4k51 UTSW 2 111,584,914 (GRCm39) missense probably benign 0.00
R4841:Or4k51 UTSW 2 111,584,679 (GRCm39) missense probably benign 0.00
R4915:Or4k51 UTSW 2 111,584,725 (GRCm39) missense probably benign 0.00
R4961:Or4k51 UTSW 2 111,584,750 (GRCm39) missense probably damaging 1.00
R5123:Or4k51 UTSW 2 111,584,897 (GRCm39) missense probably damaging 1.00
R5417:Or4k51 UTSW 2 111,585,265 (GRCm39) missense possibly damaging 0.50
R5654:Or4k51 UTSW 2 111,585,326 (GRCm39) missense probably damaging 1.00
R5753:Or4k51 UTSW 2 111,585,146 (GRCm39) missense possibly damaging 0.51
R6361:Or4k51 UTSW 2 111,584,940 (GRCm39) missense probably damaging 1.00
R6525:Or4k51 UTSW 2 111,585,329 (GRCm39) missense probably benign 0.09
R6682:Or4k51 UTSW 2 111,584,980 (GRCm39) missense probably damaging 1.00
R7099:Or4k51 UTSW 2 111,585,421 (GRCm39) missense probably benign 0.00
R7946:Or4k51 UTSW 2 111,585,163 (GRCm39) missense probably benign 0.00
R8925:Or4k51 UTSW 2 111,585,107 (GRCm39) missense probably benign 0.02
R8927:Or4k51 UTSW 2 111,585,107 (GRCm39) missense probably benign 0.02
R9272:Or4k51 UTSW 2 111,584,965 (GRCm39) missense probably damaging 0.99
R9451:Or4k51 UTSW 2 111,585,218 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TCTGAAAGGTGACAGTGACTC -3'
(R):5'- TCAAAGAAGACCTGGGACATGC -3'

Sequencing Primer
(F):5'- TCCTATCTCAGGTGTAGATGTTAAC -3'
(R):5'- CAGCCTGCAAAGGAAATGATCTTTG -3'
Posted On 2015-06-24