Incidental Mutation 'R6312:Or8k53'
ID 509797
Institutional Source Beutler Lab
Gene Symbol Or8k53
Ensembl Gene ENSMUSG00000075189
Gene Name olfactory receptor family 8 subfamily K member 53
Synonyms MOR186-1, GA_x6K02T2Q125-47819205-47818258, Olfr1055
MMRRC Submission 044415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86177068-86178108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86177925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 62 (F62I)
Ref Sequence ENSEMBL: ENSMUSP00000149219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]
AlphaFold A2AVX9
Predicted Effect probably damaging
Transcript: ENSMUST00000099894
AA Change: F62I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: F62I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.3e-49 PFAM
Pfam:7tm_1 41 290 1.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188023
AA Change: F62I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: F62I

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.7e-30 PFAM
Pfam:7tm_4 139 283 9.2e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213564
AA Change: F62I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
B3gat2 G T 1: 23,854,548 (GRCm39) E83* probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
C2cd4d C A 3: 94,271,742 (GRCm39) P336H probably damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cers5 A G 15: 99,644,996 (GRCm39) V119A probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Gng3 A G 19: 8,815,997 (GRCm39) V7A probably benign Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T possibly damaging Het
Other mutations in Or8k53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Or8k53 APN 2 86,178,077 (GRCm39) missense possibly damaging 0.71
IGL02524:Or8k53 APN 2 86,177,686 (GRCm39) missense probably damaging 1.00
R0123:Or8k53 UTSW 2 86,178,072 (GRCm39) missense possibly damaging 0.46
R0134:Or8k53 UTSW 2 86,178,072 (GRCm39) missense possibly damaging 0.46
R0225:Or8k53 UTSW 2 86,178,072 (GRCm39) missense possibly damaging 0.46
R1981:Or8k53 UTSW 2 86,177,486 (GRCm39) missense possibly damaging 0.94
R4181:Or8k53 UTSW 2 86,177,581 (GRCm39) missense probably damaging 1.00
R5011:Or8k53 UTSW 2 86,177,647 (GRCm39) missense probably benign 0.00
R5013:Or8k53 UTSW 2 86,177,647 (GRCm39) missense probably benign 0.00
R5077:Or8k53 UTSW 2 86,177,683 (GRCm39) missense probably benign 0.00
R6345:Or8k53 UTSW 2 86,177,892 (GRCm39) missense probably damaging 1.00
R6591:Or8k53 UTSW 2 86,177,763 (GRCm39) missense probably damaging 1.00
R6626:Or8k53 UTSW 2 86,177,364 (GRCm39) missense possibly damaging 0.81
R6680:Or8k53 UTSW 2 86,177,589 (GRCm39) missense probably damaging 1.00
R6691:Or8k53 UTSW 2 86,177,763 (GRCm39) missense probably damaging 1.00
R7447:Or8k53 UTSW 2 86,177,150 (GRCm39) missense possibly damaging 0.86
R7622:Or8k53 UTSW 2 86,178,006 (GRCm39) missense possibly damaging 0.61
R8114:Or8k53 UTSW 2 86,177,530 (GRCm39) missense probably benign 0.00
R8138:Or8k53 UTSW 2 86,177,930 (GRCm39) missense possibly damaging 0.81
R8242:Or8k53 UTSW 2 86,177,426 (GRCm39) missense probably damaging 0.99
R8260:Or8k53 UTSW 2 86,177,276 (GRCm39) missense possibly damaging 0.65
R8360:Or8k53 UTSW 2 86,177,668 (GRCm39) missense possibly damaging 0.79
R8433:Or8k53 UTSW 2 86,177,144 (GRCm39) missense unknown
R8927:Or8k53 UTSW 2 86,178,090 (GRCm39) missense possibly damaging 0.92
R8928:Or8k53 UTSW 2 86,178,090 (GRCm39) missense possibly damaging 0.92
R9150:Or8k53 UTSW 2 86,177,336 (GRCm39) missense probably damaging 0.99
R9291:Or8k53 UTSW 2 86,177,768 (GRCm39) missense probably benign 0.14
R9487:Or8k53 UTSW 2 86,177,846 (GRCm39) missense probably benign 0.10
R9712:Or8k53 UTSW 2 86,177,583 (GRCm39) missense probably benign 0.22
Z1176:Or8k53 UTSW 2 86,177,227 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGGATGGCAGATGGCTACATAG -3'
(R):5'- TTCCTGAGTAGTCTAGATGGATACG -3'

Sequencing Primer
(F):5'- CTACATAGCGGTCATAGGCCATG -3'
(R):5'- TGGATACGTACAATCTTACAGTACTG -3'
Posted On 2018-04-02