Incidental Mutation 'R9291:Or8k53'
ID 704255
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9291 (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 86177768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 114 (I114N)
Ref Sequence ENSEMBL: ENSMUSP00000097479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]
AlphaFold A2AVX9
Predicted Effect probably benign
Transcript: ENSMUST00000099894
AA Change: I114N

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: I114N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.3e-49 PFAM
Pfam:7tm_1 41 290 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188023
AA Change: I114N

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: I114N

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.7e-30 PFAM
Pfam:7tm_4 139 283 9.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213564
AA Change: I114N

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,464 (GRCm39) N551S probably benign Het
Abcg5 C A 17: 84,976,380 (GRCm39) V486L probably benign Het
Acoxl T A 2: 127,814,493 (GRCm39) I303N probably damaging Het
Atp6v1h G T 1: 5,220,284 (GRCm39) W464L probably null Het
Cdcp2 A G 4: 106,964,053 (GRCm39) D301G probably damaging Het
Cenpv T C 11: 62,429,688 (GRCm39) D115G probably benign Het
Cnfn T C 7: 25,067,476 (GRCm39) D67G possibly damaging Het
Col27a1 A C 4: 63,142,539 (GRCm39) I76L probably damaging Het
Crb2 G A 2: 37,682,213 (GRCm39) V865I probably damaging Het
Ctf1 T A 7: 127,316,204 (GRCm39) L58Q probably damaging Het
Dennd6b C T 15: 89,071,590 (GRCm39) V276M possibly damaging Het
Dis3l2 A G 1: 86,901,215 (GRCm39) T483A possibly damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah8 T C 17: 30,944,099 (GRCm39) I1772T probably damaging Het
Dscaml1 T C 9: 45,359,251 (GRCm39) I170T probably damaging Het
Ehd4 G T 2: 119,921,755 (GRCm39) D500E probably damaging Het
Elac2 T C 11: 64,883,142 (GRCm39) I388T probably damaging Het
Entpd6 G A 2: 150,608,959 (GRCm39) V348M probably benign Het
Epg5 T A 18: 78,056,065 (GRCm39) C1746* probably null Het
Exosc2 G T 2: 31,560,871 (GRCm39) M40I probably benign Het
Fam193a T C 5: 34,593,835 (GRCm39) Y27H probably damaging Het
Gm8005 A G 14: 42,258,885 (GRCm39) F148L Het
Hectd4 T C 5: 121,487,028 (GRCm39) V3341A probably benign Het
Hecw1 A G 13: 14,491,522 (GRCm39) V77A probably benign Het
Irf2bp1 T A 7: 18,738,458 (GRCm39) C33S probably damaging Het
Kank4 A T 4: 98,666,688 (GRCm39) H586Q probably benign Het
Kcnu1 A G 8: 26,390,041 (GRCm39) N619S probably benign Het
Kndc1 A G 7: 139,475,140 (GRCm39) E13G possibly damaging Het
Lrp2 A T 2: 69,310,379 (GRCm39) D2731E probably damaging Het
Lyst A G 13: 13,883,938 (GRCm39) N2942S probably benign Het
Maml3 G A 3: 51,764,328 (GRCm39) T212M probably benign Het
Mill2 T C 7: 18,575,416 (GRCm39) V41A probably benign Het
Moxd2 C A 6: 40,857,362 (GRCm39) C466F probably damaging Het
Nefh A G 11: 4,890,871 (GRCm39) S583P probably benign Het
Nlrp9b T A 7: 19,758,511 (GRCm39) S583T possibly damaging Het
Nup214 T G 2: 31,867,806 (GRCm39) M91R probably benign Het
Or4c121 A C 2: 89,024,138 (GRCm39) M80R possibly damaging Het
Or6c206 T C 10: 129,097,202 (GRCm39) I124T probably damaging Het
Otud4 A G 8: 80,372,952 (GRCm39) Y90C probably damaging Het
Papln C A 12: 83,825,284 (GRCm39) T575N probably benign Het
Pkhd1l1 T A 15: 44,433,372 (GRCm39) N3417K probably damaging Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Pramel26 A T 4: 143,539,251 (GRCm39) Y81N probably benign Het
Rchy1 A G 5: 92,099,765 (GRCm39) L191S possibly damaging Het
Rims1 T C 1: 22,467,746 (GRCm39) D296G Het
Sftpb T A 6: 72,286,880 (GRCm39) C261* probably null Het
Sgcd C T 11: 46,870,166 (GRCm39) C265Y probably damaging Het
Slc44a5 G A 3: 153,962,218 (GRCm39) V384M possibly damaging Het
Slx4ip T A 2: 136,888,716 (GRCm39) N132K probably benign Het
Sspo C T 6: 48,473,330 (GRCm39) T4861M probably damaging Het
Swt1 T A 1: 151,286,694 (GRCm39) E266V probably damaging Het
Tbc1d9 A G 8: 83,987,750 (GRCm39) D903G probably damaging Het
Tbx18 A T 9: 87,611,535 (GRCm39) M165K probably damaging Het
Tmem25 T C 9: 44,706,799 (GRCm39) N282S probably damaging Het
Tom1l2 T C 11: 60,153,556 (GRCm39) I140M probably benign Het
Trak2 A G 1: 58,943,058 (GRCm39) S783P probably damaging Het
Trpv4 G A 5: 114,768,068 (GRCm39) T534M probably benign Het
Ttc6 G T 12: 57,622,730 (GRCm39) R43M probably damaging Het
Vmn1r194 A G 13: 22,428,875 (GRCm39) Y164C probably benign Het
Vmn1r228 T C 17: 20,997,023 (GRCm39) Y165C probably benign Het
Vps13b C A 15: 35,847,059 (GRCm39) T2614K probably damaging Het
Zdhhc14 T C 17: 5,698,237 (GRCm39) F102S probably benign Het
Zyg11b A G 4: 108,108,014 (GRCm39) M464T probably benign 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
R6312:Or8k53 UTSW 2 86,177,925 (GRCm39) missense probably damaging 1.00
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
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'- TCAACGGCAGACTGTCACAG -3'
(R):5'- GACTCTAGACTTCAGACACCTATG -3'

Sequencing Primer
(F):5'- CTGTCACAGTAGAAATGCCTGATG -3'
(R):5'- AGACTTCAGACACCTATGTACTTC -3'
Posted On 2022-03-25