Incidental Mutation 'R0225:Or8k53'
ID 33834
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 038470-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0225 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86177068-86178108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86178072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 13 (I13V)
Ref Sequence ENSEMBL: ENSMUSP00000149219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]
AlphaFold A2AVX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000099894
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: I13V

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: I13V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: I13V

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.7e-30 PFAM
Pfam:7tm_4 139 283 9.2e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213564
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Arhgap23 G T 11: 97,335,154 (GRCm39) V70L probably benign Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Col18a1 T C 10: 76,924,748 (GRCm39) S14G possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Dele1 G A 18: 38,394,317 (GRCm39) V505I probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Esyt2 A G 12: 116,331,330 (GRCm39) N736S probably damaging Het
F11 T C 8: 45,702,114 (GRCm39) T267A probably benign Het
Fam234b T G 6: 135,194,072 (GRCm39) S242A possibly damaging Het
Gadd45b A G 10: 80,766,181 (GRCm39) N11S probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Gm10647 A G 9: 66,705,777 (GRCm39) probably benign Het
Gm10936 G A 10: 117,084,035 (GRCm39) noncoding transcript Het
Gzmd A G 14: 56,367,161 (GRCm39) W244R probably damaging Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Ighv15-2 T G 12: 114,528,657 (GRCm39) probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgae A C 11: 73,002,168 (GRCm39) M91L probably benign Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kat2b A G 17: 53,948,238 (GRCm39) E336G probably damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif23 C G 9: 61,832,976 (GRCm39) probably benign Het
Lgi3 A T 14: 70,770,261 (GRCm39) I109L probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lipo4 A G 19: 33,479,006 (GRCm39) V278A probably benign Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Map9 G A 3: 82,267,290 (GRCm39) probably benign Het
Miox C T 15: 89,218,657 (GRCm39) probably benign Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or4k5 T G 14: 50,386,092 (GRCm39) K80Q probably damaging Het
Or8d1b A G 9: 38,887,574 (GRCm39) I201V probably benign Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Prickle1 A G 15: 93,408,658 (GRCm39) L47P possibly damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rapgef2 A T 3: 79,011,412 (GRCm39) S224R probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Siglecg G A 7: 43,060,595 (GRCm39) G325D probably damaging Het
Skor2 A T 18: 76,946,793 (GRCm39) I172F unknown Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
St14 T A 9: 31,019,580 (GRCm39) probably null Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tbxa2r C A 10: 81,168,734 (GRCm39) T141K possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Tyms A G 5: 30,268,256 (GRCm39) I148T probably damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn1r58 A C 7: 5,413,865 (GRCm39) S122A probably benign Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Wfdc8 A G 2: 164,439,105 (GRCm39) Y426H probably benign Het
Zfp948 A T 17: 21,807,556 (GRCm39) K249N probably damaging Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zyg11a G A 4: 108,061,838 (GRCm39) T321I probably 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
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
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'- GCTGGACTGAGCACCAAATATAGGAAA -3'
(R):5'- GTGACACTGCTGATGCTTCTTATCCATA -3'

Sequencing Primer
(F):5'- TTATTAACATCTTAGGCCCCACAG -3'
(R):5'- CTCCCATTGACAGAAAAGTGTTCAG -3'
Posted On 2013-05-09