Incidental Mutation 'IGL02893:Or5k1'
ID 363274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5k1
Ensembl Gene ENSMUSG00000049362
Gene Name olfactory receptor family 5 subfamily K member 1
Synonyms MOR184-3, GA_x54KRFPKG5P-54960233-54959268, Olfr173
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02893
Quality Score
Status
Chromosome 16
Chromosomal Location 58617142-58618305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58618020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 63 (L63P)
Ref Sequence ENSEMBL: ENSMUSP00000145946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049940] [ENSMUST00000206205]
AlphaFold E9QAT7
Predicted Effect probably damaging
Transcript: ENSMUST00000049940
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: L63P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-52 PFAM
Pfam:7tm_1 41 290 9.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206205
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,543 (GRCm39) V802A probably damaging Het
Acsl6 G A 11: 54,236,725 (GRCm39) V540M probably damaging Het
Ahctf1 A C 1: 179,603,576 (GRCm39) Y823* probably null Het
Bbs1 T A 19: 4,947,604 (GRCm39) K317* probably null Het
Cand2 T C 6: 115,768,921 (GRCm39) L577P probably damaging Het
Cfap44 A T 16: 44,237,180 (GRCm39) D449V probably damaging Het
Col28a1 C T 6: 8,103,534 (GRCm39) G421S probably damaging Het
Dgkd A G 1: 87,842,930 (GRCm39) probably benign Het
Entpd1 T C 19: 40,715,961 (GRCm39) V347A probably damaging Het
Etl4 T A 2: 20,765,021 (GRCm39) probably benign Het
Fam20a G A 11: 109,612,414 (GRCm39) A43V probably benign Het
Fbxo9 A G 9: 77,989,377 (GRCm39) probably benign Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Gale T C 4: 135,694,913 (GRCm39) V295A probably benign Het
Gpr139 A T 7: 118,744,366 (GRCm39) V73D probably damaging Het
Hpca A T 4: 129,012,215 (GRCm39) M107K probably damaging Het
Igdcc4 G T 9: 65,040,353 (GRCm39) V1002F probably damaging Het
Irx4 T A 13: 73,416,897 (GRCm39) L431H probably damaging Het
Lca5l T C 16: 95,980,113 (GRCm39) T6A probably benign Het
Lrp4 C T 2: 91,305,161 (GRCm39) R263C possibly damaging Het
Meikin G A 11: 54,308,584 (GRCm39) C394Y possibly damaging Het
Mmp25 T C 17: 23,863,025 (GRCm39) T129A probably damaging Het
Mmp9 A G 2: 164,790,988 (GRCm39) probably null Het
Mtmr3 A T 11: 4,457,632 (GRCm39) M171K possibly damaging Het
Muc4 C T 16: 32,570,466 (GRCm39) H509Y possibly damaging Het
Nwd1 A T 8: 73,394,129 (GRCm39) H464L probably damaging Het
Paqr5 G A 9: 61,876,150 (GRCm39) A128V probably benign Het
Pcdhb10 G A 18: 37,546,687 (GRCm39) V588M probably damaging Het
Pip A G 6: 41,824,596 (GRCm39) D28G probably damaging Het
Rnf31 T A 14: 55,836,566 (GRCm39) F800Y probably damaging Het
Sag T G 1: 87,762,315 (GRCm39) S327A probably benign Het
Sdf4 T C 4: 156,080,985 (GRCm39) probably benign Het
Slc10a6 A T 5: 103,776,739 (GRCm39) D120E probably benign Het
Spata31d1d T A 13: 59,873,793 (GRCm39) K1247N possibly damaging Het
Stam2 A G 2: 52,604,914 (GRCm39) V207A probably damaging Het
Sytl3 T C 17: 7,000,373 (GRCm39) L181P probably damaging Het
Tbc1d32 T C 10: 55,893,799 (GRCm39) E1258G probably damaging Het
Tmem63b T G 17: 45,972,826 (GRCm39) H656P probably damaging Het
Tmem69 T A 4: 116,410,926 (GRCm39) M15L probably benign Het
Tmprss7 T A 16: 45,489,891 (GRCm39) I444F possibly damaging Het
Ttbk2 C A 2: 120,614,210 (GRCm39) R168L probably damaging Het
Ttc28 A G 5: 111,433,251 (GRCm39) Y2095C possibly damaging Het
Ube3c A G 5: 29,837,761 (GRCm39) Y643C probably damaging Het
Ywhaq G A 12: 21,446,410 (GRCm39) A152V probably damaging Het
Zeb2 T A 2: 44,886,619 (GRCm39) I813F probably benign Het
Other mutations in Or5k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02649:Or5k1 APN 16 58,617,713 (GRCm39) missense probably damaging 1.00
IGL02728:Or5k1 APN 16 58,617,843 (GRCm39) missense probably benign 0.07
R0035:Or5k1 UTSW 16 58,617,485 (GRCm39) nonsense probably null
R0480:Or5k1 UTSW 16 58,617,684 (GRCm39) missense probably benign 0.05
R1101:Or5k1 UTSW 16 58,617,615 (GRCm39) missense probably benign 0.27
R1434:Or5k1 UTSW 16 58,617,811 (GRCm39) missense probably benign 0.06
R1992:Or5k1 UTSW 16 58,617,309 (GRCm39) missense probably benign
R2220:Or5k1 UTSW 16 58,617,987 (GRCm39) missense possibly damaging 0.69
R2436:Or5k1 UTSW 16 58,617,607 (GRCm39) missense probably benign 0.00
R4212:Or5k1 UTSW 16 58,617,732 (GRCm39) missense possibly damaging 0.67
R4910:Or5k1 UTSW 16 58,617,805 (GRCm39) missense probably benign 0.03
R5666:Or5k1 UTSW 16 58,617,424 (GRCm39) missense possibly damaging 0.75
R5670:Or5k1 UTSW 16 58,617,424 (GRCm39) missense possibly damaging 0.75
R5896:Or5k1 UTSW 16 58,618,095 (GRCm39) missense probably damaging 1.00
R6182:Or5k1 UTSW 16 58,617,655 (GRCm39) missense probably damaging 1.00
R6613:Or5k1 UTSW 16 58,617,894 (GRCm39) missense probably damaging 0.99
R6723:Or5k1 UTSW 16 58,617,795 (GRCm39) missense probably benign 0.06
R7051:Or5k1 UTSW 16 58,617,538 (GRCm39) missense probably benign 0.21
R7141:Or5k1 UTSW 16 58,617,771 (GRCm39) missense probably benign 0.05
R7179:Or5k1 UTSW 16 58,617,250 (GRCm39) missense probably benign 0.00
R7602:Or5k1 UTSW 16 58,617,343 (GRCm39) missense possibly damaging 0.62
R8425:Or5k1 UTSW 16 58,617,966 (GRCm39) missense probably benign 0.11
Z1176:Or5k1 UTSW 16 58,618,036 (GRCm39) missense probably damaging 0.99
Z1176:Or5k1 UTSW 16 58,617,786 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18