Incidental Mutation 'R2220:Or5k1'
ID 241460
Institutional Source Beutler Lab
Gene Symbol Or5k1
Ensembl Gene ENSMUSG00000049362
Gene Name olfactory receptor family 5 subfamily K member 1
Synonyms MOR184-3, GA_x54KRFPKG5P-54960233-54959268, Olfr173
MMRRC Submission 040222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2220 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 58617142-58618305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58617987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 74 (A74D)
Ref Sequence ENSEMBL: ENSMUSP00000145946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049940] [ENSMUST00000206205]
AlphaFold E9QAT7
Predicted Effect possibly damaging
Transcript: ENSMUST00000049940
AA Change: A74D

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: A74D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-52 PFAM
Pfam:7tm_1 41 290 9.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000206205
AA Change: A74D

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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
Aadacl4 T C 4: 144,344,572 (GRCm39) I116T probably damaging Het
Aatk G T 11: 119,903,003 (GRCm39) F407L probably damaging Het
Abca8a A T 11: 109,917,681 (GRCm39) L1586Q probably damaging Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,552 (GRCm39) D420G probably damaging Het
Bcl6 A T 16: 23,791,382 (GRCm39) L324* probably null Het
Bicc1 A G 10: 70,785,955 (GRCm39) S396P probably damaging Het
Bltp1 T C 3: 36,929,679 (GRCm39) probably null Het
Ccdc83 G A 7: 89,908,722 (GRCm39) S4L probably damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cep85 T C 4: 133,881,178 (GRCm39) H363R probably damaging Het
Cfap61 G A 2: 145,878,736 (GRCm39) probably null Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Cluh T A 11: 74,557,947 (GRCm39) F1062I probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Csmd1 T C 8: 16,042,641 (GRCm39) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,285,871 (GRCm39) D55G probably benign Het
Cyp2c29 A T 19: 39,275,676 (GRCm39) I39F probably benign Het
Cyp2j8 T C 4: 96,332,862 (GRCm39) S495G probably benign Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dnah7a C T 1: 53,560,333 (GRCm39) V2113I probably benign Het
Dusp3 T C 11: 101,865,631 (GRCm39) N95D probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Flg2 T G 3: 93,109,492 (GRCm39) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm39) H98R probably damaging Het
Ggnbp2 T C 11: 84,727,439 (GRCm39) N63S possibly damaging Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gtf2h5 G A 17: 6,134,853 (GRCm39) E48K probably benign Het
Hivep3 T G 4: 119,591,235 (GRCm39) V81G possibly damaging Het
Igsf21 A G 4: 139,755,425 (GRCm39) M410T probably damaging Het
Insrr T C 3: 87,716,725 (GRCm39) L651P probably damaging Het
Iqcb1 A T 16: 36,663,824 (GRCm39) probably null Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mertk T A 2: 128,643,392 (GRCm39) N930K probably benign Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Nedd4 T A 9: 72,643,989 (GRCm39) C614S probably damaging Het
Or13a19 T C 7: 139,903,484 (GRCm39) S291P probably benign Het
Or2l13b A T 16: 19,348,895 (GRCm39) Y258* probably null Het
Pard3b C T 1: 62,518,842 (GRCm39) R976* probably null Het
Pcdhb16 A G 18: 37,612,020 (GRCm39) T327A probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppp1r37 C A 7: 19,266,371 (GRCm39) R465L probably null Het
Ppp3ca C A 3: 136,503,685 (GRCm39) T86K probably damaging Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Rnf213 T C 11: 119,327,254 (GRCm39) L1747P possibly damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc25a18 G A 6: 120,770,518 (GRCm39) probably null Het
Stt3a A G 9: 36,660,847 (GRCm39) probably null Het
Supt16 G A 14: 52,409,601 (GRCm39) R770* probably null Het
Syde2 A G 3: 145,707,713 (GRCm39) I551V probably benign Het
Tasor2 A T 13: 3,631,872 (GRCm39) N876K probably benign Het
Tecta T C 9: 42,303,326 (GRCm39) D102G probably damaging Het
Tmc7 A T 7: 118,152,039 (GRCm39) I294N possibly damaging Het
Tmem174 T C 13: 98,773,767 (GRCm39) Y21C probably damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Trim30c A G 7: 104,032,474 (GRCm39) V284A probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Vps13d C T 4: 144,904,890 (GRCm39) V79M probably damaging Het
Wfdc18 C T 11: 83,600,739 (GRCm39) R45* probably null 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
IGL02893:Or5k1 APN 16 58,618,020 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TATGAAAGCTCCCGTCGTCATC -3'
(R):5'- TTACAGACCACCCTGAAATGAAGG -3'

Sequencing Primer
(F):5'- AGGCAGAGCTTCTTGGACATC -3'
(R):5'- CCTGAAATGAAGGGCCTTCTG -3'
Posted On 2014-10-15