Incidental Mutation 'R5670:Or5k1'
ID 442600
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 043313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5670 (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 A at 58617424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 262 (P262S)
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: P262S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: P262S

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: P262S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Ahsg T A 16: 22,716,913 (GRCm39) N158K probably benign Het
Arhgef10 T C 8: 15,004,774 (GRCm39) M430T probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Copg1 C T 6: 87,889,217 (GRCm39) T853M probably damaging Het
Ddb2 C T 2: 91,042,926 (GRCm39) V353M probably damaging Het
Dip2b A G 15: 100,087,985 (GRCm39) D973G possibly damaging Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
Fer1l6 C T 15: 58,494,331 (GRCm39) P1175S probably benign Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Igkv8-18 C T 6: 70,333,133 (GRCm39) T25I probably benign Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Mfsd8 A T 3: 40,776,484 (GRCm39) N389K probably benign Het
Mttp A T 3: 137,830,874 (GRCm39) V65D probably damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm39) D64V probably damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nkain4 A G 2: 180,584,995 (GRCm39) L73P probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or1l4 T A 2: 37,092,006 (GRCm39) V251D probably benign Het
Or2y1d T G 11: 49,322,035 (GRCm39) L244R probably damaging Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pi16 C T 17: 29,545,870 (GRCm39) T216I probably damaging Het
Plekha2 C A 8: 25,549,254 (GRCm39) A177S probably benign Het
Pramel29 A G 4: 143,936,192 (GRCm39) S23P probably benign Het
Prss16 C T 13: 22,187,221 (GRCm39) V450I possibly damaging Het
Rab3gap2 T A 1: 185,009,402 (GRCm39) L1086H probably damaging Het
Rab3gap2 C T 1: 184,954,096 (GRCm39) P56L probably benign Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 A G 11: 119,325,512 (GRCm39) probably null Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tespa1 T C 10: 130,190,624 (GRCm39) S84P probably damaging Het
Tlx2 G A 6: 83,046,807 (GRCm39) A85V possibly damaging Het
Tm4sf1 A T 3: 57,200,508 (GRCm39) F65I probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Tpte C T 8: 22,817,764 (GRCm39) S250F probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vps54 T A 11: 21,214,864 (GRCm39) I112N probably damaging Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K 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
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
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
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'- GCACACAGTTTACAAGCAATTCTAC -3'
(R):5'- GCTCAATCCAAGTCTTCACAATAGG -3'

Sequencing Primer
(F):5'- GCAATTCTACTGTGTAATCTCATGTG -3'
(R):5'- AATAGGTTGTGTCCTCATATCTTACC -3'
Posted On 2016-11-09