Incidental Mutation 'R4212:Or5k1'
ID 319276
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 041641-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 58617142-58618305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58617732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 159 (H159L)
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: H159L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: H159L

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: H159L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E possibly damaging 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
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'- AGGTGGAGAAGGCTTTGATCC -3'
(R):5'- CTGTGCACTGTTGAAACTGC -3'

Sequencing Primer
(F):5'- AAGGCTTTGATCCTTCCCTC -3'
(R):5'- CTGTTGAAACTGCAGACTGC -3'
Posted On 2015-06-10