Incidental Mutation 'R1120:Or9k2'
ID 95526
Institutional Source Beutler Lab
Gene Symbol Or9k2
Ensembl Gene ENSMUSG00000058084
Gene Name olfactory receptor family 9 subfamily K member 2
Synonyms GA_x6K02T2PULF-11834065-11833103, Olfr825, MOR210-1
MMRRC Submission 039193-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.370) question?
Stock # R1120 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129998231-129999193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129998406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 263 (L263P)
Ref Sequence ENSEMBL: ENSMUSP00000149981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076814] [ENSMUST00000216530]
AlphaFold Q8VFU7
Predicted Effect probably damaging
Transcript: ENSMUST00000076814
AA Change: L263P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076091
Gene: ENSMUSG00000058084
AA Change: L263P

DomainStartEndE-ValueType
Pfam:7tm_4 34 309 8.8e-54 PFAM
Pfam:7TM_GPCR_Srsx 38 251 9.6e-6 PFAM
Pfam:7tm_1 44 291 2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216434
Predicted Effect probably damaging
Transcript: ENSMUST00000216530
AA Change: L263P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218167
Meta Mutation Damage Score 0.7089 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T G 5: 24,613,818 (GRCm39) probably null Het
Akp3 A T 1: 87,053,159 (GRCm39) Q77L probably damaging Het
Blm A G 7: 80,131,214 (GRCm39) L878S probably damaging Het
Cabin1 A G 10: 75,561,550 (GRCm39) Y984H probably damaging Het
Cadps2 T C 6: 23,838,793 (GRCm39) Q86R probably damaging Het
Cd2 C T 3: 101,194,804 (GRCm39) D95N probably damaging Het
Cd36 A G 5: 17,990,826 (GRCm39) I438T possibly damaging Het
Crhbp G T 13: 95,578,593 (GRCm39) T176K probably benign Het
D630045J12Rik G T 6: 38,171,705 (GRCm39) T821K probably damaging Het
Disp1 T C 1: 182,880,139 (GRCm39) D288G probably benign Het
Dsc3 A G 18: 20,120,034 (GRCm39) V208A probably benign Het
Eef1e1 A T 13: 38,842,910 (GRCm39) N20K probably damaging Het
Ercc5 A G 1: 44,201,001 (GRCm39) D187G probably damaging Het
Etl4 T A 2: 20,811,514 (GRCm39) M1199K probably benign Het
Fnbp1 A T 2: 30,926,606 (GRCm39) Y433N probably damaging Het
Fxyd3 A G 7: 30,770,803 (GRCm39) probably benign Het
Hfm1 A T 5: 107,052,084 (GRCm39) probably benign Het
Irak2 T A 6: 113,652,720 (GRCm39) probably benign Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Knl1 A G 2: 118,892,856 (GRCm39) R51G probably damaging Het
Krtap8-1 A G 16: 89,284,753 (GRCm39) Y15H probably benign Het
Lrba A T 3: 86,202,499 (GRCm39) D250V probably damaging Het
Mgat4a A G 1: 37,491,662 (GRCm39) S357P probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Or4a27 A G 2: 88,559,281 (GRCm39) Y221H probably damaging Het
Or4c109 A G 2: 88,818,423 (GRCm39) M41T possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pnpla8 A G 12: 44,351,730 (GRCm39) T568A possibly damaging Het
Ptprn A G 1: 75,234,825 (GRCm39) I254T probably benign Het
Rab5b A C 10: 128,515,483 (GRCm39) N188K probably benign Het
Samd5 A G 10: 9,504,792 (GRCm39) V154A possibly damaging Het
Smarcb1 A G 10: 75,757,157 (GRCm39) F25L probably benign Het
Smchd1 A T 17: 71,665,141 (GRCm39) Y1847* probably null Het
Smpd4 T C 16: 17,456,350 (GRCm39) probably benign Het
Tex14 T A 11: 87,429,502 (GRCm39) probably benign Het
Tnfrsf26 G A 7: 143,171,651 (GRCm39) R101C probably damaging Het
Trmu A G 15: 85,774,486 (GRCm39) K37E possibly damaging Het
Tsen54 C T 11: 115,705,839 (GRCm39) A52V probably damaging Het
Ubb T C 11: 62,443,009 (GRCm39) I13T possibly damaging Het
Vmn2r101 A T 17: 19,797,723 (GRCm39) probably benign Het
Other mutations in Or9k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03244:Or9k2 APN 10 129,998,269 (GRCm39) nonsense probably null
R1341:Or9k2 UTSW 10 129,999,185 (GRCm39) missense probably benign 0.00
R1754:Or9k2 UTSW 10 129,999,033 (GRCm39) missense probably benign 0.02
R2022:Or9k2 UTSW 10 129,999,049 (GRCm39) missense probably benign 0.00
R2027:Or9k2 UTSW 10 129,998,604 (GRCm39) missense probably benign 0.00
R3838:Or9k2 UTSW 10 129,998,275 (GRCm39) nonsense probably null
R3842:Or9k2 UTSW 10 129,998,770 (GRCm39) missense probably benign 0.00
R4737:Or9k2 UTSW 10 129,998,707 (GRCm39) missense probably benign 0.01
R5166:Or9k2 UTSW 10 129,998,430 (GRCm39) missense possibly damaging 0.60
R5744:Or9k2 UTSW 10 129,998,661 (GRCm39) missense possibly damaging 0.92
R5899:Or9k2 UTSW 10 129,998,542 (GRCm39) missense probably benign 0.00
R7754:Or9k2 UTSW 10 129,998,698 (GRCm39) missense probably damaging 1.00
R8098:Or9k2 UTSW 10 129,998,916 (GRCm39) missense probably benign 0.32
R9393:Or9k2 UTSW 10 129,999,016 (GRCm39) missense probably benign 0.39
X0026:Or9k2 UTSW 10 129,998,600 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCTCCCCAGGACATTGACAT -3'
(R):5'- TGTGATAGTCGGCCACTTCAGAGA -3'

Sequencing Primer
(F):5'- GTCATAATTCATGACGATGCACTG -3'
(R):5'- GGCCACTTCAGAGACTCTCC -3'
Posted On 2014-01-05