Incidental Mutation 'R5744:Or9k2'
ID 445724
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 043197-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.370) question?
Stock # R5744 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129998231-129999193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129998661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 178 (D178G)
Ref Sequence ENSEMBL: ENSMUSP00000149981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076814] [ENSMUST00000216530]
AlphaFold Q8VFU7
Predicted Effect possibly damaging
Transcript: ENSMUST00000076814
AA Change: D178G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076091
Gene: ENSMUSG00000058084
AA Change: D178G

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 possibly damaging
Transcript: ENSMUST00000216530
AA Change: D178G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218167
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,131 (GRCm39) I19V possibly damaging Het
Ascc3 T C 10: 50,586,977 (GRCm39) I943T probably benign Het
Btaf1 T C 19: 36,981,890 (GRCm39) V1640A probably benign Het
Cep250 T C 2: 155,823,394 (GRCm39) F1015S possibly damaging Het
Cgnl1 G T 9: 71,537,957 (GRCm39) probably null Het
Csgalnact2 C T 6: 118,103,197 (GRCm39) G255E probably damaging Het
Ctla2a C T 13: 61,083,767 (GRCm39) probably null Het
Dip2c A T 13: 9,618,441 (GRCm39) I497F probably damaging Het
Eif3f C A 7: 108,537,624 (GRCm39) T179K probably damaging Het
Frem2 A G 3: 53,563,380 (GRCm39) F376L probably damaging Het
Gemin4 A T 11: 76,102,991 (GRCm39) F590Y probably damaging Het
Gemin5 C A 11: 58,046,009 (GRCm39) C433F possibly damaging Het
Gm7694 C T 1: 170,130,075 (GRCm39) probably null Het
Gpr158 G A 2: 21,373,331 (GRCm39) G89R probably damaging Het
Herc1 C T 9: 66,415,475 (GRCm39) P4817S probably damaging Het
Hs6st3 T C 14: 119,375,852 (GRCm39) L9P possibly damaging Het
Igdcc3 TGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGC 9: 65,048,770 (GRCm39) probably benign Het
Il1rap A C 16: 26,498,974 (GRCm39) I158L probably benign Het
Itpr2 A G 6: 146,277,649 (GRCm39) S640P probably damaging Het
Metrn A G 17: 26,014,211 (GRCm39) V205A probably damaging Het
Mfhas1 C A 8: 36,056,636 (GRCm39) D370E probably damaging Het
Mn1 T C 5: 111,568,402 (GRCm39) S791P possibly damaging Het
Mtmr3 A G 11: 4,437,679 (GRCm39) V925A possibly damaging Het
Neil1 T C 9: 57,051,485 (GRCm39) T278A probably damaging Het
Nol8 A G 13: 49,815,802 (GRCm39) N619D possibly damaging Het
Nup214 T C 2: 31,900,308 (GRCm39) L879P probably damaging Het
Or2l5 A G 16: 19,334,086 (GRCm39) I100T probably benign Het
Or7a37 T C 10: 78,806,017 (GRCm39) F178S probably damaging Het
Plxna1 C T 6: 89,311,664 (GRCm39) R947Q possibly damaging Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Reln A C 5: 22,311,081 (GRCm39) S277R probably null Het
Sel1l A T 12: 91,776,754 (GRCm39) I746N possibly damaging Het
Slc2a8 C T 2: 32,866,040 (GRCm39) D291N probably benign Het
Slc7a5 T C 8: 122,615,121 (GRCm39) N242S probably benign Het
Smco3 T C 6: 136,808,763 (GRCm39) N37S probably damaging Het
Sult1c2 T A 17: 54,280,990 (GRCm39) K38* probably null Het
Tfap2b T C 1: 19,289,445 (GRCm39) M190T probably benign Het
Tnpo2 T A 8: 85,778,523 (GRCm39) Y623* probably null Het
Tomm70a G T 16: 56,942,202 (GRCm39) probably benign Het
Ttyh2 T C 11: 114,593,136 (GRCm39) probably null Het
Zbtb10 A G 3: 9,329,623 (GRCm39) Y327C probably damaging Het
Other mutations in Or9k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03244:Or9k2 APN 10 129,998,269 (GRCm39) nonsense probably null
R1120:Or9k2 UTSW 10 129,998,406 (GRCm39) missense probably damaging 1.00
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
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'- TGCAAGTGGAGAAGGCTTTC -3'
(R):5'- CATTGTGGCTGAAGGATTTCTCC -3'

Sequencing Primer
(F):5'- CTTCCTTCCCTCCACGGATCG -3'
(R):5'- GGATTTCTCCTGGCAGCCATG -3'
Posted On 2016-11-21