Incidental Mutation 'R3976:Or2k2'
ID 312631
Institutional Source Beutler Lab
Gene Symbol Or2k2
Ensembl Gene ENSMUSG00000043385
Gene Name olfactory receptor family 2 subfamily K member 2
Synonyms MOR262-1, GA_x6K02T2N78B-1272842-1273783, Olfr267
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R3976 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 58784779-58785720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58785164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 186 (L186P)
Ref Sequence ENSEMBL: ENSMUSP00000150848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059608] [ENSMUST00000216719]
AlphaFold A2AM35
Predicted Effect probably damaging
Transcript: ENSMUST00000059608
AA Change: L186P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062002
Gene: ENSMUSG00000043385
AA Change: L186P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 4e-51 PFAM
Pfam:7tm_1 41 289 5.2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216719
AA Change: L186P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Bola3 T C 6: 83,328,249 (GRCm39) L45P probably benign Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxo16 T A 14: 65,524,606 (GRCm39) L42Q probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rab18 T A 18: 6,778,529 (GRCm39) D53E probably benign Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rhbg C A 3: 88,151,843 (GRCm39) G383V probably damaging Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign Het
Other mutations in Or2k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01687:Or2k2 APN 4 58,785,047 (GRCm39) missense probably damaging 1.00
R0281:Or2k2 UTSW 4 58,784,981 (GRCm39) missense probably damaging 1.00
R0282:Or2k2 UTSW 4 58,785,344 (GRCm39) missense probably damaging 1.00
R1017:Or2k2 UTSW 4 58,785,115 (GRCm39) missense probably damaging 0.98
R1843:Or2k2 UTSW 4 58,785,384 (GRCm39) missense probably benign
R4368:Or2k2 UTSW 4 58,785,153 (GRCm39) missense probably benign 0.00
R5545:Or2k2 UTSW 4 58,785,585 (GRCm39) missense probably benign 0.08
R5659:Or2k2 UTSW 4 58,785,672 (GRCm39) missense probably damaging 1.00
R5668:Or2k2 UTSW 4 58,785,489 (GRCm39) missense probably benign 0.00
R6186:Or2k2 UTSW 4 58,784,948 (GRCm39) missense probably damaging 1.00
R6925:Or2k2 UTSW 4 58,785,647 (GRCm39) missense possibly damaging 0.69
R7502:Or2k2 UTSW 4 58,785,648 (GRCm39) missense probably benign 0.00
R8185:Or2k2 UTSW 4 58,785,542 (GRCm39) missense probably damaging 1.00
R8519:Or2k2 UTSW 4 58,785,203 (GRCm39) missense probably damaging 0.99
R9055:Or2k2 UTSW 4 58,785,374 (GRCm39) missense possibly damaging 0.91
R9152:Or2k2 UTSW 4 58,785,114 (GRCm39) missense probably benign
R9159:Or2k2 UTSW 4 58,785,320 (GRCm39) missense probably benign 0.08
R9623:Or2k2 UTSW 4 58,785,585 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- CAAGTGTGCACCACAGGTTG -3'
(R):5'- CAGAGTGTATACTTCTGGCGG -3'

Sequencing Primer
(F):5'- CACCACAGGTTGAAAAAGCTTTG -3'
(R):5'- GATCGTTATGTGGCCATCTGTAACC -3'
Posted On 2015-04-30