Incidental Mutation 'R3609:Or8k23'
ID 269179
Institutional Source Beutler Lab
Gene Symbol Or8k23
Ensembl Gene ENSMUSG00000075188
Gene Name olfactory receptor family 8 subfamily K member 23
Synonyms MOR186-2, Olfr1056, GA_x6K02T2Q125-47827833-47826892
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3609 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86185703-86186781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 86185826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 300 (A300G)
Ref Sequence ENSEMBL: ENSMUSP00000149545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099893] [ENSMUST00000216547]
AlphaFold A2AVY0
Predicted Effect probably damaging
Transcript: ENSMUST00000099893
AA Change: A300G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097478
Gene: ENSMUSG00000075188
AA Change: A300G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-47 PFAM
Pfam:7tm_1 41 290 7.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216547
AA Change: A300G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifc A T 10: 85,836,502 (GRCm39) M1K probably null Het
Cc2d2a A T 5: 43,869,668 (GRCm39) E856D probably damaging Het
Ces1c A T 8: 93,846,960 (GRCm39) I98N probably damaging Het
Clec4b1 T A 6: 123,027,591 (GRCm39) L16Q probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dop1b A G 16: 93,536,220 (GRCm39) Y106C probably damaging Het
Irak3 G T 10: 119,981,582 (GRCm39) T441K possibly damaging Het
Kif18a A C 2: 109,168,941 (GRCm39) D833A probably benign Het
Lypd8l G A 11: 58,503,384 (GRCm39) T48I possibly damaging Het
Morc2b A G 17: 33,355,252 (GRCm39) V840A probably damaging Het
Or4a47 A G 2: 89,665,420 (GRCm39) S290P probably damaging Het
Or5al1 G A 2: 85,989,976 (GRCm39) T246I probably benign Het
Or5p57 A G 7: 107,665,576 (GRCm39) F143S probably damaging Het
Pgap6 G A 17: 26,337,860 (GRCm39) V415I probably benign Het
Rest A C 5: 77,430,647 (GRCm39) N1022T probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Tsc2 A C 17: 24,841,524 (GRCm39) I365S possibly damaging Het
Ttn C T 2: 76,589,603 (GRCm39) R21217H probably damaging Het
Vim A T 2: 13,583,437 (GRCm39) H253L possibly damaging Het
Vmn2r71 T A 7: 85,268,870 (GRCm39) C358S probably damaging Het
Other mutations in Or8k23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Or8k23 APN 2 86,186,477 (GRCm39) missense possibly damaging 0.89
R0525:Or8k23 UTSW 2 86,186,619 (GRCm39) missense probably benign 0.00
R0544:Or8k23 UTSW 2 86,186,007 (GRCm39) missense probably damaging 1.00
R1124:Or8k23 UTSW 2 86,186,239 (GRCm39) missense probably damaging 1.00
R2011:Or8k23 UTSW 2 86,186,530 (GRCm39) missense possibly damaging 0.70
R2395:Or8k23 UTSW 2 86,186,609 (GRCm39) missense probably benign 0.01
R2508:Or8k23 UTSW 2 86,186,708 (GRCm39) missense possibly damaging 0.89
R3923:Or8k23 UTSW 2 86,186,205 (GRCm39) missense probably benign 0.22
R4531:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R4836:Or8k23 UTSW 2 86,186,094 (GRCm39) missense probably benign 0.39
R5085:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R6210:Or8k23 UTSW 2 86,186,702 (GRCm39) missense probably benign 0.00
R7265:Or8k23 UTSW 2 86,186,088 (GRCm39) missense probably benign 0.00
R8059:Or8k23 UTSW 2 86,186,306 (GRCm39) missense probably benign 0.01
R8286:Or8k23 UTSW 2 86,186,691 (GRCm39) missense probably damaging 1.00
R8460:Or8k23 UTSW 2 86,186,198 (GRCm39) missense probably damaging 1.00
R9643:Or8k23 UTSW 2 86,186,408 (GRCm39) missense probably benign 0.20
X0020:Or8k23 UTSW 2 86,186,118 (GRCm39) missense probably benign 0.09
Z1088:Or8k23 UTSW 2 86,186,237 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- TCACTATGCCTTTTAGGTCCAG -3'
(R):5'- TGGGTCTCACCTTACAGTGG -3'

Sequencing Primer
(F):5'- CTTGTAGGACCCAAGAGT -3'
(R):5'- ACAGTGGTAGTTATATTGTATGGGAC -3'
Posted On 2015-02-19