Incidental Mutation 'R9363:Or5ak23'
ID 708775
Institutional Source Beutler Lab
Gene Symbol Or5ak23
Ensembl Gene ENSMUSG00000075220
Gene Name olfactory receptor family 5 subfamily AK member 23
Synonyms MOR203-2, Olfr993, GA_x6K02T2Q125-46891524-46890580
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R9363 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85244277-85245221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85244993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 77 (I77F)
Ref Sequence ENSEMBL: ENSMUSP00000097510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099926]
AlphaFold Q8VF75
Predicted Effect probably damaging
Transcript: ENSMUST00000099926
AA Change: I77F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: I77F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 303 1.3e-7 PFAM
Pfam:7tm_1 41 290 2.2e-21 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,438,575 (GRCm39) probably null Het
Alkbh1 A T 12: 87,487,080 (GRCm39) Y96* probably null Het
Alkbh8 T A 9: 3,385,576 (GRCm39) C658S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Blm T C 7: 80,108,663 (GRCm39) Y1327C probably damaging Het
Ccdc28a C T 10: 18,094,050 (GRCm39) D190N unknown Het
Chdh A G 14: 29,753,310 (GRCm39) E73G probably damaging Het
Dab2 C T 15: 6,460,481 (GRCm39) P463L probably benign Het
Dcun1d2 A G 8: 13,309,014 (GRCm39) Y184H probably benign Het
Dst T C 1: 34,235,060 (GRCm39) L3535P probably damaging Het
Egr3 A G 14: 70,316,761 (GRCm39) I153V possibly damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Hcfc2 C T 10: 82,574,258 (GRCm39) P144L probably damaging Het
Jkampl T A 6: 73,446,487 (GRCm39) I21F possibly damaging Het
Mdc1 C A 17: 36,162,019 (GRCm39) Q942K probably benign Het
Med15 C T 16: 17,489,414 (GRCm39) V387I unknown Het
Muc4 C T 16: 32,576,992 (GRCm39) S94L Het
Otud3 G T 4: 138,623,133 (GRCm39) N369K probably benign Het
Parp14 C T 16: 35,678,586 (GRCm39) E461K possibly damaging Het
Paxbp1 T A 16: 90,827,395 (GRCm39) Q480L probably damaging Het
Polr3a G A 14: 24,500,831 (GRCm39) A1319V probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkg2 A T 5: 99,172,257 (GRCm39) S153T probably benign Het
Scara3 T C 14: 66,168,720 (GRCm39) D299G probably benign Het
Scube1 C A 15: 83,499,080 (GRCm39) E712* probably null Het
Setd4 T A 16: 93,388,009 (GRCm39) E159V probably benign Het
Slc15a2 T A 16: 36,572,672 (GRCm39) I670F possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Snx18 G A 13: 113,754,732 (GRCm39) P67L probably benign Het
St3gal5 A T 6: 72,119,301 (GRCm39) K165* probably null Het
Sun5 A G 2: 153,700,365 (GRCm39) I294T probably benign Het
Svil A G 18: 5,037,155 (GRCm39) K37E probably benign Het
Tmem104 T C 11: 115,134,691 (GRCm39) I409T probably benign Het
Tnxb T C 17: 34,917,294 (GRCm39) Y2230H possibly damaging Het
Trps1 A G 15: 50,524,676 (GRCm39) S1085P probably damaging Het
Ttn A T 2: 76,612,592 (GRCm39) N17162K probably damaging Het
Ugt1a7c T A 1: 88,023,616 (GRCm39) F258L probably damaging Het
Vmn2r102 C T 17: 19,897,614 (GRCm39) H210Y probably benign Het
Vmn2r75 A T 7: 85,815,423 (GRCm39) V147E probably benign Het
Zhx3 G A 2: 160,621,785 (GRCm39) A794V probably benign Het
Zscan2 A G 7: 80,525,331 (GRCm39) T351A probably benign Het
Other mutations in Or5ak23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Or5ak23 APN 2 85,244,537 (GRCm39) missense probably benign 0.05
IGL03209:Or5ak23 APN 2 85,244,723 (GRCm39) missense probably benign 0.05
BB001:Or5ak23 UTSW 2 85,244,563 (GRCm39) missense probably benign 0.06
BB011:Or5ak23 UTSW 2 85,244,563 (GRCm39) missense probably benign 0.06
R0591:Or5ak23 UTSW 2 85,245,034 (GRCm39) missense possibly damaging 0.95
R1437:Or5ak23 UTSW 2 85,245,218 (GRCm39) missense probably benign 0.01
R1836:Or5ak23 UTSW 2 85,244,749 (GRCm39) missense probably benign 0.36
R2084:Or5ak23 UTSW 2 85,244,959 (GRCm39) missense probably benign 0.01
R2902:Or5ak23 UTSW 2 85,244,396 (GRCm39) missense possibly damaging 0.79
R2910:Or5ak23 UTSW 2 85,244,695 (GRCm39) missense probably damaging 1.00
R3961:Or5ak23 UTSW 2 85,245,216 (GRCm39) missense possibly damaging 0.69
R4542:Or5ak23 UTSW 2 85,244,287 (GRCm39) missense probably benign
R4635:Or5ak23 UTSW 2 85,245,208 (GRCm39) missense probably damaging 1.00
R5464:Or5ak23 UTSW 2 85,245,057 (GRCm39) frame shift probably null
R5980:Or5ak23 UTSW 2 85,244,509 (GRCm39) missense probably damaging 1.00
R6139:Or5ak23 UTSW 2 85,244,690 (GRCm39) missense probably damaging 1.00
R6356:Or5ak23 UTSW 2 85,245,031 (GRCm39) missense probably damaging 1.00
R6619:Or5ak23 UTSW 2 85,244,425 (GRCm39) missense probably benign 0.05
R6672:Or5ak23 UTSW 2 85,244,948 (GRCm39) missense possibly damaging 0.87
R7326:Or5ak23 UTSW 2 85,244,788 (GRCm39) missense probably damaging 0.99
R7328:Or5ak23 UTSW 2 85,244,668 (GRCm39) missense probably benign 0.32
R7569:Or5ak23 UTSW 2 85,244,479 (GRCm39) missense probably damaging 1.00
R7924:Or5ak23 UTSW 2 85,244,563 (GRCm39) missense probably benign 0.06
R9178:Or5ak23 UTSW 2 85,244,848 (GRCm39) missense probably damaging 1.00
Z1176:Or5ak23 UTSW 2 85,245,029 (GRCm39) missense possibly damaging 0.90
Z1176:Or5ak23 UTSW 2 85,245,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTACCATCTGGATGCAGAC -3'
(R):5'- CTCCTGGGATTTGGAGTCCAAC -3'

Sequencing Primer
(F):5'- TACCATCTGGATGCAGACTTTTCGG -3'
(R):5'- GGAGTCCAACATGATATTCAGTG -3'
Posted On 2022-04-18