Incidental Mutation 'R6672:Or5ak23'
ID 527156
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 044792-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R6672 (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 85244948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 92 (I92L)
Ref Sequence ENSEMBL: ENSMUSP00000097510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099926]
AlphaFold Q8VF75
Predicted Effect possibly damaging
Transcript: ENSMUST00000099926
AA Change: I92L

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: I92L

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (31/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap C T 7: 26,903,489 (GRCm39) probably benign Het
Adam24 A G 8: 41,134,572 (GRCm39) E680G probably benign Het
Adam7 T A 14: 68,742,151 (GRCm39) probably null Het
Arid2 C T 15: 96,260,226 (GRCm39) T351I probably benign Het
Asz1 T A 6: 18,075,817 (GRCm39) E252V possibly damaging Het
Chrm5 C T 2: 112,310,141 (GRCm39) C325Y probably benign Het
Cimap1a A G 7: 140,428,340 (GRCm39) S25G probably benign Het
Cyp2c65 A G 19: 39,076,118 (GRCm39) R357G probably damaging Het
Dhx36 A G 3: 62,402,957 (GRCm39) V265A probably damaging Het
Dhx36 T A 3: 62,408,300 (GRCm39) E179D probably benign Het
Dip2c G A 13: 9,617,866 (GRCm39) probably null Het
Dock10 A T 1: 80,490,248 (GRCm39) M1958K probably benign Het
Dpf1 T C 7: 29,015,693 (GRCm39) C357R probably damaging Het
Dync1h1 C T 12: 110,624,568 (GRCm39) R3703C probably damaging Het
Eef1g A G 19: 8,944,411 (GRCm39) probably null Het
Gnl2 T C 4: 124,942,186 (GRCm39) V397A probably damaging Het
Gramd2b A G 18: 56,565,408 (GRCm39) E21G possibly damaging Het
Grik3 C A 4: 125,517,309 (GRCm39) Q51K probably benign Het
Hectd2 G T 19: 36,564,780 (GRCm39) Q20H probably damaging Het
Krtap5-1 A G 7: 141,850,233 (GRCm39) C192R unknown Het
Lrpap1 A T 5: 35,256,577 (GRCm39) M135K probably benign Het
Lrrc9 G A 12: 72,520,710 (GRCm39) R664H possibly damaging Het
Mef2c T G 13: 83,800,975 (GRCm39) V225G probably damaging Het
Nlrp9b T C 7: 19,753,263 (GRCm39) L56P probably damaging Het
Nup133 T C 8: 124,643,020 (GRCm39) probably null Het
Or12j4 G A 7: 140,046,648 (GRCm39) C178Y probably damaging Het
Ppp1r3d T C 2: 178,055,552 (GRCm39) E150G possibly damaging Het
Smpd1 A G 7: 105,204,480 (GRCm39) M120V probably benign Het
Zbtb46 A G 2: 181,053,629 (GRCm39) L361P probably benign Het
Zfp605 A G 5: 110,275,863 (GRCm39) H327R probably damaging 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
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
R9363:Or5ak23 UTSW 2 85,244,993 (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'- GAGATAGGAGCCAGCTACCATC -3'
(R):5'- TGGAGTCCAACATGATATTCAGTG -3'

Sequencing Primer
(F):5'- GCTACCATCTGGATGCAGAC -3'
(R):5'- GTCCAACATGATATTCAGTGTTTCC -3'
Posted On 2018-07-23