Incidental Mutation 'R6132:Or5ak24'
ID 487164
Institutional Source Beutler Lab
Gene Symbol Or5ak24
Ensembl Gene ENSMUSG00000075219
Gene Name olfactory receptor family 5 subfamily AK member 24
Synonyms MOR203-4, GA_x6K02T2Q125-46907515-46906571, Olfr994
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85260227-85266537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85260490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 228 (S228T)
Ref Sequence ENSEMBL: ENSMUSP00000149417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099925] [ENSMUST00000214679] [ENSMUST00000217218]
AlphaFold Q8VF73
Predicted Effect probably benign
Transcript: ENSMUST00000099925
AA Change: S228T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: S228T

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 5.1e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 302 3.5e-5 PFAM
Pfam:7tm_1 41 289 8.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214679
AA Change: S228T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215758
Predicted Effect probably benign
Transcript: ENSMUST00000217218
AA Change: S228T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.3230 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in Or5ak24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Or5ak24 APN 2 85,260,484 (GRCm39) missense probably benign 0.00
IGL01325:Or5ak24 APN 2 85,260,639 (GRCm39) missense possibly damaging 0.60
IGL01634:Or5ak24 APN 2 85,260,783 (GRCm39) missense probably damaging 1.00
IGL01809:Or5ak24 APN 2 85,260,498 (GRCm39) missense probably damaging 1.00
IGL02586:Or5ak24 APN 2 85,260,810 (GRCm39) missense possibly damaging 0.80
IGL02711:Or5ak24 APN 2 85,261,083 (GRCm39) missense probably damaging 0.97
R0010:Or5ak24 UTSW 2 85,260,239 (GRCm39) missense probably benign
R0578:Or5ak24 UTSW 2 85,261,017 (GRCm39) missense probably benign 0.03
R0848:Or5ak24 UTSW 2 85,260,365 (GRCm39) missense probably benign 0.03
R1844:Or5ak24 UTSW 2 85,260,265 (GRCm39) missense probably benign 0.03
R1912:Or5ak24 UTSW 2 85,260,604 (GRCm39) missense probably damaging 0.97
R1959:Or5ak24 UTSW 2 85,260,963 (GRCm39) missense probably damaging 1.00
R2014:Or5ak24 UTSW 2 85,260,696 (GRCm39) missense possibly damaging 0.89
R2113:Or5ak24 UTSW 2 85,260,430 (GRCm39) missense probably damaging 1.00
R2290:Or5ak24 UTSW 2 85,260,544 (GRCm39) missense possibly damaging 0.64
R3622:Or5ak24 UTSW 2 85,260,837 (GRCm39) missense probably benign 0.12
R3918:Or5ak24 UTSW 2 85,261,074 (GRCm39) missense possibly damaging 0.64
R4175:Or5ak24 UTSW 2 85,260,962 (GRCm39) missense probably damaging 1.00
R4945:Or5ak24 UTSW 2 85,260,895 (GRCm39) missense probably benign 0.03
R6439:Or5ak24 UTSW 2 85,261,068 (GRCm39) missense probably damaging 1.00
R6713:Or5ak24 UTSW 2 85,260,883 (GRCm39) missense probably damaging 1.00
R7065:Or5ak24 UTSW 2 85,260,523 (GRCm39) missense probably damaging 1.00
R7089:Or5ak24 UTSW 2 85,260,902 (GRCm39) missense probably benign 0.00
R7467:Or5ak24 UTSW 2 85,261,171 (GRCm39) start codon destroyed possibly damaging 0.90
R8006:Or5ak24 UTSW 2 85,260,318 (GRCm39) missense probably damaging 1.00
R8021:Or5ak24 UTSW 2 85,260,996 (GRCm39) missense probably damaging 0.98
R8302:Or5ak24 UTSW 2 85,260,430 (GRCm39) missense possibly damaging 0.74
R8468:Or5ak24 UTSW 2 85,260,522 (GRCm39) missense probably damaging 1.00
R9085:Or5ak24 UTSW 2 85,260,619 (GRCm39) missense probably benign 0.00
R9407:Or5ak24 UTSW 2 85,261,060 (GRCm39) missense probably damaging 0.98
R9559:Or5ak24 UTSW 2 85,260,753 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TAGCATGGGAATCACAATGCC -3'
(R):5'- TCGGCAAGTCTGTGTTCAG -3'

Sequencing Primer
(F):5'- TGGGAATCACAATGCCATAAAAC -3'
(R):5'- ACTGTCCTTCTGTGCATCAAAAATC -3'
Posted On 2017-10-10