Incidental Mutation 'R7530:Or8k24'
ID 583245
Institutional Source Beutler Lab
Gene Symbol Or8k24
Ensembl Gene ENSMUSG00000075186
Gene Name olfactory receptor family 8 subfamily K member 24
Synonyms MOR190-2, Olfr1058, GA_x6K02T2Q125-47855818-47854868
MMRRC Submission 045602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R7530 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86215810-86216760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86216515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 82 (L82F)
Ref Sequence ENSEMBL: ENSMUSP00000151037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102631] [ENSMUST00000213998]
AlphaFold Q7TR74
Predicted Effect probably damaging
Transcript: ENSMUST00000102631
AA Change: L82F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: L82F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-49 PFAM
Pfam:7tm_1 41 290 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213998
AA Change: L82F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (52/53)
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
6430550D23Rik C T 2: 155,845,840 (GRCm39) V6I probably benign Het
Atp10a A G 7: 58,423,724 (GRCm39) T230A probably benign Het
Atp5mc2 A T 15: 102,576,183 (GRCm39) M1K probably null Het
Atp8a1 A C 5: 67,902,971 (GRCm39) L535R Het
Bsn A G 9: 107,989,155 (GRCm39) I2199T probably damaging Het
Ccdc73 A G 2: 104,824,915 (GRCm39) T155A Het
Cdc42bpg T G 19: 6,372,305 (GRCm39) F1430L probably benign Het
Cdc42bpg G T 19: 6,372,306 (GRCm39) V1431L probably benign Het
Chat A T 14: 32,130,915 (GRCm39) Y575* probably null Het
Cimip4 T C 15: 78,270,516 (GRCm39) D84G probably benign Het
Col6a4 A T 9: 105,945,589 (GRCm39) C842S probably damaging Het
Coq2 T C 5: 100,822,008 (GRCm39) S34G probably benign Het
Crybg1 C T 10: 43,875,069 (GRCm39) A680T possibly damaging Het
Ctsr T A 13: 61,310,931 (GRCm39) K38N probably damaging Het
Dpm2 T C 2: 32,462,313 (GRCm39) F33S probably damaging Het
Ecpas A G 4: 58,815,317 (GRCm39) M1322T probably damaging Het
Ext2 T A 2: 93,491,998 (GRCm39) H564L probably benign Het
Fbxl2 G T 9: 113,818,241 (GRCm39) H202N probably benign Het
Fra10ac1 A T 19: 38,204,353 (GRCm39) Y74* probably null Het
Greb1 T A 12: 16,767,207 (GRCm39) I332F probably benign Het
Ifnar2 A G 16: 91,201,201 (GRCm39) S481G probably benign Het
Igkv9-123 G A 6: 67,931,381 (GRCm39) P62S possibly damaging Het
Iqub T C 6: 24,450,622 (GRCm39) Q659R probably benign Het
Kansl2 T C 15: 98,426,896 (GRCm39) T242A probably benign Het
Kif28 C T 1: 179,536,045 (GRCm39) G543D probably benign Het
Lsg1 A G 16: 30,401,419 (GRCm39) S93P possibly damaging Het
Med23 T A 10: 24,781,851 (GRCm39) C1052S probably benign Het
Mgam G T 6: 40,686,152 (GRCm39) probably null Het
Mtmr4 C T 11: 87,502,702 (GRCm39) R919W probably damaging Het
Muc5ac G T 7: 141,367,536 (GRCm39) V2986L possibly damaging Het
Myo5b A G 18: 74,864,802 (GRCm39) E1340G probably benign Het
Nkd2 T C 13: 73,995,078 (GRCm39) D40G possibly damaging Het
Nudt5 T C 2: 5,869,179 (GRCm39) L135S probably damaging Het
Oca2 A C 7: 55,981,720 (GRCm39) D614A probably damaging Het
Or1e16 A G 11: 73,279,189 (GRCm39) V221A possibly damaging Het
Or6c201 A C 10: 128,969,849 (GRCm39) probably null Het
Plec C A 15: 76,069,844 (GRCm39) A991S unknown Het
Plekhg2 G A 7: 28,061,353 (GRCm39) R817C probably damaging Het
Plrg1 T A 3: 82,965,989 (GRCm39) L48H probably damaging Het
Prx A G 7: 27,207,397 (GRCm39) E18G probably damaging Het
Ptprf T C 4: 118,069,945 (GRCm39) Y1479C probably damaging Het
Rap1b A T 10: 117,653,357 (GRCm39) Y159* probably null Het
Rbck1 T C 2: 152,166,212 (GRCm39) E242G possibly damaging Het
Rxfp1 T C 3: 79,557,768 (GRCm39) D570G probably benign Het
Slc35f5 G T 1: 125,512,275 (GRCm39) L358F probably damaging Het
Smarcd2 A G 11: 106,156,587 (GRCm39) W274R probably damaging Het
Spata6l A T 19: 28,926,121 (GRCm39) Y43* probably null Het
Ssu72 A G 4: 155,815,786 (GRCm39) T77A probably benign Het
Tomm40 G A 7: 19,436,829 (GRCm39) T297I possibly damaging Het
Urb1 A T 16: 90,558,522 (GRCm39) I1743N probably damaging Het
Utp20 G A 10: 88,588,868 (GRCm39) R2434C probably damaging Het
Other mutations in Or8k24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Or8k24 APN 2 86,216,365 (GRCm39) nonsense probably null
R0413:Or8k24 UTSW 2 86,216,058 (GRCm39) missense probably benign 0.02
R1315:Or8k24 UTSW 2 86,216,518 (GRCm39) missense possibly damaging 0.86
R1609:Or8k24 UTSW 2 86,215,838 (GRCm39) missense probably benign 0.07
R1951:Or8k24 UTSW 2 86,215,855 (GRCm39) missense probably benign 0.03
R2184:Or8k24 UTSW 2 86,216,489 (GRCm39) missense probably benign 0.05
R2351:Or8k24 UTSW 2 86,216,471 (GRCm39) missense probably damaging 0.99
R4067:Or8k24 UTSW 2 86,216,431 (GRCm39) nonsense probably null
R4706:Or8k24 UTSW 2 86,216,732 (GRCm39) missense probably benign 0.29
R5164:Or8k24 UTSW 2 86,215,815 (GRCm39) missense probably benign
R5224:Or8k24 UTSW 2 86,216,193 (GRCm39) missense possibly damaging 0.91
R5254:Or8k24 UTSW 2 86,216,484 (GRCm39) missense possibly damaging 0.65
R5424:Or8k24 UTSW 2 86,216,184 (GRCm39) nonsense probably null
R5907:Or8k24 UTSW 2 86,216,218 (GRCm39) missense probably damaging 0.97
R5980:Or8k24 UTSW 2 86,216,141 (GRCm39) nonsense probably null
R6348:Or8k24 UTSW 2 86,216,513 (GRCm39) missense probably benign
R6874:Or8k24 UTSW 2 86,215,872 (GRCm39) missense possibly damaging 0.95
R6897:Or8k24 UTSW 2 86,216,024 (GRCm39) missense possibly damaging 0.91
R7060:Or8k24 UTSW 2 86,216,569 (GRCm39) missense possibly damaging 0.95
R7516:Or8k24 UTSW 2 86,216,328 (GRCm39) missense probably benign 0.35
R8130:Or8k24 UTSW 2 86,215,911 (GRCm39) missense probably benign 0.14
R9147:Or8k24 UTSW 2 86,216,324 (GRCm39) missense probably benign 0.00
R9148:Or8k24 UTSW 2 86,216,324 (GRCm39) missense probably benign 0.00
Z1088:Or8k24 UTSW 2 86,216,523 (GRCm39) missense probably damaging 1.00
Z1088:Or8k24 UTSW 2 86,216,100 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- AAGAGCCACAATTGTACAGTAGAC -3'
(R):5'- AACTGCAGCCTCCATTATTTGTAC -3'

Sequencing Primer
(F):5'- GCACCAAGCATAGTCTTTTTGAC -3'
(R):5'- GCAGCCTCCATTATTTGTACTTTTC -3'
Posted On 2019-10-17