Incidental Mutation 'IGL01991:Olfr524'
ID 279266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr524
Ensembl Gene ENSMUSG00000050366
Gene Name olfactory receptor 524
Synonyms GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01991
Quality Score
Status
Chromosome 7
Chromosomal Location 140198499-140205964 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140202432 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 113 (E113K)
Ref Sequence ENSEMBL: ENSMUSP00000150970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051943] [ENSMUST00000215815]
AlphaFold Q7TRU0
Predicted Effect probably damaging
Transcript: ENSMUST00000051943
AA Change: E113K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: E113K

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 7.5e-56 PFAM
Pfam:7tm_1 42 292 6.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215815
AA Change: E113K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,953,110 F145I probably benign Het
Acot7 A G 4: 152,223,079 K152E possibly damaging Het
Adamts13 G T 2: 26,990,598 G731V probably damaging Het
Als2cl C T 9: 110,892,917 R584C probably benign Het
Apba1 T A 19: 23,937,472 S679T possibly damaging Het
Asxl3 G A 18: 22,516,162 V403I probably damaging Het
Card11 T C 5: 140,913,378 T14A possibly damaging Het
Creb1 T C 1: 64,559,754 F97L probably benign Het
Crispld1 T A 1: 17,753,017 H407Q probably benign Het
Crtac1 A T 19: 42,414,121 L16Q possibly damaging Het
Cyp2c29 T C 19: 39,330,315 I452T probably damaging Het
Dennd5b A T 6: 149,080,824 D95E probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Gm6878 G A 14: 67,306,229 probably benign Het
Gm7682 A T 5: 94,445,846 Q10L probably benign Het
Greb1 T C 12: 16,699,681 Y1048C probably damaging Het
Iqcc T A 4: 129,617,789 E105V probably benign Het
Lhx8 A G 3: 154,324,554 L116P probably damaging Het
Lrrk2 A G 15: 91,779,946 D1962G probably damaging Het
Map1b T A 13: 99,429,569 M2215L unknown Het
Mapk8ip3 A T 17: 24,927,861 L136Q possibly damaging Het
Mical3 T C 6: 120,935,211 N1896D probably damaging Het
Mprip A G 11: 59,755,012 E674G probably damaging Het
Olfr1045 T C 2: 86,198,533 N73S probably benign Het
Pdzrn4 T A 15: 92,401,926 probably null Het
Prom1 T C 5: 44,047,506 T209A probably benign Het
Prom2 C A 2: 127,529,222 C785F probably damaging Het
Psg20 T C 7: 18,684,425 Q139R probably benign Het
Rapgef6 T A 11: 54,552,869 C93S probably benign Het
Rassf2 C T 2: 132,000,432 probably null Het
Scn11a A G 9: 119,819,904 I31T probably damaging Het
Slc4a5 A T 6: 83,263,543 D164V possibly damaging Het
Slco3a1 T C 7: 74,284,396 D676G possibly damaging Het
Tmcc2 T C 1: 132,361,092 I208V probably benign Het
Traf4 T C 11: 78,160,046 D428G possibly damaging Het
Trio T C 15: 27,871,274 I586V possibly damaging Het
Unc80 T A 1: 66,469,509 C46* probably null Het
Vmn2r89 A G 14: 51,452,219 N60D probably benign Het
Wscd1 A T 11: 71,787,723 K391* probably null Het
Wwc2 A T 8: 47,869,866 L400* probably null Het
Other mutations in Olfr524
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Olfr524 APN 7 140202432 missense probably damaging 1.00
IGL02005:Olfr524 APN 7 140202432 missense probably damaging 1.00
IGL02030:Olfr524 APN 7 140202632 missense probably damaging 0.97
IGL02474:Olfr524 APN 7 140202587 missense probably damaging 1.00
H8441:Olfr524 UTSW 7 140201958 missense possibly damaging 0.81
R0426:Olfr524 UTSW 7 140202116 missense possibly damaging 0.81
R0704:Olfr524 UTSW 7 140202635 missense probably benign 0.00
R0891:Olfr524 UTSW 7 140202459 missense probably damaging 1.00
R1624:Olfr524 UTSW 7 140201951 missense probably damaging 0.96
R1865:Olfr524 UTSW 7 140202372 missense probably damaging 1.00
R1938:Olfr524 UTSW 7 140202231 missense probably benign 0.30
R2105:Olfr524 UTSW 7 140202743 missense probably benign 0.02
R3009:Olfr524 UTSW 7 140202756 missense probably benign
R3546:Olfr524 UTSW 7 140202101 missense probably damaging 1.00
R4849:Olfr524 UTSW 7 140202427 nonsense probably null
R5009:Olfr524 UTSW 7 140201838 missense probably benign
R5105:Olfr524 UTSW 7 140202549 missense probably damaging 1.00
R5413:Olfr524 UTSW 7 140202722 missense possibly damaging 0.94
R5422:Olfr524 UTSW 7 140202392 missense probably damaging 1.00
R7314:Olfr524 UTSW 7 140202413 missense probably damaging 0.99
R7338:Olfr524 UTSW 7 140202533 missense probably benign 0.01
R7921:Olfr524 UTSW 7 140202299 missense probably damaging 1.00
R8438:Olfr524 UTSW 7 140202257 missense probably damaging 1.00
R9261:Olfr524 UTSW 7 140202650 missense probably benign 0.29
V1662:Olfr524 UTSW 7 140201958 missense possibly damaging 0.81
Posted On 2015-04-16