Incidental Mutation 'IGL02491:Olfr521'
ID295641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr521
Ensembl Gene ENSMUSG00000073997
Gene Nameolfactory receptor 521
SynonymsMOR101-2, GA_x6K02T2PBJ9-2443810-2444775
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL02491
Quality Score
Status
Chromosome7
Chromosomal Location99763507-99769321 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99767333 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 57 (E57G)
Ref Sequence ENSEMBL: ENSMUSP00000151473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098263] [ENSMUST00000219663] [ENSMUST00000220001]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098263
AA Change: E57G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095863
Gene: ENSMUSG00000073997
AA Change: E57G

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.4e-63 PFAM
Pfam:7TM_GPCR_Srsx 40 310 7.4e-6 PFAM
Pfam:7tm_1 46 309 2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219663
AA Change: E57G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220001
AA Change: E57G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,095 Y130H probably benign Het
Abca6 T C 11: 110,176,968 probably benign Het
Acacb T A 5: 114,192,105 I443N probably damaging Het
C1qtnf3 A T 15: 10,971,981 I118F possibly damaging Het
Carmil3 C T 14: 55,504,517 A1148V probably benign Het
Ccdc62 A T 5: 123,961,315 S677C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col11a2 C A 17: 34,064,207 probably benign Het
Cpsf7 A G 19: 10,539,637 I368V possibly damaging Het
Csmd2 T C 4: 128,534,257 S2934P probably benign Het
Csmd3 A G 15: 47,914,115 probably benign Het
Cubn A G 2: 13,321,228 Y2709H probably damaging Het
Cyp2d12 T A 15: 82,558,481 L375Q possibly damaging Het
Etv4 A T 11: 101,783,965 probably null Het
Exph5 T A 9: 53,375,043 D1141E possibly damaging Het
Fbxo16 T A 14: 65,321,287 H298Q probably benign Het
Fbxw21 T A 9: 109,143,819 Y349F probably benign Het
Foxs1 G A 2: 152,932,801 R111C probably damaging Het
Galnt15 T A 14: 32,056,316 L436Q probably damaging Het
Gbf1 T C 19: 46,262,540 probably benign Het
Gm8237 A T 14: 5,863,577 C29* probably null Het
Hcn1 A G 13: 117,810,040 D317G unknown Het
Itgam A G 7: 128,116,018 N877D possibly damaging Het
Kcnma1 T C 14: 23,311,689 R1047G probably damaging Het
Klhdc3 T C 17: 46,677,300 R180G possibly damaging Het
Lpcat2 T C 8: 92,874,251 V241A probably damaging Het
Mnat1 A G 12: 73,123,908 N24S probably null Het
Mprip A G 11: 59,770,031 T967A probably benign Het
Mtf1 T C 4: 124,838,579 F477L probably benign Het
Naaladl1 A G 19: 6,109,718 E393G possibly damaging Het
Olfr1328 A T 4: 118,934,161 L229H probably damaging Het
Olfr513 A G 7: 108,755,114 K86R probably damaging Het
Pcdhb6 A T 18: 37,335,682 D552V probably damaging Het
Pglyrp3 C T 3: 92,014,637 S4F possibly damaging Het
Pramef12 A T 4: 144,394,752 M234K probably damaging Het
Prss27 A T 17: 24,044,255 probably benign Het
Slc5a9 A G 4: 111,896,352 S51P probably damaging Het
Slc6a4 A G 11: 77,027,208 Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 V417D probably damaging Het
Syne2 A G 12: 76,072,179 T5857A probably benign Het
Thap1 A C 8: 26,160,857 S52R probably damaging Het
Thsd4 T C 9: 60,000,018 N158S probably damaging Het
Tmem147 A T 7: 30,728,201 probably benign Het
Trdmt1 G A 2: 13,516,672 A311V probably benign Het
U2surp T A 9: 95,490,220 R296S probably damaging Het
Upf2 A G 2: 6,026,164 D805G unknown Het
Usp34 T A 11: 23,432,630 H2057Q probably damaging Het
Vmn2r110 T A 17: 20,596,138 D41V probably damaging Het
Vmn2r16 T A 5: 109,339,837 L192* probably null Het
Vnn3 T A 10: 23,865,918 S374T probably benign Het
Wdr62 A C 7: 30,242,759 D1089E probably benign Het
Xdh T A 17: 73,886,464 D1279V probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518b A G 5: 38,673,780 I294T possibly damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Olfr521
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Olfr521 APN 7 99767972 missense possibly damaging 0.73
R0544:Olfr521 UTSW 7 99767660 missense probably benign
R1029:Olfr521 UTSW 7 99767224 missense probably benign 0.01
R1840:Olfr521 UTSW 7 99767596 missense probably benign 0.37
R4709:Olfr521 UTSW 7 99767782 missense probably damaging 1.00
R5215:Olfr521 UTSW 7 99767510 missense probably damaging 1.00
R5752:Olfr521 UTSW 7 99767948 missense probably benign 0.00
R5934:Olfr521 UTSW 7 99767389 missense probably damaging 1.00
R6913:Olfr521 UTSW 7 99767717 missense probably damaging 1.00
R7394:Olfr521 UTSW 7 99767346 missense probably damaging 1.00
Posted On2015-04-16