Incidental Mutation 'IGL02706:Olfr353'
ID304330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr353
Ensembl Gene ENSMUSG00000075382
Gene Nameolfactory receptor 353
SynonymsGA_x6K02T2NLDC-33585366-33584431, MOR127-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL02706
Quality Score
Status
Chromosome2
Chromosomal Location36887293-36892936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36890719 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 43 (I43T)
Ref Sequence ENSEMBL: ENSMUSP00000149378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100149] [ENSMUST00000215925] [ENSMUST00000217215]
Predicted Effect probably damaging
Transcript: ENSMUST00000100149
AA Change: I43T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097726
Gene: ENSMUSG00000075382
AA Change: I43T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-56 PFAM
Pfam:7tm_1 39 288 3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215925
AA Change: I43T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217215
AA Change: I43T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,298,992 E781G probably benign Het
Abcc8 C T 7: 46,166,921 R265Q probably benign Het
Agtr1b A T 3: 20,315,863 I193N probably benign Het
Atp6v1e2 A G 17: 86,944,934 I12T probably damaging Het
Cacna1g T C 11: 94,456,992 T757A probably damaging Het
Cldn15 A G 5: 136,974,831 K200R probably benign Het
Dip2b G T 15: 100,215,311 V1302F probably damaging Het
Dnajb6 T A 5: 29,752,423 Y68N probably damaging Het
Dok1 T A 6: 83,032,334 E179V probably damaging Het
Epha4 T C 1: 77,426,845 T342A probably damaging Het
Etf1 A T 18: 34,931,637 S6R possibly damaging Het
Fryl T C 5: 73,093,163 I987V probably benign Het
Gba2 C T 4: 43,567,257 G897S probably benign Het
Habp2 G T 19: 56,310,138 probably null Het
Hapln1 G T 13: 89,605,459 S248I possibly damaging Het
Hydin A G 8: 110,410,566 D667G probably damaging Het
Kcnma1 T A 14: 23,309,154 H1074L probably damaging Het
Kctd9 T C 14: 67,724,681 probably null Het
L3mbtl4 A G 17: 68,486,919 D306G probably damaging Het
Lgalsl T C 11: 20,830,090 R49G probably damaging Het
Lpo C T 11: 87,817,773 S133N probably benign Het
Lrp8 A T 4: 107,803,319 R59* probably null Het
Mctp1 T C 13: 76,823,069 F629S probably damaging Het
Med1 A G 11: 98,156,707 probably benign Het
Nbea T C 3: 56,037,278 H555R probably damaging Het
Nedd1 T C 10: 92,686,285 H630R possibly damaging Het
Nr3c2 A T 8: 76,908,416 probably null Het
Nubp2 A T 17: 24,883,197 V267E probably benign Het
Oacyl A T 18: 65,749,721 Y629F probably damaging Het
Olfr1475 A T 19: 13,480,098 Y33* probably null Het
Olfr54 T A 11: 51,027,264 H87Q probably damaging Het
Pknox2 T C 9: 36,936,379 H114R probably benign Het
Ppp2r1b A G 9: 50,878,834 D564G possibly damaging Het
Ppp3ca T G 3: 136,905,318 N367K possibly damaging Het
Ptprn2 T C 12: 116,888,898 V525A probably damaging Het
Reps1 T G 10: 18,123,015 probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sipa1l1 A G 12: 82,397,433 I973V possibly damaging Het
Ssh2 T A 11: 77,453,406 V739D possibly damaging Het
Tbc1d24 A G 17: 24,185,421 F250L probably benign Het
Ube3a T A 7: 59,272,133 H84Q possibly damaging Het
Usp34 T C 11: 23,388,659 probably benign Het
Zdhhc8 G T 16: 18,224,894 L481I probably damaging Het
Zfp574 A G 7: 25,081,365 H604R probably damaging Het
Zfp945 A T 17: 22,857,282 M63K probably damaging Het
Other mutations in Olfr353
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Olfr353 APN 2 36890788 missense possibly damaging 0.83
R0101:Olfr353 UTSW 2 36890126 missense probably damaging 1.00
R0118:Olfr353 UTSW 2 36890023 missense probably benign 0.07
R0276:Olfr353 UTSW 2 36890023 missense probably benign 0.26
R0944:Olfr353 UTSW 2 36890686 missense probably damaging 1.00
R0975:Olfr353 UTSW 2 36890550 missense possibly damaging 0.52
R1895:Olfr353 UTSW 2 36890446 missense possibly damaging 0.92
R1946:Olfr353 UTSW 2 36890446 missense possibly damaging 0.92
R2847:Olfr353 UTSW 2 36890524 missense probably damaging 1.00
R4573:Olfr353 UTSW 2 36890190 missense probably damaging 1.00
R4631:Olfr353 UTSW 2 36890618 missense probably benign 0.01
R4647:Olfr353 UTSW 2 36890651 missense probably benign 0.00
R4918:Olfr353 UTSW 2 36890332 missense probably damaging 0.98
R4967:Olfr353 UTSW 2 36890707 missense probably damaging 1.00
R5102:Olfr353 UTSW 2 36890044 missense possibly damaging 0.87
R5188:Olfr353 UTSW 2 36890393 missense probably benign
R5392:Olfr353 UTSW 2 36890674 missense probably benign 0.34
R5608:Olfr353 UTSW 2 36890515 missense probably damaging 1.00
R6527:Olfr353 UTSW 2 36890582 missense probably benign 0.02
R8508:Olfr353 UTSW 2 36890354 missense probably damaging 1.00
X0017:Olfr353 UTSW 2 36889987 missense probably damaging 1.00
Posted On2015-04-16