Incidental Mutation 'IGL01461:Olfr1204'
ID87975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1204
Ensembl Gene ENSMUSG00000061798
Gene Nameolfactory receptor 1204
SynonymsGA_x6K02T2Q125-50322618-50323547, MOR232-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01461
Quality Score
Status
Chromosome2
Chromosomal Location88849292-88857920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88852325 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 125 (C125F)
Ref Sequence ENSEMBL: ENSMUSP00000150111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078631] [ENSMUST00000213283]
Predicted Effect probably damaging
Transcript: ENSMUST00000078631
AA Change: C125F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077701
Gene: ENSMUSG00000061798
AA Change: C125F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 1.8e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213283
AA Change: C125F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Cryaa A G 17: 31,681,026 Y118C probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ing1 T G 8: 11,561,453 F22V probably benign Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kdelc1 T C 1: 44,110,934 Q365R probably damaging Het
Kel A C 6: 41,701,911 probably null Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Miga1 C T 3: 152,335,297 E78K probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in Olfr1204
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1583:Olfr1204 UTSW 2 88852262 missense probably damaging 1.00
R2151:Olfr1204 UTSW 2 88852784 missense probably damaging 1.00
R2153:Olfr1204 UTSW 2 88852784 missense probably damaging 1.00
R4959:Olfr1204 UTSW 2 88852172 missense possibly damaging 0.79
R4973:Olfr1204 UTSW 2 88852172 missense possibly damaging 0.79
R5048:Olfr1204 UTSW 2 88852463 missense possibly damaging 0.91
R5164:Olfr1204 UTSW 2 88852570 missense probably benign 0.30
R5319:Olfr1204 UTSW 2 88852778 missense probably damaging 0.99
R5399:Olfr1204 UTSW 2 88852655 missense probably damaging 1.00
R5688:Olfr1204 UTSW 2 88852679 missense probably benign 0.07
R6339:Olfr1204 UTSW 2 88852871 missense probably null
R6481:Olfr1204 UTSW 2 88852519 missense probably damaging 1.00
R7456:Olfr1204 UTSW 2 88852219 missense probably damaging 0.99
R7469:Olfr1204 UTSW 2 88852503 missense probably benign
Posted On2013-11-18