Incidental Mutation 'IGL01972:Olfr429'
ID181657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr429
Ensembl Gene ENSMUSG00000049528
Gene Nameolfactory receptor 429
SynonymsMOR105-1, GA_x6K02T2P20D-21090094-21089156
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01972
Quality Score
Status
Chromosome1
Chromosomal Location174084331-174091343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 174089421 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 127 (C127F)
Ref Sequence ENSEMBL: ENSMUSP00000149257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060693] [ENSMUST00000216346]
Predicted Effect probably damaging
Transcript: ENSMUST00000060693
AA Change: C127F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051323
Gene: ENSMUSG00000049528
AA Change: C127F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-65 PFAM
Pfam:7tm_1 41 290 1.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193320
AA Change: C127F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142323
Gene: ENSMUSG00000049528
AA Change: C127F

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:7tm_1 41 290 8.9e-31 PFAM
Pfam:7tm_4 139 283 6.7e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216346
AA Change: C127F

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Olfr429
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Olfr429 APN 1 174089556 missense probably damaging 1.00
IGL01868:Olfr429 APN 1 174089370 missense possibly damaging 0.83
IGL02412:Olfr429 APN 1 174089243 missense probably benign 0.00
IGL02628:Olfr429 APN 1 174089190 missense probably benign
IGL02861:Olfr429 APN 1 174089036 utr 5 prime probably benign
IGL03404:Olfr429 APN 1 174089898 missense probably damaging 1.00
R0267:Olfr429 UTSW 1 174089166 missense probably damaging 1.00
R0357:Olfr429 UTSW 1 174089109 missense possibly damaging 0.71
R1499:Olfr429 UTSW 1 174089247 nonsense probably null
R2051:Olfr429 UTSW 1 174089219 missense possibly damaging 0.95
R4706:Olfr429 UTSW 1 174089702 missense probably damaging 1.00
R4820:Olfr429 UTSW 1 174089176 missense possibly damaging 0.95
R5439:Olfr429 UTSW 1 174089975 missense probably benign 0.01
R5538:Olfr429 UTSW 1 174089978 makesense probably null
R5907:Olfr429 UTSW 1 174089219 missense probably benign 0.08
R6932:Olfr429 UTSW 1 174089750 missense probably damaging 0.96
R7808:Olfr429 UTSW 1 174089851 nonsense probably null
R8040:Olfr429 UTSW 1 174089157 missense possibly damaging 0.68
Posted On2014-05-07