Incidental Mutation 'IGL01819:Olfr1129'
ID154457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1129
Ensembl Gene ENSMUSG00000062272
Gene Nameolfactory receptor 1129
SynonymsGA_x6K02T2Q125-49078087-49079031, MOR264-9P, MOR264-23
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01819
Quality Score
Status
Chromosome2
Chromosomal Location87573902-87577259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87575479 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 132 (I132V)
Ref Sequence ENSEMBL: ENSMUSP00000150986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081034] [ENSMUST00000213315] [ENSMUST00000214773]
Predicted Effect probably damaging
Transcript: ENSMUST00000081034
AA Change: I132V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079823
Gene: ENSMUSG00000062272
AA Change: I132V

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 6e-53 PFAM
Pfam:7tm_1 47 296 2.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213315
AA Change: I132V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214773
AA Change: I132V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Olfr1129
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Olfr1129 APN 2 87575174 missense probably damaging 1.00
IGL01731:Olfr1129 APN 2 87575938 missense probably benign 0.26
IGL01995:Olfr1129 APN 2 87575462 missense probably damaging 1.00
IGL02280:Olfr1129 APN 2 87575345 missense probably damaging 0.98
IGL02451:Olfr1129 APN 2 87575232 missense probably benign 0.02
IGL02514:Olfr1129 APN 2 87575193 missense probably benign
IGL03039:Olfr1129 APN 2 87575192 missense probably benign 0.01
IGL03074:Olfr1129 APN 2 87575336 missense possibly damaging 0.66
R0396:Olfr1129 UTSW 2 87575567 missense possibly damaging 0.95
R0960:Olfr1129 UTSW 2 87575935 missense probably benign 0.44
R1955:Olfr1129 UTSW 2 87576005 missense probably damaging 1.00
R2006:Olfr1129 UTSW 2 87575192 missense probably benign 0.01
R3752:Olfr1129 UTSW 2 87575713 missense probably benign
R4546:Olfr1129 UTSW 2 87575186 missense probably benign 0.03
R4812:Olfr1129 UTSW 2 87575743 missense probably benign 0.11
R5327:Olfr1129 UTSW 2 87575699 missense probably damaging 1.00
R5845:Olfr1129 UTSW 2 87576023 missense probably benign 0.06
R6057:Olfr1129 UTSW 2 87576019 missense probably benign
R6087:Olfr1129 UTSW 2 87575915 missense probably benign 0.43
R6125:Olfr1129 UTSW 2 87575246 missense probably benign 0.01
R6496:Olfr1129 UTSW 2 87575116 missense probably damaging 1.00
R6805:Olfr1129 UTSW 2 87574918 splice site probably null
R6967:Olfr1129 UTSW 2 87575513 missense possibly damaging 0.50
R7286:Olfr1129 UTSW 2 87575519 missense probably benign 0.00
R7296:Olfr1129 UTSW 2 87575708 missense probably damaging 1.00
R7496:Olfr1129 UTSW 2 87575371 missense probably damaging 1.00
R7753:Olfr1129 UTSW 2 87575797 missense probably benign 0.16
Z1088:Olfr1129 UTSW 2 87575680 missense possibly damaging 0.88
Posted On2014-02-04