Incidental Mutation 'IGL01064:Olfr1329'
ID50832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1329
Ensembl Gene ENSMUSG00000096705
Gene Nameolfactory receptor 1329
SynonymsMOR259-2, GA_x6K02T2QD9B-18619941-18620882
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL01064
Quality Score
Status
Chromosome4
Chromosomal Location118916524-118917465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118916894 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 191 (M191K)
Ref Sequence ENSEMBL: ENSMUSP00000071870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071979]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071979
AA Change: M191K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071870
Gene: ENSMUSG00000096705
AA Change: M191K

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.3e-55 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1.5e-6 PFAM
Pfam:7tm_1 42 291 5.7e-25 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Olfr1329
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02065:Olfr1329 APN 4 118916771 missense probably benign 0.00
IGL02085:Olfr1329 APN 4 118916750 missense probably damaging 1.00
IGL02092:Olfr1329 APN 4 118916990 missense possibly damaging 0.72
IGL02557:Olfr1329 APN 4 118917192 missense probably benign 0.00
R0129:Olfr1329 UTSW 4 118917470 splice site probably null
R0411:Olfr1329 UTSW 4 118916626 missense possibly damaging 0.87
R5001:Olfr1329 UTSW 4 118917243 missense probably damaging 0.97
R5313:Olfr1329 UTSW 4 118916798 missense probably benign 0.00
R5733:Olfr1329 UTSW 4 118916838 missense probably benign 0.00
R6153:Olfr1329 UTSW 4 118916747 missense probably damaging 1.00
R6274:Olfr1329 UTSW 4 118917230 missense probably benign 0.01
R7671:Olfr1329 UTSW 4 118916986 missense probably benign 0.02
R8358:Olfr1329 UTSW 4 118916526 makesense probably null
R8696:Olfr1329 UTSW 4 118917438 missense probably benign 0.23
R8881:Olfr1329 UTSW 4 118917374 missense probably benign 0.01
Z1088:Olfr1329 UTSW 4 118916588 missense probably damaging 1.00
Z1176:Olfr1329 UTSW 4 118917027 missense probably benign 0.21
Z1176:Olfr1329 UTSW 4 118917135 missense probably damaging 0.96
Posted On2013-06-21