Incidental Mutation 'IGL02451:Olfr1129'
ID293635
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: 0.084) question?
Stock #IGL02451
Quality Score
Status
Chromosome2
Chromosomal Location87573902-87577259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87575232 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 49 (S49R)
Ref Sequence ENSEMBL: ENSMUSP00000150986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081034] [ENSMUST00000213315] [ENSMUST00000214773]
Predicted Effect probably benign
Transcript: ENSMUST00000081034
AA Change: S49R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000079823
Gene: ENSMUSG00000062272
AA Change: S49R

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 6e-53 PFAM
Pfam:7tm_1 47 296 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213315
AA Change: S49R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000214773
AA Change: S49R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging 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
IGL01819:Olfr1129 APN 2 87575479 missense probably damaging 1.00
IGL01995:Olfr1129 APN 2 87575462 missense probably damaging 1.00
IGL02280:Olfr1129 APN 2 87575345 missense probably damaging 0.98
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
Z1088:Olfr1129 UTSW 2 87575680 missense possibly damaging 0.88
Posted On2015-04-16