Incidental Mutation 'IGL01538:Olfr1301'
ID90030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1301
Ensembl Gene ENSMUSG00000057149
Gene Nameolfactory receptor 1301
SynonymsGA_x6K02T2Q125-72805651-72806589, MOR248-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01538
Quality Score
Status
Chromosome2
Chromosomal Location111751006-111758852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111755005 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 252 (V252E)
Ref Sequence ENSEMBL: ENSMUSP00000146530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080094] [ENSMUST00000207590]
Predicted Effect probably damaging
Transcript: ENSMUST00000080094
AA Change: V252E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: V252E

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.1e-53 PFAM
Pfam:7tm_1 41 287 2.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207590
AA Change: V252E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Aldh5a1 T C 13: 24,918,512 N323D possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Nup85 T C 11: 115,569,714 S140P possibly damaging Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pcdhb2 T A 18: 37,295,322 L116* probably null Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Ppp2r2d T A 7: 138,876,635 Y169N probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tgm7 T A 2: 121,106,915 Y76F probably benign Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Olfr1301
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Olfr1301 APN 2 111754426 missense probably damaging 1.00
IGL01396:Olfr1301 APN 2 111754603 missense probably damaging 1.00
IGL01396:Olfr1301 APN 2 111754503 missense probably benign 0.01
IGL01795:Olfr1301 APN 2 111754386 missense probably benign 0.00
IGL02007:Olfr1301 APN 2 111754479 missense probably damaging 0.99
IGL02738:Olfr1301 APN 2 111754354 missense probably damaging 1.00
IGL03365:Olfr1301 APN 2 111754427 missense possibly damaging 0.95
R0014:Olfr1301 UTSW 2 111754774 missense probably damaging 1.00
R0115:Olfr1301 UTSW 2 111754585 missense probably damaging 1.00
R0481:Olfr1301 UTSW 2 111754585 missense probably damaging 1.00
R1441:Olfr1301 UTSW 2 111755002 missense probably damaging 1.00
R1583:Olfr1301 UTSW 2 111754425 missense probably damaging 0.98
R2091:Olfr1301 UTSW 2 111754386 missense probably benign 0.00
R2301:Olfr1301 UTSW 2 111754276 missense probably benign 0.01
R2363:Olfr1301 UTSW 2 111754794 missense probably damaging 0.97
R2511:Olfr1301 UTSW 2 111754316 missense probably benign 0.00
R3686:Olfr1301 UTSW 2 111754569 missense probably benign 0.00
R4841:Olfr1301 UTSW 2 111754334 missense probably benign 0.00
R4915:Olfr1301 UTSW 2 111754380 missense probably benign 0.00
R4961:Olfr1301 UTSW 2 111754405 missense probably damaging 1.00
R5123:Olfr1301 UTSW 2 111754552 missense probably damaging 1.00
R5417:Olfr1301 UTSW 2 111754920 missense possibly damaging 0.50
R5654:Olfr1301 UTSW 2 111754981 missense probably damaging 1.00
R5753:Olfr1301 UTSW 2 111754801 missense possibly damaging 0.51
R6361:Olfr1301 UTSW 2 111754595 missense probably damaging 1.00
R6525:Olfr1301 UTSW 2 111754984 missense probably benign 0.09
R6682:Olfr1301 UTSW 2 111754635 missense probably damaging 1.00
R7099:Olfr1301 UTSW 2 111755076 missense probably benign 0.00
Posted On2013-12-03