Incidental Mutation 'R0478:Olfr1375'
ID43208
Institutional Source Beutler Lab
Gene Symbol Olfr1375
Ensembl Gene ENSMUSG00000057890
Gene Nameolfactory receptor 1375
SynonymsGA_x6K02T2QP88-4389999-4389056, MOR126-2, Olfr1375-ps1
MMRRC Submission 038678-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R0478 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location51048109-51049050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51048712 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 202 (S202P)
Ref Sequence ENSEMBL: ENSMUSP00000144756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073543]
Predicted Effect probably benign
Transcript: ENSMUST00000073543
AA Change: S202P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: S202P

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073543
AA Change: S202P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: S202P

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,562,589 noncoding transcript Het
4930556J24Rik T G 11: 3,976,259 probably benign Het
Acnat1 T G 4: 49,450,901 D70A probably damaging Het
Adnp2 A G 18: 80,129,334 V620A probably benign Het
Aldoart1 T A 4: 72,852,343 H21L probably benign Het
Birc3 A G 9: 7,860,347 V290A probably damaging Het
Bpifb3 C T 2: 153,931,480 probably benign Het
Camta1 C A 4: 151,075,140 R1614L probably damaging Het
Clmn A G 12: 104,785,491 M235T probably damaging Het
Dmbt1 A G 7: 131,041,187 E245G possibly damaging Het
Epgn G T 5: 91,031,128 V36L probably benign Het
Ets2 C A 16: 95,716,262 P346Q probably damaging Het
Fam222b T C 11: 78,153,856 L81P probably damaging Het
Fancf A C 7: 51,861,692 L188R probably damaging Het
Fibin T C 2: 110,362,734 D21G possibly damaging Het
Fzd6 A G 15: 39,034,034 probably null Het
Gbp4 T A 5: 105,119,433 Q540L probably benign Het
Greb1l T A 18: 10,509,281 L531Q probably damaging Het
Il5ra A G 6: 106,738,462 V137A probably benign Het
Kif26a G A 12: 112,175,789 A826T probably damaging Het
Kiz T C 2: 146,942,158 V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 G15D probably damaging Het
Kmt2d G A 15: 98,853,581 probably benign Het
Lbp T C 2: 158,317,528 probably benign Het
Mmp25 T C 17: 23,632,782 T318A probably benign Het
Mrpl50 A G 4: 49,514,513 C53R probably damaging Het
Msl3l2 G C 10: 56,115,315 E45D probably damaging Het
Nfxl1 A G 5: 72,524,645 probably null Het
Noc3l A G 19: 38,810,006 probably null Het
Olfr1126 T A 2: 87,458,026 V287E probably damaging Het
Pgm5 A T 19: 24,834,869 S100T possibly damaging Het
Pi4ka C T 16: 17,309,311 G1093S possibly damaging Het
Pitrm1 T A 13: 6,559,395 S350T probably damaging Het
Ptk2b G T 14: 66,213,372 N48K probably damaging Het
Sept3 T C 15: 82,290,806 L172P probably damaging Het
Sirt3 A T 7: 140,878,114 C41S probably benign Het
Sphkap C T 1: 83,278,711 R152H probably damaging Het
St3gal1 T C 15: 67,113,730 Y25C probably damaging Het
Tbc1d31 T C 15: 57,932,536 F175S probably damaging Het
Tfdp2 T A 9: 96,290,583 D43E probably benign Het
Tgm1 G A 14: 55,700,334 Q773* probably null Het
Tmc3 A T 7: 83,622,152 R837S possibly damaging Het
Unc13a A G 8: 71,651,148 V880A possibly damaging Het
Vmn1r237 T A 17: 21,314,819 V268E probably damaging Het
Zan C T 5: 137,400,526 probably benign Het
Zfp760 G T 17: 21,722,014 E57* probably null Het
Other mutations in Olfr1375
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Olfr1375 APN 11 51048400 missense probably benign 0.00
R0268:Olfr1375 UTSW 11 51048941 missense probably damaging 1.00
R0462:Olfr1375 UTSW 11 51048509 missense probably damaging 1.00
R0839:Olfr1375 UTSW 11 51048427 missense probably benign 0.06
R2517:Olfr1375 UTSW 11 51048473 missense probably damaging 1.00
R4688:Olfr1375 UTSW 11 51048988 missense probably damaging 1.00
R4781:Olfr1375 UTSW 11 51048480 missense probably damaging 1.00
R5396:Olfr1375 UTSW 11 51048470 missense probably damaging 1.00
R6163:Olfr1375 UTSW 11 51048768 nonsense probably null
R6739:Olfr1375 UTSW 11 51048737 missense probably damaging 0.97
R7344:Olfr1375 UTSW 11 51048295 missense probably damaging 1.00
R8054:Olfr1375 UTSW 11 51048263 missense probably benign 0.22
Z1176:Olfr1375 UTSW 11 51048835 missense probably damaging 1.00
Z1177:Olfr1375 UTSW 11 51048526 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAACGAGGACCATCTCTTATGCAC -3'
(R):5'- TCGTCCCATAGAACAGGATGACCAC -3'

Sequencing Primer
(F):5'- CATGGCCCTGGACAGATTC -3'
(R):5'- GATGACCACAGACAAATGTGAAC -3'
Posted On2013-05-23