Incidental Mutation 'IGL00092:Olfr1375'
ID306517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1375
Ensembl Gene ENSMUSG00000057890
Gene Nameolfactory receptor 1375
SynonymsGA_x6K02T2QP88-4389999-4389056, MOR126-2, Olfr1375-ps1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00092
Quality Score
Status
Chromosome11
Chromosomal Location51048109-51049050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 51048400 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 98 (Q98K)
Ref Sequence ENSEMBL: ENSMUSP00000144756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073543]
Predicted Effect probably benign
Transcript: ENSMUST00000073543
AA Change: Q98K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: Q98K

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: Q98K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: Q98K

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,928,695 D443G probably benign Het
Atg16l1 T C 1: 87,765,397 I28T possibly damaging Het
Bpi T A 2: 158,274,796 V371E probably damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Ninj1 A T 13: 49,193,734 probably null Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sart3 T C 5: 113,746,669 R625G probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Trim47 A G 11: 116,106,194 L578P probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Olfr1375
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0268:Olfr1375 UTSW 11 51048941 missense probably damaging 1.00
R0462:Olfr1375 UTSW 11 51048509 missense probably damaging 1.00
R0478:Olfr1375 UTSW 11 51048712 missense probably benign 0.03
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
R7994:Olfr1375 UTSW 11 51048140 missense probably benign 0.31
R8054:Olfr1375 UTSW 11 51048263 missense probably benign 0.22
R8129:Olfr1375 UTSW 11 51048383 missense probably benign 0.00
Z1176:Olfr1375 UTSW 11 51048835 missense probably damaging 1.00
Z1177:Olfr1375 UTSW 11 51048526 missense probably damaging 1.00
Posted On2015-04-16