Incidental Mutation 'IGL02306:Olfr1189'
ID287606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1189
Ensembl Gene ENSMUSG00000068808
Gene Nameolfactory receptor 1189
SynonymsGA_x6K02T2Q125-50079044-50079964, MOR237-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL02306
Quality Score
Status
Chromosome2
Chromosomal Location88586454-88592762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88592606 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 267 (K267N)
Ref Sequence ENSEMBL: ENSMUSP00000149696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090700] [ENSMUST00000213679]
Predicted Effect probably benign
Transcript: ENSMUST00000090700
AA Change: K267N

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088201
Gene: ENSMUSG00000068808
AA Change: K267N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 9.6e-42 PFAM
Pfam:7tm_1 39 285 4.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213679
AA Change: K267N

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,158,395 Y680C probably damaging Het
Abcb11 C T 2: 69,265,457 W846* probably null Het
Adam34 G A 8: 43,650,485 R708C probably benign Het
Adam6a T A 12: 113,545,723 L572Q possibly damaging Het
Aldoart2 A G 12: 55,565,704 Y138C probably damaging Het
Amigo1 T A 3: 108,187,986 F267Y probably benign Het
Car7 A G 8: 104,548,998 Y137C probably damaging Het
Ccar2 A T 14: 70,142,022 M509K probably benign Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cd163l1 T C 7: 140,223,356 C278R probably damaging Het
Cmya5 C T 13: 93,098,019 G187D probably damaging Het
Crot A T 5: 8,968,701 V555E possibly damaging Het
Cstf1 C T 2: 172,372,971 T4I probably benign Het
Cyp2a12 A G 7: 27,032,583 K250E probably damaging Het
Deaf1 T C 7: 141,324,181 probably null Het
Dse C T 10: 34,160,134 E249K probably damaging Het
E4f1 G T 17: 24,446,929 R88S probably damaging Het
Fam160b2 T C 14: 70,588,997 D217G probably benign Het
Fam83a A C 15: 57,995,308 D248A probably damaging Het
Hadhb T A 5: 30,166,749 L66Q probably null Het
Kalrn T C 16: 34,310,527 E440G probably damaging Het
Kif3b A G 2: 153,320,652 Y527C probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Krtap29-1 A T 11: 99,978,266 V263E probably damaging Het
Mms19 A G 19: 41,966,264 L72P probably damaging Het
Mylpf T A 7: 127,213,158 probably benign Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Nedd4l T G 18: 65,172,954 S292R possibly damaging Het
Nlrc3 A C 16: 3,964,824 D240E probably damaging Het
Obscn A T 11: 58,999,671 I7345N unknown Het
Ostn A T 16: 27,346,941 S127C probably damaging Het
Patl1 A G 19: 11,942,886 K735E possibly damaging Het
Pde12 A G 14: 26,668,378 L392P possibly damaging Het
Plxdc2 A G 2: 16,660,774 I213V probably benign Het
Plxna4 T A 6: 32,206,124 Y948F probably benign Het
Prlhr A T 19: 60,467,915 V71E probably damaging Het
Prlr C T 15: 10,328,674 P412S probably benign Het
Prmt9 A G 8: 77,560,818 K196R probably benign Het
Rundc3a T A 11: 102,400,938 L387Q probably damaging Het
Ryr3 T C 2: 112,834,114 I1611V probably damaging Het
Ryr3 A G 2: 112,847,399 probably null Het
Sfxn2 T A 19: 46,590,548 M240K probably damaging Het
Skor2 T C 18: 76,862,679 S901P probably benign Het
Smad4 T C 18: 73,662,869 probably null Het
Snrnp40 T G 4: 130,365,100 C100W probably benign Het
Spink5 T A 18: 43,964,444 D19E probably damaging Het
Sult1d1 T A 5: 87,556,055 probably benign Het
Wdr59 G A 8: 111,492,733 L231F probably damaging Het
Other mutations in Olfr1189
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Olfr1189 UTSW 2 88592655 missense probably damaging 1.00
R0481:Olfr1189 UTSW 2 88592655 missense probably damaging 1.00
R0565:Olfr1189 UTSW 2 88592009 missense probably benign 0.39
R1106:Olfr1189 UTSW 2 88592011 missense probably benign 0.01
R1501:Olfr1189 UTSW 2 88592148 missense possibly damaging 0.94
R1616:Olfr1189 UTSW 2 88592008 missense probably damaging 0.99
R1763:Olfr1189 UTSW 2 88592436 missense probably benign 0.02
R1847:Olfr1189 UTSW 2 88592172 missense probably damaging 1.00
R1989:Olfr1189 UTSW 2 88592599 missense probably damaging 0.99
R3436:Olfr1189 UTSW 2 88592104 missense probably damaging 1.00
R3500:Olfr1189 UTSW 2 88591941 missense probably damaging 1.00
R4410:Olfr1189 UTSW 2 88592421 missense probably benign 0.03
R4463:Olfr1189 UTSW 2 88592632 missense possibly damaging 0.77
R5005:Olfr1189 UTSW 2 88592004 missense probably benign 0.00
R5174:Olfr1189 UTSW 2 88592648 missense probably damaging 1.00
R5557:Olfr1189 UTSW 2 88592553 missense probably damaging 1.00
R6354:Olfr1189 UTSW 2 88592134 missense probably damaging 1.00
R6850:Olfr1189 UTSW 2 88592306 nonsense probably null
R7522:Olfr1189 UTSW 2 88592661 missense not run
Posted On2015-04-16