Incidental Mutation 'IGL03001:Olfr1173'
ID407310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1173
Ensembl Gene ENSMUSG00000075132
Gene Nameolfactory receptor 1173
SynonymsGA_x6K02T2Q125-49759783-49758845, MOR174-20_p
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL03001
Quality Score
Status
Chromosome2
Chromosomal Location88273040-88279875 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88274845 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 68 (D68V)
Ref Sequence ENSEMBL: ENSMUSP00000149617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099830] [ENSMUST00000216887]
Predicted Effect probably damaging
Transcript: ENSMUST00000099830
AA Change: D68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: D68V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.6e-46 PFAM
Pfam:7tm_1 39 288 1.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216887
AA Change: D68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
A830010M20Rik T C 5: 107,497,842 I9T probably damaging Het
Acan A C 7: 79,111,294 D1918A probably damaging Het
Ahcy C A 2: 155,064,828 D182Y probably damaging Het
Aldob T G 4: 49,542,844 D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 M53L probably benign Het
Aqr T C 2: 114,146,919 D363G probably benign Het
Asxl3 A G 18: 22,517,398 R815G probably damaging Het
Atf4 T A 15: 80,256,657 W83R probably damaging Het
Baz1a A T 12: 54,923,111 M587K possibly damaging Het
Cactin T A 10: 81,325,734 I700N probably damaging Het
Catsperg2 T C 7: 29,725,079 S95G probably benign Het
Cbwd1 T C 19: 24,922,638 K301E probably benign Het
Cd1d1 C T 3: 86,998,161 S175N probably benign Het
Chd4 C A 6: 125,101,566 A217E possibly damaging Het
Cnbd2 T C 2: 156,333,634 probably null Het
Cntnap5c G A 17: 58,055,639 C329Y probably damaging Het
Col12a1 C T 9: 79,633,673 G2391R probably damaging Het
Col5a3 T A 9: 20,807,744 D238V unknown Het
Cuedc1 T C 11: 88,182,489 V160A probably benign Het
Depdc5 T C 5: 32,945,090 V342A possibly damaging Het
Dnah6 T C 6: 73,149,140 D1338G probably benign Het
Dpyd T C 3: 118,917,242 V433A probably benign Het
Epb41l5 T C 1: 119,617,644 H179R probably damaging Het
Fbf1 T C 11: 116,165,886 probably benign Het
Flnb T C 14: 7,934,680 S2251P probably damaging Het
Fsip2 A T 2: 82,990,624 probably benign Het
Grin2b C T 6: 135,739,115 V735M probably damaging Het
Itpr3 T G 17: 27,089,612 probably benign Het
Lingo4 C T 3: 94,402,396 R214C probably damaging Het
Lrp1b C T 2: 40,927,889 R2329H probably damaging Het
Lrrc47 T C 4: 154,015,993 L342P probably damaging Het
Mmp15 T C 8: 95,368,217 S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 N95K probably benign Het
Nms C T 1: 38,941,912 P60S probably benign Het
Npas3 A T 12: 53,501,192 Y77F probably damaging Het
Olfr1158 T A 2: 87,990,149 Y13N probably benign Het
Olfr1412 T A 1: 92,588,551 S74T probably damaging Het
Olfr320 T G 11: 58,683,876 M1R probably null Het
Olfr561 G T 7: 102,775,253 C243F probably damaging Het
Olfr926 A G 9: 38,878,078 M301V probably benign Het
Picalm T C 7: 90,182,246 V429A probably benign Het
Pkhd1l1 T A 15: 44,558,004 I3056N probably damaging Het
Pomt1 G T 2: 32,244,326 M286I probably benign Het
Popdc2 A T 16: 38,369,519 Y176F probably benign Het
Psg21 A T 7: 18,652,485 M192K probably benign Het
Psma1 C A 7: 114,266,439 A219S probably benign Het
Rad21l T G 2: 151,668,469 H22P probably damaging Het
Rnf213 A G 11: 119,479,941 T4791A probably damaging Het
Sdk2 A G 11: 113,821,626 V1609A probably benign Het
Sema3e T A 5: 14,241,043 S606T probably benign Het
Slc16a4 A T 3: 107,311,542 R486S possibly damaging Het
Slc17a3 T C 13: 23,856,784 L331P probably damaging Het
Slc38a11 A T 2: 65,353,815 V164D probably damaging Het
Slc38a6 A G 12: 73,337,053 I173V probably benign Het
Synpo2 T C 3: 123,079,955 T1121A probably benign Het
Tfcp2 T C 15: 100,528,421 D83G possibly damaging Het
Thnsl1 A G 2: 21,211,644 T70A probably damaging Het
Tnfrsf21 A G 17: 43,087,895 I631V probably damaging Het
Tor2a C A 2: 32,757,317 H6Q possibly damaging Het
Ttn T C 2: 76,734,923 N19993S probably benign Het
Vps53 T C 11: 76,138,324 E119G probably damaging Het
Zkscan6 T C 11: 65,814,669 W69R probably damaging Het
Zswim8 T C 14: 20,714,391 S610P probably damaging Het
Other mutations in Olfr1173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Olfr1173 APN 2 88274716 missense probably damaging 1.00
IGL01751:Olfr1173 APN 2 88274633 missense possibly damaging 0.60
IGL02009:Olfr1173 APN 2 88274712 missense probably benign 0.06
IGL02148:Olfr1173 APN 2 88274222 missense possibly damaging 0.94
IGL02833:Olfr1173 APN 2 88274432 missense probably benign
R0471:Olfr1173 UTSW 2 88274215 missense possibly damaging 0.95
R2136:Olfr1173 UTSW 2 88274240 missense probably damaging 0.98
R2141:Olfr1173 UTSW 2 88275010 missense probably benign 0.30
R3957:Olfr1173 UTSW 2 88275004 missense probably damaging 1.00
R4801:Olfr1173 UTSW 2 88274879 missense probably damaging 1.00
R4802:Olfr1173 UTSW 2 88274879 missense probably damaging 1.00
R5266:Olfr1173 UTSW 2 88274221 missense possibly damaging 0.49
R5371:Olfr1173 UTSW 2 88274632 missense probably damaging 1.00
R5775:Olfr1173 UTSW 2 88274701 missense probably damaging 0.98
R7222:Olfr1173 UTSW 2 88274465 missense probably benign 0.00
R7493:Olfr1173 UTSW 2 88275101 start gained probably benign
R7503:Olfr1173 UTSW 2 88274695 missense probably damaging 1.00
R7586:Olfr1173 UTSW 2 88274450 missense probably damaging 0.98
R8192:Olfr1173 UTSW 2 88274944 missense probably damaging 0.99
R8354:Olfr1173 UTSW 2 88274692 missense probably damaging 1.00
R8530:Olfr1173 UTSW 2 88274810 missense probably damaging 1.00
Posted On2016-08-02