Incidental Mutation 'IGL03121:Olfr780'
ID409963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr780
Ensembl Gene ENSMUSG00000049573
Gene Nameolfactory receptor 780
SynonymsGA_x6K02T2PULF-11002360-11003298, MOR114-12
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.781) question?
Stock #IGL03121
Quality Score
Status
Chromosome10
Chromosomal Location129318117-129324141 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129322168 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 182 (I182V)
Ref Sequence ENSEMBL: ENSMUSP00000149258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063168] [ENSMUST00000215503]
Predicted Effect probably benign
Transcript: ENSMUST00000063168
AA Change: I182V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: I182V

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.4e-45 PFAM
Pfam:7tm_1 39 288 9.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215503
AA Change: I182V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,761,650 S4P possibly damaging Het
A2m A G 6: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Brd8 A T 18: 34,606,687 F678I probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nkd2 C A 13: 73,821,379 A311S probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Ube2q2 A T 9: 55,195,039 probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Wipi2 G A 5: 142,663,102 E252K probably benign Het
Other mutations in Olfr780
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Olfr780 APN 10 129321716 missense probably benign 0.00
IGL02817:Olfr780 APN 10 129321895 missense probably benign 0.01
IGL03396:Olfr780 APN 10 129322047 missense probably benign 0.01
R0586:Olfr780 UTSW 10 129322047 missense probably benign 0.01
R0601:Olfr780 UTSW 10 129322016 missense possibly damaging 0.52
R1957:Olfr780 UTSW 10 129321871 missense possibly damaging 0.95
R3915:Olfr780 UTSW 10 129322309 missense probably benign 0.14
R4419:Olfr780 UTSW 10 129321815 missense possibly damaging 0.95
R5383:Olfr780 UTSW 10 129322336 missense probably damaging 1.00
R6030:Olfr780 UTSW 10 129322369 missense probably benign 0.02
R6030:Olfr780 UTSW 10 129322369 missense probably benign 0.02
R6762:Olfr780 UTSW 10 129322256 missense probably damaging 0.97
R7259:Olfr780 UTSW 10 129321794 missense probably benign 0.13
R7575:Olfr780 UTSW 10 129321859 missense probably damaging 1.00
R7904:Olfr780 UTSW 10 129321796 missense probably damaging 1.00
Z1176:Olfr780 UTSW 10 129322219 missense probably benign 0.11
Posted On2016-08-02