Incidental Mutation 'IGL01867:Olfr780'
ID178544
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: 0.778) question?
Stock #IGL01867
Quality Score
Status
Chromosome10
Chromosomal Location129318117-129324141 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129321716 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000149258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063168] [ENSMUST00000215503]
Predicted Effect probably benign
Transcript: ENSMUST00000063168
AA Change: I31T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,324,438 E213G probably benign Het
Akap6 T C 12: 52,888,008 L761P probably damaging Het
Bbs7 A C 3: 36,573,547 L697R probably benign Het
Cd74 G A 18: 60,808,280 R99H probably benign Het
Cpne6 A G 14: 55,513,680 N182S probably benign Het
Cyp4f17 A G 17: 32,528,083 H429R probably benign Het
Dact2 A T 17: 14,195,670 M756K probably damaging Het
Ets1 A G 9: 32,734,159 D234G probably damaging Het
Fam196b A G 11: 34,403,065 E369G probably benign Het
Fat3 A C 9: 16,377,901 S109A probably benign Het
Fras1 G T 5: 96,588,131 M528I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gtf3c1 A G 7: 125,662,376 F1189L probably benign Het
Ift81 A T 5: 122,602,676 probably benign Het
Lag3 A G 6: 124,910,906 S22P probably benign Het
Mos G T 4: 3,870,845 Q324K probably benign Het
Mtx2 T A 2: 74,876,389 V236E probably damaging Het
Naip6 T C 13: 100,300,312 T568A probably benign Het
Olfr175-ps1 A G 16: 58,823,974 F245S probably damaging Het
Olfr781 T A 10: 129,333,363 L161M probably damaging Het
Olfr794 G A 10: 129,570,827 M57I possibly damaging Het
Olfr920 A C 9: 38,755,898 D70A probably damaging Het
Pcid2 A G 8: 13,078,243 V386A probably benign Het
Pde8b T C 13: 95,100,938 D116G probably damaging Het
Plxnc1 A G 10: 94,798,146 V1365A possibly damaging Het
Prex2 G T 1: 11,098,503 C241F probably benign Het
Prr23a2 A G 9: 98,857,060 E157G probably benign Het
Ptpn4 A T 1: 119,675,599 H836Q probably benign Het
Ptprd C T 4: 76,243,647 R117H probably damaging Het
Rab11fip4 T C 11: 79,683,390 S102P probably benign Het
Slc44a1 G T 4: 53,536,405 V194F probably damaging Het
Synm T A 7: 67,733,474 H1480L probably benign Het
Tmem63a A G 1: 180,956,005 Y175C possibly damaging Het
Trmt61a C T 12: 111,678,716 R29C probably benign Het
Ubap1 C T 4: 41,379,236 T150I probably benign Het
Uimc1 T C 13: 55,075,401 M353V probably benign Het
Usp34 T C 11: 23,384,411 M1135T possibly damaging Het
Vmn1r25 A C 6: 57,979,211 L31R probably damaging Het
Wtap T C 17: 12,969,455 E186G probably benign Het
Wwc2 T G 8: 47,883,580 N216H probably benign Het
Zhx1 A T 15: 58,054,445 M135K probably damaging Het
Other mutations in Olfr780
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02817:Olfr780 APN 10 129321895 missense probably benign 0.01
IGL03121:Olfr780 APN 10 129322168 missense probably benign 0.11
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 On2014-05-07