Incidental Mutation 'IGL03402:Olfr980'
ID421475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr980
Ensembl Gene ENSMUSG00000060254
Gene Nameolfactory receptor 980
SynonymsMOR223-2, GA_x6K02T2PVTD-33705428-33704496
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03402
Quality Score
Status
Chromosome9
Chromosomal Location40004348-40009582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40006506 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 148 (W148R)
Ref Sequence ENSEMBL: ENSMUSP00000150496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073932] [ENSMUST00000215523] [ENSMUST00000216463]
Predicted Effect probably benign
Transcript: ENSMUST00000073932
AA Change: W148R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: W148R

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.4e-55 PFAM
Pfam:7tm_1 39 287 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215523
Predicted Effect probably benign
Transcript: ENSMUST00000216463
AA Change: W148R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,177,813 H81R probably benign Het
Alg10b A T 15: 90,228,329 K459* probably null Het
C8g A T 2: 25,498,812 *203K probably null Het
Cacna1b T C 2: 24,762,809 E80G probably damaging Het
Cdh12 T A 15: 21,583,740 N555K probably benign Het
Cenpf T A 1: 189,655,076 N1669I probably damaging Het
Cpsf1 A G 15: 76,596,003 probably null Het
Ear1 A G 14: 43,819,118 S98P probably benign Het
Elfn2 A T 15: 78,673,470 D292E possibly damaging Het
Fbxw24 T C 9: 109,601,248 S443G probably damaging Het
Fnip2 T C 3: 79,481,276 E716G possibly damaging Het
Gabra1 G T 11: 42,133,518 N443K probably damaging Het
Grik5 A T 7: 25,015,469 V700E probably damaging Het
Ifi27 T A 12: 103,439,513 N162K probably damaging Het
Myom2 A T 8: 15,065,731 T49S probably benign Het
Obsl1 T C 1: 75,486,799 M1750V probably benign Het
Olfr1385 A T 11: 49,495,046 H171L probably benign Het
Olfr168 A T 16: 19,530,917 M1K probably null Het
Ppp2r5e A G 12: 75,464,893 V352A probably damaging Het
Prkca T A 11: 108,340,663 Q63L probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Slfn14 T C 11: 83,276,313 K792R probably benign Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Snx19 A T 9: 30,440,134 I135F possibly damaging Het
Stab2 A T 10: 86,969,301 V271E probably benign Het
Trpv1 T G 11: 73,239,637 F190V possibly damaging Het
Urb2 T C 8: 124,029,849 V765A possibly damaging Het
Vmn2r61 A G 7: 42,260,255 H68R probably benign Het
Vps8 T C 16: 21,448,398 I177T possibly damaging Het
Zfp810 A C 9: 22,279,145 probably null Het
Other mutations in Olfr980
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02256:Olfr980 APN 9 40006053 missense probably benign
IGL02378:Olfr980 APN 9 40006473 missense probably damaging 1.00
IGL03384:Olfr980 APN 9 40006470 missense probably benign
PIT4651001:Olfr980 UTSW 9 40006230 missense probably damaging 0.97
R0013:Olfr980 UTSW 9 40006355 missense probably damaging 1.00
R1146:Olfr980 UTSW 9 40006094 missense possibly damaging 0.95
R1146:Olfr980 UTSW 9 40006094 missense possibly damaging 0.95
R4541:Olfr980 UTSW 9 40006293 missense possibly damaging 0.95
R4562:Olfr980 UTSW 9 40006281 missense probably damaging 0.99
R4731:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4732:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4733:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4825:Olfr980 UTSW 9 40006742 missense possibly damaging 0.72
R5619:Olfr980 UTSW 9 40006743 missense probably benign 0.07
R5770:Olfr980 UTSW 9 40006338 missense probably benign 0.01
R5791:Olfr980 UTSW 9 40006734 missense probably damaging 1.00
R6813:Olfr980 UTSW 9 40006457 missense probably benign
R6819:Olfr980 UTSW 9 40006548 missense probably benign 0.00
R6970:Olfr980 UTSW 9 40006713 missense probably benign 0.00
Z1088:Olfr980 UTSW 9 40006596 missense probably damaging 0.99
Posted On2016-08-02