Incidental Mutation 'IGL01570:Olfr978'
ID91113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr978
Ensembl Gene ENSMUSG00000044292
Gene Nameolfactory receptor 978
SynonymsMOR223-3, GA_x6K02T2PVTD-33692287-33693222
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL01570
Quality Score
Status
Chromosome9
Chromosomal Location39992113-39995095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39994329 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 173 (I173T)
Ref Sequence ENSEMBL: ENSMUSP00000060106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057161] [ENSMUST00000215523] [ENSMUST00000217600]
Predicted Effect probably damaging
Transcript: ENSMUST00000057161
AA Change: I173T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060106
Gene: ENSMUSG00000044292
AA Change: I173T

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.2e-56 PFAM
Pfam:7tm_1 39 287 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215523
Predicted Effect probably benign
Transcript: ENSMUST00000217600
AA Change: I173T

PolyPhen 2 Score 0.305 (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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,559,998 S54P probably damaging Het
Adam5 A G 8: 24,810,823 V230A probably damaging Het
Arid4b T A 13: 14,186,809 probably benign Het
Cep250 T G 2: 155,967,663 probably benign Het
Col28a1 T A 6: 8,014,540 D955V probably damaging Het
Gm7676 A G 8: 13,896,311 noncoding transcript Het
Hao1 A G 2: 134,554,200 S45P probably damaging Het
Hars2 A T 18: 36,787,592 I163L probably benign Het
Iqgap1 T C 7: 80,723,061 Y1510C possibly damaging Het
Itga4 G A 2: 79,322,634 probably null Het
Kif18b G A 11: 102,912,391 H498Y probably benign Het
Kin C T 2: 10,091,952 T204M probably benign Het
Lmo7 T C 14: 101,902,371 probably null Het
Ltbp2 G A 12: 84,794,033 T1009I probably benign Het
Mad1l1 A G 5: 140,117,277 S489P probably benign Het
Memo1 A G 17: 74,217,108 probably benign Het
Myocd T A 11: 65,200,807 H103L probably benign Het
Nhlrc2 T A 19: 56,574,787 F273I possibly damaging Het
Olfr385 C A 11: 73,589,383 M118I probably benign Het
Olfr481 A T 7: 108,081,273 T160S probably benign Het
Pappa2 A C 1: 158,814,540 Y1315* probably null Het
Pdzk1ip1 C T 4: 115,089,017 P25S possibly damaging Het
Ppp2r5d A T 17: 46,687,917 V73D possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Qars C T 9: 108,511,539 T266M probably damaging Het
Slc26a2 A C 18: 61,198,260 C700G possibly damaging Het
Zfp638 C A 6: 83,947,847 A724E probably damaging Het
Other mutations in Olfr978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Olfr978 APN 9 39993842 missense probably benign
IGL02887:Olfr978 APN 9 39993813 start codon destroyed probably null 0.99
R0190:Olfr978 UTSW 9 39994544 missense probably benign 0.01
R0355:Olfr978 UTSW 9 39994163 missense possibly damaging 0.72
R1348:Olfr978 UTSW 9 39993828 missense probably benign
R1856:Olfr978 UTSW 9 39994359 missense probably benign 0.29
R3853:Olfr978 UTSW 9 39994154 missense probably damaging 0.99
R3886:Olfr978 UTSW 9 39994539 missense probably damaging 1.00
R5678:Olfr978 UTSW 9 39993903 missense probably benign 0.00
R5994:Olfr978 UTSW 9 39994223 nonsense probably null
R6185:Olfr978 UTSW 9 39994124 missense probably benign 0.19
R6721:Olfr978 UTSW 9 39994307 missense possibly damaging 0.55
R7414:Olfr978 UTSW 9 39994053 missense possibly damaging 0.53
R7556:Olfr978 UTSW 9 39994682 missense probably damaging 1.00
X0025:Olfr978 UTSW 9 39993944 missense possibly damaging 0.62
Posted On2013-12-09