Incidental Mutation 'IGL03133:Olfr1065'
ID410401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1065
Ensembl Gene ENSMUSG00000111306
Gene Nameolfactory receptor 1065
SynonymsMOR190-1, GA_x6K02T2Q125-47915274-47914333
Accession Numbers

Genbank: NM_146408; MGI: 3030899

Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL03133
Quality Score
Status
Chromosome2
Chromosomal Location86443958-86450591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86445658 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 108 (I108T)
Ref Sequence ENSEMBL: ENSMUSP00000149248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000216165] [ENSMUST00000217586]
Predicted Effect probably damaging
Transcript: ENSMUST00000099886
AA Change: I108T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097471
Gene: ENSMUSG00000075182
AA Change: I108T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.1e-53 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213789
AA Change: I108T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216162
AA Change: I108T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216165
AA Change: I108T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217586
AA Change: I108T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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
Adarb1 T C 10: 77,325,896 probably benign Het
Ano5 C T 7: 51,576,512 R505* probably null Het
Asphd1 A G 7: 126,948,280 C284R possibly damaging Het
Cep192 T A 18: 67,810,105 W158R probably benign Het
Ces2h T A 8: 105,016,779 D188E probably damaging Het
Dab1 G A 4: 104,727,580 V306I probably benign Het
Dcc A G 18: 71,262,955 probably benign Het
Dennd6b T A 15: 89,188,523 probably null Het
Dmwd T A 7: 19,076,637 V123D probably damaging Het
Eno1 A G 4: 150,245,344 probably benign Het
Fat2 G A 11: 55,286,043 T1542I probably benign Het
Fcrl1 T C 3: 87,389,392 S274P probably benign Het
Gmpr T C 13: 45,517,018 V72A probably benign Het
Kank2 T C 9: 21,795,641 E27G probably null Het
Mtor G T 4: 148,484,319 A1099S probably benign Het
Ofcc1 T C 13: 40,072,768 I763V probably benign Het
Olfr1023 G T 2: 85,887,134 E111D probably damaging Het
Olfr487 G T 7: 108,212,387 S47R possibly damaging Het
Olfr870 T A 9: 20,170,713 N286I probably damaging Het
Piwil1 C A 5: 128,742,029 H201N probably benign Het
Slc26a7 C T 4: 14,532,576 V433M possibly damaging Het
Spata31d1c T C 13: 65,034,985 Y114H probably benign Het
Stx7 A T 10: 24,185,038 N221I probably damaging Het
Tbc1d31 A T 15: 57,942,459 probably benign Het
Ubxn7 T G 16: 32,381,781 L393R probably damaging Het
Vit A T 17: 78,566,071 M59L probably benign Het
Vmn1r5 T A 6: 56,985,615 C92S probably benign Het
Other mutations in Olfr1065
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03173:Olfr1065 APN 2 86445444 nonsense probably null
IGL03257:Olfr1065 APN 2 86445890 missense probably damaging 0.98
D4043:Olfr1065 UTSW 2 86445220 missense probably damaging 0.99
R0265:Olfr1065 UTSW 2 86445959 missense probably benign 0.00
R0550:Olfr1065 UTSW 2 86445876 nonsense probably null
R0633:Olfr1065 UTSW 2 86445129 missense probably benign 0.45
R0727:Olfr1065 UTSW 2 86445938 missense probably benign 0.00
R1017:Olfr1065 UTSW 2 86445428 missense probably benign 0.13
R1416:Olfr1065 UTSW 2 86445320 missense probably benign 0.43
R1657:Olfr1065 UTSW 2 86445218 missense probably damaging 1.00
R1983:Olfr1065 UTSW 2 86445076 missense probably benign 0.01
R3919:Olfr1065 UTSW 2 86445418 missense probably benign 0.01
R4345:Olfr1065 UTSW 2 86445845 missense probably damaging 1.00
R5382:Olfr1065 UTSW 2 86445316 missense probably damaging 0.99
R5757:Olfr1065 UTSW 2 86445578 missense probably benign 0.22
R6530:Olfr1065 UTSW 2 86445482 missense probably benign 0.31
R6765:Olfr1065 UTSW 2 86445236 missense probably benign 0.04
R6856:Olfr1065 UTSW 2 86445907 missense probably benign 0.04
R7156:Olfr1065 UTSW 2 86445308 missense probably damaging 1.00
R8239:Olfr1065 UTSW 2 86445129 missense noncoding transcript
R8338:Olfr1065 UTSW 2 86445385 missense probably benign 0.00
Posted On2016-08-02