Incidental Mutation 'IGL02996:Olfr59'
ID407123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr59
Ensembl Gene ENSMUSG00000070374
Gene Nameolfactory receptor 59
SynonymsMOR133-3P, IH3, GA_x6K02T2P1NL-4434429-4435400
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02996
Quality Score
Status
Chromosome11
Chromosomal Location74283736-74291608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74289165 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000148959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143976] [ENSMUST00000205790] [ENSMUST00000206659] [ENSMUST00000214048]
Predicted Effect probably benign
Transcript: ENSMUST00000119717
AA Change: V173A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112522
Gene: ENSMUSG00000070374
AA Change: V173A

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 2.2e-59 PFAM
Pfam:7tm_1 41 292 3.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143976
AA Change: V173A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119877
Gene: ENSMUSG00000070374
AA Change: V173A

DomainStartEndE-ValueType
Pfam:7tm_1 41 237 7.5e-34 PFAM
Pfam:7tm_4 139 237 1.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205790
AA Change: V173A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000206659
AA Change: V173A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214048
AA Change: V173A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
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
B4galnt1 C T 10: 127,167,003 R130W probably damaging Het
Cd200r3 T C 16: 44,954,317 L231P probably damaging Het
Cd200r4 C A 16: 44,833,033 N55K probably benign Het
Cyb561d1 C T 3: 108,199,645 R86Q probably damaging Het
Dst T C 1: 34,188,398 S1869P possibly damaging Het
Dusp6 T C 10: 99,264,766 V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 V4248E probably damaging Het
Exoc6b T A 6: 84,908,213 D248V probably benign Het
Fat4 A C 3: 38,958,525 D2323A probably damaging Het
Fbxo6 T C 4: 148,146,891 Y144C probably damaging Het
Gm7334 C A 17: 50,699,056 N123K possibly damaging Het
Large2 T C 2: 92,365,928 H518R possibly damaging Het
March4 G A 1: 72,428,899 Q325* probably null Het
Mccc2 C A 13: 99,960,979 probably benign Het
Mical3 T C 6: 120,958,558 D1669G probably damaging Het
Mkrn2 T C 6: 115,611,907 F204L probably benign Het
Olfr943 A G 9: 39,185,065 R293G probably damaging Het
Pkn3 A G 2: 30,080,615 D148G probably benign Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Rwdd1 G T 10: 34,002,516 Q108K probably damaging Het
Senp3 T C 11: 69,674,260 E496G probably damaging Het
St6gal1 T A 16: 23,321,154 V25E probably damaging Het
Syt4 T C 18: 31,444,146 K52E probably damaging Het
Tap1 C A 17: 34,191,396 A349E probably damaging Het
Tfr2 T A 5: 137,583,466 M605K probably benign Het
Tmem192 A G 8: 64,968,790 probably null Het
Trf T C 9: 103,220,903 E52G probably benign Het
Ttn A G 2: 76,726,187 V30158A probably damaging Het
Unc5a A G 13: 54,996,178 E152G probably damaging Het
Vmn2r57 T A 7: 41,399,741 K861N probably benign Het
Other mutations in Olfr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Olfr59 APN 11 74289126 missense probably damaging 1.00
IGL00337:Olfr59 APN 11 74289387 missense probably damaging 0.97
IGL01307:Olfr59 APN 11 74289428 missense possibly damaging 0.88
IGL01488:Olfr59 APN 11 74288688 missense probably damaging 1.00
IGL02583:Olfr59 APN 11 74289504 missense probably damaging 1.00
IGL02839:Olfr59 APN 11 74289370 nonsense probably null
R0013:Olfr59 UTSW 11 74289051 missense possibly damaging 0.88
R0077:Olfr59 UTSW 11 74288675 missense probably benign 0.00
R0078:Olfr59 UTSW 11 74289266 missense probably damaging 1.00
R0734:Olfr59 UTSW 11 74288946 missense probably damaging 1.00
R1033:Olfr59 UTSW 11 74288666 missense probably damaging 0.99
R1556:Olfr59 UTSW 11 74288936 missense probably damaging 1.00
R1721:Olfr59 UTSW 11 74289300 missense probably damaging 1.00
R1737:Olfr59 UTSW 11 74288811 missense probably damaging 1.00
R1848:Olfr59 UTSW 11 74289213 missense probably damaging 0.99
R1881:Olfr59 UTSW 11 74288666 missense probably benign 0.08
R2057:Olfr59 UTSW 11 74288826 missense probably damaging 1.00
R2107:Olfr59 UTSW 11 74289390 missense probably damaging 1.00
R4399:Olfr59 UTSW 11 74288856 missense probably damaging 1.00
R4633:Olfr59 UTSW 11 74289294 missense probably benign 0.00
R5593:Olfr59 UTSW 11 74288792 missense possibly damaging 0.65
R5988:Olfr59 UTSW 11 74288853 missense probably benign
R6104:Olfr59 UTSW 11 74289366 missense probably damaging 1.00
R7436:Olfr59 UTSW 11 74288685 missense possibly damaging 0.84
R7506:Olfr59 UTSW 11 74289123 missense not run
Z1088:Olfr59 UTSW 11 74288835 missense probably damaging 1.00
Posted On2016-08-02