Incidental Mutation 'IGL03178:Or2y13'
ID 412079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y13
Ensembl Gene ENSMUSG00000107417
Gene Name olfactory receptor family 2 subfamily Y member 14
Synonyms Olfr1383, GA_x6K02T2QP88-5912627-5911692, MOR256-56
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL03178
Quality Score
Status
Chromosome 11
Chromosomal Location 49414552-49415487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49414817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000145258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077143] [ENSMUST00000204706] [ENSMUST00000213152] [ENSMUST00000213707] [ENSMUST00000213899] [ENSMUST00000217564]
AlphaFold Q7TQT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000077143
AA Change: D89G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076390
Gene: ENSMUSG00000107417
AA Change: D89G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-44 PFAM
Pfam:7tm_1 41 289 3e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204706
AA Change: D89G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145258
Gene: ENSMUSG00000107417
AA Change: D89G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-44 PFAM
Pfam:7tm_1 41 289 3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213152
Predicted Effect probably benign
Transcript: ENSMUST00000213707
Predicted Effect probably benign
Transcript: ENSMUST00000213899
Predicted Effect probably benign
Transcript: ENSMUST00000217564
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,771,589 (GRCm39) probably null Het
Afg2a T C 3: 37,632,932 (GRCm39) L846P probably damaging Het
Alpk1 A T 3: 127,473,870 (GRCm39) L711* probably null Het
Arfgef3 A T 10: 18,488,973 (GRCm39) W1291R probably damaging Het
Arhgef10l A G 4: 140,271,739 (GRCm39) V545A possibly damaging Het
Best3 A G 10: 116,824,684 (GRCm39) Y50C probably damaging Het
C1qtnf2 C A 11: 43,381,816 (GRCm39) D179E probably damaging Het
Cdc40 A T 10: 40,723,985 (GRCm39) S268T probably benign Het
Ces1a C T 8: 93,747,517 (GRCm39) G505R probably damaging Het
Cpd A T 11: 76,696,877 (GRCm39) N683K probably benign Het
D430041D05Rik A T 2: 104,051,556 (GRCm39) I767N probably damaging Het
Diras1 G T 10: 80,858,211 (GRCm39) F13L possibly damaging Het
Dnah7c A G 1: 46,506,525 (GRCm39) N201D probably benign Het
Dpy19l3 A T 7: 35,429,154 (GRCm39) Y9* probably null Het
Ect2 T A 3: 27,203,009 (GRCm39) I79L probably benign Het
Eif2b4 A T 5: 31,344,997 (GRCm39) I550N probably damaging Het
Enpp2 T A 15: 54,729,402 (GRCm39) M476L probably benign Het
Gm20425 A G 9: 103,087,751 (GRCm39) Y654H probably damaging Het
Gm5884 T C 6: 128,622,690 (GRCm39) noncoding transcript Het
Gtf3c6 A T 10: 40,125,718 (GRCm39) D166E probably benign Het
Gucy2c A T 6: 136,706,237 (GRCm39) probably benign Het
Inpp5b A G 4: 124,679,047 (GRCm39) T485A probably benign Het
Insrr A G 3: 87,709,848 (GRCm39) probably null Het
Lig3 T C 11: 82,680,548 (GRCm39) probably benign Het
Lmo7 T A 14: 102,166,696 (GRCm39) Y1047* probably null Het
Map4k4 A G 1: 40,025,853 (GRCm39) E281G possibly damaging Het
Mmel1 A G 4: 154,975,311 (GRCm39) T431A possibly damaging Het
Myh10 T C 11: 68,590,239 (GRCm39) V58A probably benign Het
Myo1e A T 9: 70,194,231 (GRCm39) H14L possibly damaging Het
Myo1g C T 11: 6,462,181 (GRCm39) V594M probably damaging Het
Nr4a2 G A 2: 57,000,778 (GRCm39) R226C probably damaging Het
Obox3 A G 7: 15,361,202 (GRCm39) L21P probably benign Het
Pate12 T G 9: 36,344,132 (GRCm39) S38R probably benign Het
Phlpp1 T A 1: 106,320,118 (GRCm39) I1371N probably damaging Het
Pramel29 A G 4: 143,934,821 (GRCm39) probably null Het
Proser3 G A 7: 30,243,034 (GRCm39) A181V probably damaging Het
Pudp A T 18: 50,701,472 (GRCm39) L87Q probably benign Het
Siglecf T C 7: 43,008,163 (GRCm39) S559P probably damaging Het
Slc22a16 A G 10: 40,449,756 (GRCm39) H85R probably benign Het
Spata32 T C 11: 103,101,588 (GRCm39) D15G probably benign Het
Szt2 G A 4: 118,239,886 (GRCm39) A1899V unknown Het
Tomm40 C T 7: 19,435,759 (GRCm39) V324M probably damaging Het
Trgv7 C A 13: 19,362,211 (GRCm39) probably benign Het
Ttll4 C T 1: 74,719,567 (GRCm39) P25S probably damaging Het
Vps13b G T 15: 35,869,446 (GRCm39) C2650F probably damaging Het
Wdr83os T C 8: 85,807,870 (GRCm39) L40P probably damaging Het
Zfp977 T C 7: 42,232,072 (GRCm39) R64G probably damaging Het
Other mutations in Or2y13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Or2y13 APN 11 49,414,571 (GRCm39) missense possibly damaging 0.56
R0089:Or2y13 UTSW 11 49,415,033 (GRCm39) missense possibly damaging 0.67
R0112:Or2y13 UTSW 11 49,414,961 (GRCm39) missense possibly damaging 0.70
R0243:Or2y13 UTSW 11 49,414,739 (GRCm39) missense probably damaging 1.00
R0445:Or2y13 UTSW 11 49,414,784 (GRCm39) missense probably damaging 1.00
R0646:Or2y13 UTSW 11 49,415,405 (GRCm39) missense probably damaging 1.00
R1695:Or2y13 UTSW 11 49,415,162 (GRCm39) missense probably benign 0.32
R2142:Or2y13 UTSW 11 49,414,666 (GRCm39) missense probably benign 0.00
R3898:Or2y13 UTSW 11 49,415,386 (GRCm39) missense probably damaging 0.98
R4085:Or2y13 UTSW 11 49,414,955 (GRCm39) missense probably benign 0.23
R5677:Or2y13 UTSW 11 49,414,771 (GRCm39) missense probably damaging 0.98
R6187:Or2y13 UTSW 11 49,414,338 (GRCm39) unclassified probably benign
R6272:Or2y13 UTSW 11 49,414,953 (GRCm39) missense possibly damaging 0.67
R6287:Or2y13 UTSW 11 49,415,072 (GRCm39) missense probably damaging 0.99
R6898:Or2y13 UTSW 11 49,414,536 (GRCm39) unclassified probably benign
R7007:Or2y13 UTSW 11 49,415,011 (GRCm39) missense probably benign 0.15
R7452:Or2y13 UTSW 11 49,415,208 (GRCm39) missense probably benign 0.03
R7699:Or2y13 UTSW 11 49,415,381 (GRCm39) missense probably damaging 1.00
R7700:Or2y13 UTSW 11 49,415,381 (GRCm39) missense probably damaging 1.00
X0017:Or2y13 UTSW 11 49,414,829 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02