Incidental Mutation 'IGL02203:Olfr1337'
ID284383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1337
Ensembl Gene ENSMUSG00000111159
Gene Nameolfactory receptor 1337
SynonymsGA_x6K02T2QD9B-18767132-18768073, Olfr219-ps1, GA_x6K02SYWGW3-414-3, MOR259-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL02203
Quality Score
Status
Chromosome4
Chromosomal Location118781636-118782586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118782429 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 52 (V52D)
Ref Sequence ENSEMBL: ENSMUSP00000076483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077247]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077247
AA Change: V52D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076483
Gene: ENSMUSG00000111159
AA Change: V52D

DomainStartEndE-ValueType
Pfam:7tm_4 34 310 7.8e-53 PFAM
Pfam:7TM_GPCR_Srsx 38 308 8.5e-7 PFAM
Pfam:7tm_1 44 293 8.3e-23 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Eng A G 2: 32,671,486 I170V probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Il13ra2 A G X: 147,383,673 L367P possibly damaging Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1020 T G 2: 85,850,088 F212C probably damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Slc25a38 A G 9: 120,120,812 Y198C probably damaging Het
Sppl2a A T 2: 126,904,941 M489K possibly damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Olfr1337
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Olfr1337 APN 4 118782334 missense probably damaging 0.98
IGL02699:Olfr1337 APN 4 118782152 nonsense probably null
IGL02754:Olfr1337 APN 4 118781920 missense possibly damaging 0.90
IGL03287:Olfr1337 APN 4 118782354 missense possibly damaging 0.64
R1341:Olfr1337 UTSW 4 118782382 missense probably benign 0.01
R4894:Olfr1337 UTSW 4 118782286 missense probably damaging 1.00
R6124:Olfr1337 UTSW 4 118782195 missense probably damaging 1.00
R6515:Olfr1337 UTSW 4 118782270 missense probably benign 0.13
R6529:Olfr1337 UTSW 4 118781710 missense probably benign 0.15
R7040:Olfr1337 UTSW 4 118781986 missense probably benign 0.00
R7398:Olfr1337 UTSW 4 118781699 missense possibly damaging 0.80
R7684:Olfr1337 UTSW 4 118782274 missense probably benign 0.40
R8377:Olfr1337 UTSW 4 118782006 missense probably benign 0.22
Posted On2015-04-16