Incidental Mutation 'IGL02120:Or13n4'
ID 280544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13n4
Ensembl Gene ENSMUSG00000056863
Gene Name olfactory receptor family 13 subfamily N member 4
Synonyms GA_x6K02T2PBJ9-9202245-9201289, MOR260-4, Olfr702
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02120
Quality Score
Status
Chromosome 7
Chromosomal Location 106422696-106425950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 106422905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 276 (V276G)
Ref Sequence ENSEMBL: ENSMUSP00000151862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075414] [ENSMUST00000080899] [ENSMUST00000166880] [ENSMUST00000208864] [ENSMUST00000208895] [ENSMUST00000217739] [ENSMUST00000219803]
AlphaFold Q920Z2
Predicted Effect probably benign
Transcript: ENSMUST00000075414
SMART Domains Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-46 PFAM
Pfam:7tm_1 41 290 2.3e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000080899
AA Change: V276G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079704
Gene: ENSMUSG00000056863
AA Change: V276G

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 2.7e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 300 2.9e-8 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166880
SMART Domains Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.8e-31 PFAM
Pfam:7tm_4 139 283 1.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208864
Predicted Effect probably benign
Transcript: ENSMUST00000208895
Predicted Effect probably benign
Transcript: ENSMUST00000217739
Predicted Effect possibly damaging
Transcript: ENSMUST00000219803
AA Change: V276G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,087,654 (GRCm39) Y1037C probably damaging Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd33b T C 15: 31,367,202 (GRCm39) T113A possibly damaging Het
Aox3 T A 1: 58,166,809 (GRCm39) N177K probably benign Het
Arhgap29 T A 3: 121,797,906 (GRCm39) V532E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Caskin1 G T 17: 24,719,916 (GRCm39) G401V probably damaging Het
Cemip A T 7: 83,600,771 (GRCm39) M950K probably damaging Het
Cfap107 C T 4: 144,144,981 (GRCm39) R195H probably benign Het
Chrd T C 16: 20,553,291 (GRCm39) V211A probably damaging Het
Ckap2l T C 2: 129,127,542 (GRCm39) N212S possibly damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Dlst T C 12: 85,165,342 (GRCm39) S82P probably benign Het
Dmxl1 T A 18: 50,027,245 (GRCm39) L2118M possibly damaging Het
Dnah7a T C 1: 53,534,876 (GRCm39) K2795E possibly damaging Het
Enpp5 T A 17: 44,391,736 (GRCm39) M55K probably benign Het
Epdr1 A T 13: 19,778,641 (GRCm39) S50T probably damaging Het
Gm7808 T A 9: 19,839,313 (GRCm39) probably benign Het
Huwe1 T A X: 150,690,386 (GRCm39) F2485I possibly damaging Het
Kcnb2 C T 1: 15,780,085 (GRCm39) T319M probably damaging Het
Lama1 G A 17: 68,023,784 (GRCm39) V60M probably damaging Het
Lingo3 A T 10: 80,671,693 (GRCm39) L79Q probably damaging Het
Magi2 T A 5: 20,433,451 (GRCm39) probably null Het
Mob2 C A 7: 141,564,035 (GRCm39) V33L possibly damaging Het
Mus81 G A 19: 5,535,661 (GRCm39) probably benign Het
Nup210l G A 3: 90,044,169 (GRCm39) G490D probably damaging Het
Pbp2 A G 6: 135,286,816 (GRCm39) V177A probably damaging Het
Pomt2 T C 12: 87,158,326 (GRCm39) D656G probably benign Het
Ppp2r1b A G 9: 50,773,069 (GRCm39) probably benign Het
Prp2rt G T 13: 97,235,285 (GRCm39) probably benign Het
Ptprq T C 10: 107,503,333 (GRCm39) E775G probably damaging Het
Rad54l T C 4: 115,956,181 (GRCm39) I549V probably benign Het
Ranbp10 T C 8: 106,532,214 (GRCm39) Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 (GRCm39) T223S probably benign Het
Stxbp6 G T 12: 44,948,831 (GRCm39) probably benign Het
Syne2 A G 12: 75,993,480 (GRCm39) D2085G probably damaging Het
Szt2 C T 4: 118,245,761 (GRCm39) R1064Q probably benign Het
Taar3 A G 10: 23,826,065 (GRCm39) T204A probably benign Het
Tdpoz1 A G 3: 93,577,750 (GRCm39) S345P probably damaging Het
Tgm4 T A 9: 122,875,594 (GRCm39) I149N probably damaging Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Vegfc T C 8: 54,634,436 (GRCm39) F372L possibly damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vwf C A 6: 125,592,997 (GRCm39) L786M probably benign Het
Other mutations in Or13n4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Or13n4 APN 7 106,423,236 (GRCm39) missense probably benign 0.01
R0025:Or13n4 UTSW 7 106,422,963 (GRCm39) missense possibly damaging 0.74
R1213:Or13n4 UTSW 7 106,423,404 (GRCm39) missense possibly damaging 0.48
R1830:Or13n4 UTSW 7 106,423,317 (GRCm39) missense probably benign 0.00
R2216:Or13n4 UTSW 7 106,423,205 (GRCm39) missense probably damaging 0.99
R2571:Or13n4 UTSW 7 106,422,933 (GRCm39) missense probably benign 0.09
R2876:Or13n4 UTSW 7 106,423,664 (GRCm39) missense probably benign 0.07
R2920:Or13n4 UTSW 7 106,423,571 (GRCm39) missense probably benign 0.11
R4082:Or13n4 UTSW 7 106,423,245 (GRCm39) missense possibly damaging 0.78
R4130:Or13n4 UTSW 7 106,422,792 (GRCm39) missense probably benign 0.01
R4750:Or13n4 UTSW 7 106,423,514 (GRCm39) missense probably damaging 0.98
R5007:Or13n4 UTSW 7 106,423,364 (GRCm39) missense probably damaging 1.00
R5117:Or13n4 UTSW 7 106,422,869 (GRCm39) missense probably damaging 0.99
R5908:Or13n4 UTSW 7 106,423,404 (GRCm39) missense probably benign 0.09
R6824:Or13n4 UTSW 7 106,423,664 (GRCm39) missense probably benign 0.00
R7193:Or13n4 UTSW 7 106,423,798 (GRCm39) start gained probably benign
R7254:Or13n4 UTSW 7 106,422,777 (GRCm39) makesense probably null
R7827:Or13n4 UTSW 7 106,422,932 (GRCm39) missense probably benign 0.01
R8309:Or13n4 UTSW 7 106,423,620 (GRCm39) missense probably benign 0.00
R8410:Or13n4 UTSW 7 106,423,745 (GRCm39) start gained probably benign
R9353:Or13n4 UTSW 7 106,423,062 (GRCm39) missense probably benign 0.00
R9386:Or13n4 UTSW 7 106,423,707 (GRCm39) missense probably benign
R9562:Or13n4 UTSW 7 106,423,020 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16