Incidental Mutation 'IGL01347:Or6n2'
ID 75107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6n2
Ensembl Gene ENSMUSG00000050134
Gene Name olfactory receptor family 6 subfamily N member 2
Synonyms GA_x6K02T2P20D-21108443-21107490, MOR105-5P, Olfr430
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01347
Quality Score
Status
Chromosome 1
Chromosomal Location 173896866-173897819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173897632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 256 (I256T)
Ref Sequence ENSEMBL: ENSMUSP00000150930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055873] [ENSMUST00000213425] [ENSMUST00000214390]
AlphaFold E9Q5F1
Predicted Effect probably benign
Transcript: ENSMUST00000055873
AA Change: I256T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130615
Gene: ENSMUSG00000050134
AA Change: I256T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.4e-65 PFAM
Pfam:7tm_1 41 290 9.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213425
AA Change: I256T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214390
AA Change: I256T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Or6n2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02279:Or6n2 APN 1 173,896,957 (GRCm39) missense probably null 1.00
IGL02537:Or6n2 APN 1 173,897,020 (GRCm39) missense possibly damaging 0.63
R0323:Or6n2 UTSW 1 173,896,893 (GRCm39) missense probably benign
R0627:Or6n2 UTSW 1 173,897,643 (GRCm39) missense probably damaging 1.00
R1079:Or6n2 UTSW 1 173,897,032 (GRCm39) missense possibly damaging 0.95
R1757:Or6n2 UTSW 1 173,897,224 (GRCm39) missense probably damaging 1.00
R1902:Or6n2 UTSW 1 173,897,692 (GRCm39) missense probably damaging 0.96
R3804:Or6n2 UTSW 1 173,897,474 (GRCm39) missense probably damaging 1.00
R3927:Or6n2 UTSW 1 173,896,878 (GRCm39) missense probably damaging 1.00
R3930:Or6n2 UTSW 1 173,897,147 (GRCm39) missense probably damaging 1.00
R3931:Or6n2 UTSW 1 173,897,147 (GRCm39) missense probably damaging 1.00
R4111:Or6n2 UTSW 1 173,896,999 (GRCm39) missense probably damaging 1.00
R4210:Or6n2 UTSW 1 173,897,574 (GRCm39) missense probably damaging 0.98
R4383:Or6n2 UTSW 1 173,897,043 (GRCm39) missense probably benign 0.34
R4651:Or6n2 UTSW 1 173,897,394 (GRCm39) missense possibly damaging 0.54
R5097:Or6n2 UTSW 1 173,897,095 (GRCm39) missense probably benign 0.22
R5385:Or6n2 UTSW 1 173,897,036 (GRCm39) missense probably benign 0.31
R5722:Or6n2 UTSW 1 173,897,436 (GRCm39) missense probably damaging 1.00
R6608:Or6n2 UTSW 1 173,897,295 (GRCm39) missense probably benign 0.00
R6643:Or6n2 UTSW 1 173,897,611 (GRCm39) missense probably damaging 1.00
R7316:Or6n2 UTSW 1 173,897,727 (GRCm39) missense probably benign 0.00
R7532:Or6n2 UTSW 1 173,897,664 (GRCm39) missense probably benign 0.37
R8141:Or6n2 UTSW 1 173,897,488 (GRCm39) missense probably damaging 0.99
R9102:Or6n2 UTSW 1 173,897,176 (GRCm39) missense probably damaging 1.00
R9351:Or6n2 UTSW 1 173,897,021 (GRCm39) missense probably benign 0.00
Z1088:Or6n2 UTSW 1 173,897,515 (GRCm39) missense probably damaging 1.00
Z1176:Or6n2 UTSW 1 173,897,080 (GRCm39) missense probably damaging 0.99
Z1176:Or6n2 UTSW 1 173,896,897 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07