Incidental Mutation 'IGL02517:Or5an6'
ID 296822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5an6
Ensembl Gene ENSMUSG00000046650
Gene Name olfactory receptor family 5 subfamily AN member 6
Synonyms MOR215-1, GA_x6K02T2RE5P-2725206-2726153, Olfr1440
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02517
Quality Score
Status
Chromosome 19
Chromosomal Location 12371629-12372576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12372265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 213 (I213F)
Ref Sequence ENSEMBL: ENSMUSP00000148978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054567] [ENSMUST00000213657] [ENSMUST00000213894] [ENSMUST00000216145] [ENSMUST00000217062]
AlphaFold Q8VFV4
Predicted Effect probably benign
Transcript: ENSMUST00000054567
AA Change: I213F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054798
Gene: ENSMUSG00000046650
AA Change: I213F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.5e-52 PFAM
Pfam:7tm_1 42 291 7.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208644
AA Change: I213F
Predicted Effect probably benign
Transcript: ENSMUST00000213657
AA Change: I213F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213894
AA Change: I213F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214082
Predicted Effect probably benign
Transcript: ENSMUST00000216145
AA Change: I213F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216169
Predicted Effect probably benign
Transcript: ENSMUST00000217062
AA Change: I213F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216773
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T G 4: 49,380,647 (GRCm39) M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 (GRCm39) C228* probably null Het
Adam24 T C 8: 41,133,218 (GRCm39) S229P probably damaging Het
Alpk3 T C 7: 80,727,643 (GRCm39) S258P probably benign Het
Atad2b A G 12: 5,068,037 (GRCm39) T1012A probably benign Het
Bltp1 A G 3: 37,013,017 (GRCm39) E1899G probably damaging Het
C4b A T 17: 34,953,382 (GRCm39) S1034T probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Chrna4 C T 2: 180,670,926 (GRCm39) V277I probably benign Het
Col3a1 A G 1: 45,364,963 (GRCm39) probably null Het
Dpep2 C T 8: 106,715,388 (GRCm39) V369M probably damaging Het
Eml2 T A 7: 18,940,055 (GRCm39) N815K probably damaging Het
Enpp3 A G 10: 24,685,746 (GRCm39) probably benign Het
Git1 T C 11: 77,390,413 (GRCm39) V86A probably benign Het
Hivep2 C T 10: 14,006,926 (GRCm39) P1175S probably benign Het
Hydin T C 8: 111,293,604 (GRCm39) I3517T probably benign Het
Ift172 T A 5: 31,410,992 (GRCm39) probably null Het
Jmy A G 13: 93,589,316 (GRCm39) I647T probably benign Het
Kifap3 T A 1: 163,653,440 (GRCm39) probably benign Het
Lama3 G A 18: 12,670,915 (GRCm39) probably null Het
Lipa A C 19: 34,471,522 (GRCm39) I351S possibly damaging Het
Ltbp2 G T 12: 84,832,091 (GRCm39) A1631D probably benign Het
Masp2 A G 4: 148,698,477 (GRCm39) I519M probably damaging Het
Mfsd6 A G 1: 52,702,436 (GRCm39) probably benign Het
Numa1 T G 7: 101,661,216 (GRCm39) D1846E probably benign Het
Oog3 A T 4: 143,885,920 (GRCm39) I226K probably damaging Het
Or11h6 A G 14: 50,880,658 (GRCm39) T301A probably benign Het
Or8b3b T C 9: 38,584,209 (GRCm39) Y177C probably damaging Het
Or8g53 T G 9: 39,683,800 (GRCm39) T99P probably damaging Het
Or9s13 A T 1: 92,548,183 (GRCm39) Y185F probably benign Het
Pkdcc T C 17: 83,531,295 (GRCm39) S435P probably damaging Het
Ppm1g A G 5: 31,365,425 (GRCm39) Y70H probably damaging Het
Prcc C T 3: 87,776,984 (GRCm39) S330N probably damaging Het
Ror2 A T 13: 53,272,876 (GRCm39) L251Q probably damaging Het
Scn11a A G 9: 119,621,464 (GRCm39) L651P probably damaging Het
Skint6 A T 4: 112,805,737 (GRCm39) probably benign Het
Slc23a4 A G 6: 34,931,917 (GRCm39) F186L probably benign Het
Slc30a8 A T 15: 52,198,530 (GRCm39) D325V probably benign Het
Son C T 16: 91,452,099 (GRCm39) T282M possibly damaging Het
Tas2r118 A T 6: 23,969,891 (GRCm39) F57I probably damaging Het
Tcf7l1 A G 6: 72,606,966 (GRCm39) S447P probably benign Het
Thsd1 T A 8: 22,733,454 (GRCm39) V167E probably damaging Het
Tle3 T C 9: 61,322,063 (GRCm39) V696A probably damaging Het
Tmem67 A T 4: 12,069,463 (GRCm39) I405K possibly damaging Het
Tmem71 A C 15: 66,413,466 (GRCm39) V202G probably benign Het
Trim6 T C 7: 103,881,564 (GRCm39) probably benign Het
Trip12 A G 1: 84,721,535 (GRCm39) probably benign Het
Ubr1 A C 2: 120,694,854 (GRCm39) C1693G possibly damaging Het
Ush2a G A 1: 188,648,195 (GRCm39) R4600H probably damaging Het
Vil1 A G 1: 74,465,851 (GRCm39) I547M probably benign Het
Vmn1r219 A T 13: 23,347,266 (GRCm39) I152L probably benign Het
Vmn1r26 A G 6: 57,986,127 (GRCm39) F21L possibly damaging Het
Vmn2r45 T A 7: 8,486,185 (GRCm39) K368* probably null Het
Vmn2r68 C T 7: 84,871,153 (GRCm39) W710* probably null Het
Zfp808 T A 13: 62,321,032 (GRCm39) *754R probably null Het
Zyg11b C T 4: 108,123,515 (GRCm39) E151K probably damaging Het
Other mutations in Or5an6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Or5an6 APN 19 12,372,263 (GRCm39) missense probably damaging 0.97
IGL03173:Or5an6 APN 19 12,372,410 (GRCm39) missense possibly damaging 0.79
IGL03412:Or5an6 APN 19 12,371,743 (GRCm39) missense probably damaging 1.00
F5770:Or5an6 UTSW 19 12,371,914 (GRCm39) missense probably benign 0.19
R0240:Or5an6 UTSW 19 12,372,327 (GRCm39) missense probably benign 0.01
R0240:Or5an6 UTSW 19 12,372,327 (GRCm39) missense probably benign 0.01
R1184:Or5an6 UTSW 19 12,372,221 (GRCm39) missense probably benign 0.02
R1430:Or5an6 UTSW 19 12,371,801 (GRCm39) missense probably benign 0.34
R4111:Or5an6 UTSW 19 12,371,665 (GRCm39) missense probably damaging 1.00
R5751:Or5an6 UTSW 19 12,371,780 (GRCm39) missense probably benign 0.01
R6796:Or5an6 UTSW 19 12,372,292 (GRCm39) missense probably damaging 0.99
R7392:Or5an6 UTSW 19 12,371,829 (GRCm39) missense probably damaging 1.00
R8048:Or5an6 UTSW 19 12,371,719 (GRCm39) missense not run
R9612:Or5an6 UTSW 19 12,371,983 (GRCm39) missense probably damaging 0.99
V7580:Or5an6 UTSW 19 12,371,914 (GRCm39) missense probably benign 0.19
Z1088:Or5an6 UTSW 19 12,371,663 (GRCm39) missense probably benign 0.37
Posted On 2015-04-16