Incidental Mutation 'IGL02517:Or11h6'
ID 296820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11h6
Ensembl Gene ENSMUSG00000050028
Gene Name olfactory receptor family 11 subfamily H member 6
Synonyms GA_x6K02T2PMLR-6361495-6362481, Olfr745, MOR106-11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02517
Quality Score
Status
Chromosome 14
Chromosomal Location 50879652-50880826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50880658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 301 (T301A)
Ref Sequence ENSEMBL: ENSMUSP00000153971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062534] [ENSMUST00000213127] [ENSMUST00000218546]
AlphaFold Q7TRL9
Predicted Effect probably benign
Transcript: ENSMUST00000062534
AA Change: T307A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050184
Gene: ENSMUSG00000050028
AA Change: T307A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:7tm_4 44 324 6.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 51 191 6.6e-6 PFAM
Pfam:7tm_1 57 306 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206749
Predicted Effect probably benign
Transcript: ENSMUST00000213127
AA Change: T301A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216105
Predicted Effect probably benign
Transcript: ENSMUST00000218546
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
Or5an6 A T 19: 12,372,265 (GRCm39) I213F 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 Or11h6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Or11h6 APN 14 50,880,625 (GRCm39) missense probably benign 0.02
IGL02316:Or11h6 APN 14 50,879,744 (GRCm39) missense probably benign 0.25
IGL02377:Or11h6 APN 14 50,879,975 (GRCm39) splice site probably null
IGL02471:Or11h6 APN 14 50,880,214 (GRCm39) missense probably benign 0.43
IGL02486:Or11h6 APN 14 50,880,089 (GRCm39) missense probably damaging 1.00
R0453:Or11h6 UTSW 14 50,880,461 (GRCm39) missense possibly damaging 0.90
R0727:Or11h6 UTSW 14 50,880,460 (GRCm39) missense probably damaging 0.98
R0746:Or11h6 UTSW 14 50,880,232 (GRCm39) splice site probably null
R1638:Or11h6 UTSW 14 50,880,565 (GRCm39) missense possibly damaging 0.93
R1688:Or11h6 UTSW 14 50,880,705 (GRCm39) missense probably benign 0.04
R1991:Or11h6 UTSW 14 50,880,323 (GRCm39) missense possibly damaging 0.90
R2245:Or11h6 UTSW 14 50,880,062 (GRCm39) missense probably damaging 1.00
R3758:Or11h6 UTSW 14 50,880,493 (GRCm39) missense possibly damaging 0.96
R4084:Or11h6 UTSW 14 50,880,305 (GRCm39) missense probably damaging 0.98
R5033:Or11h6 UTSW 14 50,880,619 (GRCm39) missense probably damaging 1.00
R5211:Or11h6 UTSW 14 50,880,710 (GRCm39) missense possibly damaging 0.78
R5302:Or11h6 UTSW 14 50,879,776 (GRCm39) splice site probably null
R5645:Or11h6 UTSW 14 50,880,524 (GRCm39) missense probably benign 0.00
R5731:Or11h6 UTSW 14 50,880,248 (GRCm39) missense probably damaging 1.00
R6917:Or11h6 UTSW 14 50,880,680 (GRCm39) missense possibly damaging 0.67
R7408:Or11h6 UTSW 14 50,879,852 (GRCm39) missense probably benign 0.16
R7716:Or11h6 UTSW 14 50,879,815 (GRCm39) missense probably benign 0.17
R7728:Or11h6 UTSW 14 50,879,849 (GRCm39) missense probably benign 0.00
R8208:Or11h6 UTSW 14 50,880,088 (GRCm39) missense probably benign 0.28
R8447:Or11h6 UTSW 14 50,880,008 (GRCm39) missense probably benign 0.00
R8726:Or11h6 UTSW 14 50,880,703 (GRCm39) missense probably benign 0.00
R8748:Or11h6 UTSW 14 50,880,211 (GRCm39) missense probably benign 0.19
R9279:Or11h6 UTSW 14 50,880,493 (GRCm39) missense possibly damaging 0.96
Posted On 2015-04-16