Incidental Mutation 'IGL01288:Or6f2'
ID 72796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6f2
Ensembl Gene ENSMUSG00000051051
Gene Name olfactory receptor family 6 subfamily F member 2
Synonyms Olfr523, GA_x6K02T2PBJ9-42327937-42328872, MOR104-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01288
Quality Score
Status
Chromosome 7
Chromosomal Location 139756017-139756970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139756528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 165 (L165P)
Ref Sequence ENSEMBL: ENSMUSP00000149562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]
AlphaFold Q8VFE7
Predicted Effect probably damaging
Transcript: ENSMUST00000055890
AA Change: L171P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: L171P

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_4 40 317 1.6e-50 PFAM
Pfam:7tm_1 50 299 1.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209314
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213953
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214272
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215785
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216023
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,507,381 (GRCm39) probably benign Het
Acsl3 G T 1: 78,677,476 (GRCm39) W490L possibly damaging Het
Ahnak A G 19: 8,979,858 (GRCm39) I381V possibly damaging Het
Aox1 A G 1: 58,333,566 (GRCm39) Y261C probably damaging Het
Ap3m2 T C 8: 23,293,931 (GRCm39) T40A probably benign Het
Arfgef1 C T 1: 10,283,436 (GRCm39) A158T possibly damaging Het
Atp1a4 T C 1: 172,085,474 (GRCm39) E43G possibly damaging Het
Cog5 C T 12: 31,936,205 (GRCm39) T584I probably benign Het
Cpa1 G A 6: 30,640,582 (GRCm39) V75M probably damaging Het
Cul7 A G 17: 46,968,733 (GRCm39) probably benign Het
Dennd2b A G 7: 109,139,029 (GRCm39) I668T probably damaging Het
Dop1b T C 16: 93,536,181 (GRCm39) I93T possibly damaging Het
Dyrk2 T C 10: 118,696,604 (GRCm39) Y218C probably damaging Het
Efr3b T C 12: 4,032,865 (GRCm39) Y164C probably damaging Het
Etos1 C A 7: 130,373,935 (GRCm39) probably benign Het
Fam13a A G 6: 58,933,712 (GRCm39) Y293H probably damaging Het
Gde1 A T 7: 118,290,863 (GRCm39) V154D possibly damaging Het
Glyat A G 19: 12,627,719 (GRCm39) T105A possibly damaging Het
Il36b A T 2: 24,049,925 (GRCm39) I179L probably benign Het
Kif21b C T 1: 136,099,922 (GRCm39) T1492M probably benign Het
Kmt2d G T 15: 98,762,925 (GRCm39) P282T probably damaging Het
Lgi4 A G 7: 30,768,468 (GRCm39) E489G probably benign Het
Lipn A C 19: 34,056,435 (GRCm39) E260D probably benign Het
Mdn1 A G 4: 32,730,864 (GRCm39) D2911G probably benign Het
Nab2 C T 10: 127,500,978 (GRCm39) R38Q probably damaging Het
Or1e35 A T 11: 73,798,139 (GRCm39) Y60N probably damaging Het
Or4c1 A T 2: 89,133,816 (GRCm39) V40E possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or52i2 A G 7: 102,319,858 (GRCm39) T244A probably damaging Het
Or5t16 C A 2: 86,818,598 (GRCm39) M307I probably benign Het
Osbpl6 T C 2: 76,395,167 (GRCm39) S337P probably damaging Het
Phf8 T C X: 150,330,921 (GRCm39) probably null Het
Pik3c2b C T 1: 133,022,543 (GRCm39) H1162Y probably damaging Het
Plek2 T C 12: 78,941,727 (GRCm39) D134G possibly damaging Het
Rnf139 G A 15: 58,771,028 (GRCm39) R351H probably damaging Het
Shld2 A T 14: 33,981,600 (GRCm39) Y513N probably benign Het
Skint5 T C 4: 113,381,332 (GRCm39) probably benign Het
Slc12a9 C T 5: 137,329,200 (GRCm39) probably null Het
Stradb C A 1: 59,031,460 (GRCm39) H216N possibly damaging Het
Tex15 C T 8: 34,061,412 (GRCm39) H281Y probably benign Het
Tg G T 15: 66,608,125 (GRCm39) V237L possibly damaging Het
Tns1 T A 1: 73,992,969 (GRCm39) T570S probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Wdfy3 G T 5: 102,049,857 (GRCm39) probably null Het
Zc3h12c A G 9: 52,028,951 (GRCm39) probably benign Het
Zmynd8 T A 2: 165,654,734 (GRCm39) S584C probably damaging Het
Other mutations in Or6f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Or6f2 APN 7 139,756,447 (GRCm39) missense probably benign 0.00
D3080:Or6f2 UTSW 7 139,756,275 (GRCm39) missense possibly damaging 0.94
R0503:Or6f2 UTSW 7 139,756,354 (GRCm39) missense possibly damaging 0.95
R1644:Or6f2 UTSW 7 139,756,561 (GRCm39) missense probably benign 0.12
R1760:Or6f2 UTSW 7 139,756,188 (GRCm39) missense probably damaging 1.00
R1852:Or6f2 UTSW 7 139,756,474 (GRCm39) nonsense probably null
R1960:Or6f2 UTSW 7 139,756,596 (GRCm39) missense probably benign 0.37
R2363:Or6f2 UTSW 7 139,756,878 (GRCm39) missense probably damaging 1.00
R3700:Or6f2 UTSW 7 139,756,127 (GRCm39) missense possibly damaging 0.54
R4626:Or6f2 UTSW 7 139,756,359 (GRCm39) missense probably damaging 1.00
R4678:Or6f2 UTSW 7 139,756,141 (GRCm39) missense probably benign 0.21
R4779:Or6f2 UTSW 7 139,756,363 (GRCm39) missense probably damaging 1.00
R4999:Or6f2 UTSW 7 139,756,933 (GRCm39) missense probably damaging 1.00
R5663:Or6f2 UTSW 7 139,756,234 (GRCm39) missense probably damaging 1.00
R7352:Or6f2 UTSW 7 139,756,438 (GRCm39) missense probably damaging 1.00
R8525:Or6f2 UTSW 7 139,756,255 (GRCm39) missense probably damaging 0.99
R8976:Or6f2 UTSW 7 139,756,885 (GRCm39) missense probably damaging 0.96
R9034:Or6f2 UTSW 7 139,756,884 (GRCm39) missense probably benign 0.08
Posted On 2013-10-07