Incidental Mutation 'IGL02792:Olfr716'
ID359804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr716
Ensembl Gene ENSMUSG00000073896
Gene Nameolfactory receptor 716
SynonymsGA_x6K02T2PBJ9-9497411-9498355, MOR260-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02792
Quality Score
Status
Chromosome7
Chromosomal Location107138327-107150581 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107148218 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 301 (F301L)
Ref Sequence ENSEMBL: ENSMUSP00000150175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098137] [ENSMUST00000209942] [ENSMUST00000210474] [ENSMUST00000213367] [ENSMUST00000214819] [ENSMUST00000215284] [ENSMUST00000216871]
Predicted Effect probably benign
Transcript: ENSMUST00000098137
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: F301L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.4e-57 PFAM
Pfam:7tm_1 41 290 3.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209942
Predicted Effect probably benign
Transcript: ENSMUST00000210474
Predicted Effect probably benign
Transcript: ENSMUST00000213367
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214819
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215284
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216871
AA Change: F301L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adh7 A T 3: 138,223,737 K89I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klk13 A G 7: 43,721,414 E29G possibly damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Poc1a A T 9: 106,295,194 I207F possibly damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Relb A T 7: 19,613,864 L281Q probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L probably damaging Het
Zfpm2 C A 15: 41,103,013 Q833K probably benign Het
Other mutations in Olfr716
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Olfr716 APN 7 107147696 missense probably damaging 1.00
IGL03300:Olfr716 APN 7 107147409 missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107147712 missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107147712 missense probably damaging 1.00
R0391:Olfr716 UTSW 7 107148187 nonsense probably null
R0962:Olfr716 UTSW 7 107148087 missense possibly damaging 0.94
R1440:Olfr716 UTSW 7 107148198 missense probably damaging 1.00
R5561:Olfr716 UTSW 7 107148090 missense probably benign 0.05
R5700:Olfr716 UTSW 7 107147541 missense probably benign
R5997:Olfr716 UTSW 7 107147328 missense possibly damaging 0.79
R6262:Olfr716 UTSW 7 107147711 missense probably damaging 1.00
R6922:Olfr716 UTSW 7 107148083 missense probably damaging 0.98
R7076:Olfr716 UTSW 7 107148029 missense probably damaging 1.00
R8025:Olfr716 UTSW 7 107147723 missense possibly damaging 0.87
Z1088:Olfr716 UTSW 7 107148212 missense probably benign
Z1176:Olfr716 UTSW 7 107148155 missense probably benign 0.12
Posted On2015-12-18