Incidental Mutation 'R0391:Olfr716'
ID 31692
Institutional Source Beutler Lab
Gene Symbol Olfr716
Ensembl Gene ENSMUSG00000073896
Gene Name olfactory receptor 716
Synonyms GA_x6K02T2PBJ9-9497411-9498355, MOR260-2
MMRRC Submission 038597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R0391 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107138327-107150581 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 107148187 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 290 (Y290*)
Ref Sequence ENSEMBL: ENSMUSP00000150175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098137] [ENSMUST00000209942] [ENSMUST00000210474] [ENSMUST00000213367] [ENSMUST00000214819] [ENSMUST00000215284] [ENSMUST00000216871]
AlphaFold Q9EPG6
Predicted Effect probably null
Transcript: ENSMUST00000098137
AA Change: Y290*
SMART Domains Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: Y290*

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 null
Transcript: ENSMUST00000213367
AA Change: Y290*
Predicted Effect probably null
Transcript: ENSMUST00000214819
AA Change: Y290*
Predicted Effect probably null
Transcript: ENSMUST00000215284
AA Change: Y290*
Predicted Effect probably null
Transcript: ENSMUST00000216871
AA Change: Y290*
Meta Mutation Damage Score 0.9661 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,701,177 (GRCm38) probably benign Het
Abcc2 G A 19: 43,821,605 (GRCm38) probably benign Het
Abcc8 C G 7: 46,122,173 (GRCm38) G838A probably damaging Het
Akr1c21 G A 13: 4,581,200 (GRCm38) A245T probably damaging Het
Anapc15-ps T C 10: 95,673,277 (GRCm38) E47G probably damaging Het
Apoa1 A G 9: 46,229,842 (GRCm38) T79A probably benign Het
Atp6v1b1 A G 6: 83,756,921 (GRCm38) H378R possibly damaging Het
C4b A G 17: 34,735,614 (GRCm38) probably benign Het
Catsperd A T 17: 56,662,821 (GRCm38) E638D probably benign Het
Cckar C T 5: 53,706,253 (GRCm38) probably null Het
Cfap100 C T 6: 90,405,339 (GRCm38) probably benign Het
Chd1 G T 17: 15,749,894 (GRCm38) G970C probably damaging Het
Col14a1 A G 15: 55,446,259 (GRCm38) probably benign Het
Col17a1 C T 19: 47,663,824 (GRCm38) V698M probably damaging Het
Cpeb1 T C 7: 81,361,725 (GRCm38) D156G possibly damaging Het
Cryl1 A G 14: 57,303,775 (GRCm38) Y151H possibly damaging Het
Csmd3 C A 15: 47,657,573 (GRCm38) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm38) A73T probably damaging Het
Cyp2c37 T C 19: 39,994,506 (GRCm38) S180P probably damaging Het
Cyp2c54 T C 19: 40,072,169 (GRCm38) T123A possibly damaging Het
Dennd6b T C 15: 89,187,214 (GRCm38) D304G probably damaging Het
Dnmt3l T C 10: 78,051,916 (GRCm38) probably benign Het
Eci1 G A 17: 24,433,260 (GRCm38) probably null Het
Efhc1 A G 1: 20,960,188 (GRCm38) Y115C probably damaging Het
Ern1 T A 11: 106,407,178 (GRCm38) K706* probably null Het
Fam129c T A 8: 71,602,499 (GRCm38) probably benign Het
Ghrl T C 6: 113,719,338 (GRCm38) E31G probably damaging Het
Gpr108 A C 17: 57,243,101 (GRCm38) V179G probably benign Het
Henmt1 A G 3: 108,958,535 (GRCm38) probably benign Het
Ift172 A G 5: 31,286,667 (GRCm38) V69A probably damaging Het
Il17ra T C 6: 120,476,979 (GRCm38) probably benign Het
Il17rb G T 14: 30,006,155 (GRCm38) probably null Het
Il17rb T C 14: 30,004,347 (GRCm38) N95D probably benign Het
Iqub G A 6: 24,446,155 (GRCm38) L757F probably benign Het
Itpr1 T C 6: 108,378,167 (GRCm38) V473A probably benign Het
Itpr2 T G 6: 146,229,773 (GRCm38) N1978H probably damaging Het
Klk1b26 T A 7: 44,012,727 (GRCm38) F3Y probably damaging Het
Lars A G 18: 42,251,363 (GRCm38) V50A probably benign Het
Lax1 G T 1: 133,680,066 (GRCm38) H312Q probably benign Het
Lctl T C 9: 64,122,314 (GRCm38) probably benign Het
Lrp2 G A 2: 69,460,337 (GRCm38) probably benign Het
Lrp2 T A 2: 69,456,858 (GRCm38) D3745V probably damaging Het
Lvrn A T 18: 46,850,466 (GRCm38) H92L probably benign Het
March1 A G 8: 66,418,973 (GRCm38) T385A probably damaging Het
Marf1 C T 16: 14,142,534 (GRCm38) A549T probably damaging Het
Mbd5 T C 2: 49,272,416 (GRCm38) V970A possibly damaging Het
Mccc1 A G 3: 35,963,570 (GRCm38) probably benign Het
Mpp4 A T 1: 59,143,829 (GRCm38) probably benign Het
Mrnip G A 11: 50,199,920 (GRCm38) A304T probably damaging Het
Muc5b T C 7: 141,865,082 (GRCm38) S3922P possibly damaging Het
Myh3 T A 11: 67,096,507 (GRCm38) probably benign Het
Nbea A T 3: 56,037,277 (GRCm38) H555Q probably damaging Het
Nlrp9c A T 7: 26,371,476 (GRCm38) probably benign Het
Nmur1 A T 1: 86,387,678 (GRCm38) V178E probably damaging Het
Nod2 T G 8: 88,663,778 (GRCm38) S238A probably benign Het
Ogfod1 A T 8: 94,063,023 (GRCm38) T451S probably damaging Het
Olfr145 G A 9: 37,897,842 (GRCm38) G146D probably benign Het
Olfr23 T C 11: 73,941,109 (GRCm38) F288L probably damaging Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Pcdh20 T C 14: 88,468,668 (GRCm38) I399V probably benign Het
Pdlim1 G T 19: 40,243,573 (GRCm38) H120Q probably damaging Het
Plg T C 17: 12,419,081 (GRCm38) V798A probably damaging Het
Polr2c A G 8: 94,857,775 (GRCm38) I39V possibly damaging Het
Ppfia2 C A 10: 106,830,714 (GRCm38) probably benign Het
Ppp1r3a A T 6: 14,719,697 (GRCm38) I406N probably benign Het
Psg28 A T 7: 18,426,173 (GRCm38) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm38) I419T probably damaging Het
Rnf43 A G 11: 87,731,282 (GRCm38) Q403R possibly damaging Het
Sema6a G A 18: 47,290,045 (GRCm38) probably null Het
Slc28a3 A G 13: 58,569,415 (GRCm38) probably benign Het
Smad2 A T 18: 76,289,037 (GRCm38) probably null Het
Smad4 G A 18: 73,658,649 (GRCm38) P274S probably benign Het
Smchd1 A T 17: 71,403,154 (GRCm38) V906D probably damaging Het
Soat2 C A 15: 102,158,753 (GRCm38) R320S possibly damaging Het
Spata33 C T 8: 123,221,887 (GRCm38) A57V probably damaging Het
Stab1 A G 14: 31,143,418 (GRCm38) L1814P probably benign Het
Stab2 T C 10: 86,947,144 (GRCm38) K680R probably benign Het
Stil A G 4: 115,041,172 (GRCm38) probably null Het
Sympk T A 7: 19,046,849 (GRCm38) L759H probably benign Het
Tet1 A T 10: 62,814,546 (GRCm38) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm38) N117K probably benign Het
Tle3 A G 9: 61,416,661 (GRCm38) Y766C probably damaging Het
Trpt1 C A 19: 6,997,930 (GRCm38) probably null Het
Tshz1 A G 18: 84,016,049 (GRCm38) F78S possibly damaging Het
Ttc1 T C 11: 43,738,808 (GRCm38) D177G probably damaging Het
Ttc13 T A 8: 124,674,401 (GRCm38) Y741F probably damaging Het
Ulk3 C T 9: 57,594,832 (GRCm38) S462L probably benign Het
Utrn C T 10: 12,525,333 (GRCm38) probably benign Het
V1rd19 A C 7: 24,003,585 (GRCm38) T159P probably damaging Het
Vars T C 17: 35,011,486 (GRCm38) V515A possibly damaging Het
Vmn1r85 A G 7: 13,084,588 (GRCm38) Y210H probably benign Het
Vmn2r89 A G 14: 51,455,978 (GRCm38) T262A probably damaging Het
Vps53 G A 11: 76,121,579 (GRCm38) T209I probably benign Het
Wdfy2 T C 14: 62,925,133 (GRCm38) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm38) S694Y probably damaging Het
Zbtb8b T A 4: 129,432,670 (GRCm38) D201V probably damaging Het
Zmym5 A C 14: 56,804,451 (GRCm38) N123K possibly damaging Het
Other mutations in Olfr716
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Olfr716 APN 7 107,147,696 (GRCm38) missense probably damaging 1.00
IGL02792:Olfr716 APN 7 107,148,218 (GRCm38) missense probably benign 0.00
IGL03300:Olfr716 APN 7 107,147,409 (GRCm38) missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107,147,712 (GRCm38) missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107,147,712 (GRCm38) missense probably damaging 1.00
R0962:Olfr716 UTSW 7 107,148,087 (GRCm38) missense possibly damaging 0.94
R1440:Olfr716 UTSW 7 107,148,198 (GRCm38) missense probably damaging 1.00
R5561:Olfr716 UTSW 7 107,148,090 (GRCm38) missense probably benign 0.05
R5700:Olfr716 UTSW 7 107,147,541 (GRCm38) missense probably benign
R5997:Olfr716 UTSW 7 107,147,328 (GRCm38) missense possibly damaging 0.79
R6262:Olfr716 UTSW 7 107,147,711 (GRCm38) missense probably damaging 1.00
R6922:Olfr716 UTSW 7 107,148,083 (GRCm38) missense probably damaging 0.98
R7076:Olfr716 UTSW 7 107,148,029 (GRCm38) missense probably damaging 1.00
R8025:Olfr716 UTSW 7 107,147,723 (GRCm38) missense possibly damaging 0.87
R9256:Olfr716 UTSW 7 107,148,180 (GRCm38) missense probably damaging 0.99
R9746:Olfr716 UTSW 7 107,147,453 (GRCm38) missense probably benign 0.14
Z1088:Olfr716 UTSW 7 107,148,212 (GRCm38) missense probably benign
Z1176:Olfr716 UTSW 7 107,148,155 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-24