Incidental Mutation 'IGL02132:Olfr726'
ID281025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr726
Ensembl Gene ENSMUSG00000060523
Gene Nameolfactory receptor 726
SynonymsMOR246-4, GA_x6K02T2PMLR-5775299-5774334
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02132
Quality Score
Status
Chromosome14
Chromosomal Location50083570-50090953 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50084486 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 65 (N65S)
Ref Sequence ENSEMBL: ENSMUSP00000149373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072370] [ENSMUST00000206834] [ENSMUST00000213345] [ENSMUST00000215105] [ENSMUST00000215278] [ENSMUST00000217025] [ENSMUST00000217319] [ENSMUST00000217422]
Predicted Effect probably damaging
Transcript: ENSMUST00000072370
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: N65S

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.3e-47 PFAM
Pfam:7TM_GPCR_Srsx 36 288 5.4e-8 PFAM
Pfam:7tm_1 41 287 7.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205951
AA Change: N65S
Predicted Effect probably damaging
Transcript: ENSMUST00000206834
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213345
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215105
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215278
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217025
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217319
AA Change: N65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217422
AA Change: N65S

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,778,730 probably benign Het
4930432E11Rik C T 7: 29,563,279 noncoding transcript Het
Adcy10 T C 1: 165,572,543 V1507A probably damaging Het
Ap3b2 T A 7: 81,460,998 M1010L unknown Het
Bmp10 T C 6: 87,434,148 S308P probably benign Het
Cnih3 C A 1: 181,454,709 Y169* probably null Het
Cpsf4l A G 11: 113,699,859 S222P possibly damaging Het
Cyp2d10 G A 15: 82,404,607 probably benign Het
Dcstamp A T 15: 39,754,532 E112D probably damaging Het
Fras1 C T 5: 96,781,637 Q3967* probably null Het
Gcm1 C A 9: 78,064,839 P354H possibly damaging Het
Gen1 A G 12: 11,241,866 S706P probably benign Het
Glb1l3 G T 9: 26,825,170 T532N probably benign Het
Gm5069 T A 1: 180,327,307 probably benign Het
Gzmc A C 14: 56,233,965 F40V probably benign Het
Itgb2 G T 10: 77,550,061 C286F probably damaging Het
Jak3 A G 8: 71,678,480 Y48C probably damaging Het
Lrp2 G A 2: 69,537,616 S184L probably benign Het
Myo1f T A 17: 33,579,971 N203K probably benign Het
Nrxn2 G A 19: 6,472,276 G182R probably damaging Het
Olfr1000 A C 2: 85,608,320 L197V probably benign Het
Olfr1208 A G 2: 88,897,159 V146A probably benign Het
Otog C T 7: 46,305,479 S2692L probably damaging Het
Pde9a C T 17: 31,453,470 T34I probably benign Het
Phip T C 9: 82,881,341 T1295A possibly damaging Het
Pik3cb A G 9: 99,071,377 V451A probably benign Het
Psd2 T G 18: 36,004,756 probably benign Het
Pycr2 T C 1: 180,906,197 I118T probably damaging Het
Rnf17 T G 14: 56,421,166 M104R probably benign Het
Rp1l1 T C 14: 64,028,810 V615A probably benign Het
Sel1l3 T A 5: 53,170,405 R511W possibly damaging Het
Sis T C 3: 72,947,471 N478D probably benign Het
Trps1 T A 15: 50,822,278 S584C probably damaging Het
Vmn2r124 T C 17: 18,064,229 probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zc3h13 T C 14: 75,330,347 S1027P probably benign Het
Zfp644 A T 5: 106,635,894 I929K probably benign Het
Other mutations in Olfr726
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Olfr726 APN 14 50083997 missense probably benign 0.00
IGL01432:Olfr726 APN 14 50083947 missense probably benign 0.07
IGL01788:Olfr726 APN 14 50084502 missense probably damaging 1.00
IGL01957:Olfr726 APN 14 50084280 missense probably benign 0.00
R0611:Olfr726 UTSW 14 50083853 missense probably damaging 1.00
R0689:Olfr726 UTSW 14 50084232 missense probably benign 0.01
R1556:Olfr726 UTSW 14 50084459 missense possibly damaging 0.90
R1710:Olfr726 UTSW 14 50084370 missense probably benign 0.01
R1791:Olfr726 UTSW 14 50084042 missense probably benign 0.03
R1804:Olfr726 UTSW 14 50083902 missense probably damaging 0.99
R1853:Olfr726 UTSW 14 50084120 missense probably damaging 1.00
R2034:Olfr726 UTSW 14 50083983 missense probably benign 0.34
R3155:Olfr726 UTSW 14 50084525 missense probably benign 0.09
R3156:Olfr726 UTSW 14 50084525 missense probably benign 0.09
R3939:Olfr726 UTSW 14 50083716 makesense probably null
R4392:Olfr726 UTSW 14 50084603 missense probably benign 0.24
R4533:Olfr726 UTSW 14 50083699 unclassified probably null
R4694:Olfr726 UTSW 14 50084019 missense probably benign
R5183:Olfr726 UTSW 14 50084546 missense probably damaging 0.99
R5859:Olfr726 UTSW 14 50084027 missense probably damaging 1.00
R6186:Olfr726 UTSW 14 50084525 missense probably damaging 0.98
R6357:Olfr726 UTSW 14 50083989 missense probably damaging 0.99
R6771:Olfr726 UTSW 14 50083989 missense probably damaging 0.99
R6834:Olfr726 UTSW 14 50084228 missense probably damaging 0.99
R6924:Olfr726 UTSW 14 50083850 missense possibly damaging 0.91
Posted On2015-04-16