Incidental Mutation 'IGL01901:Olfr612'
ID179523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr612
Ensembl Gene ENSMUSG00000094119
Gene Nameolfactory receptor 612
SynonymsMOR15-3, GA_x6K02T2PBJ9-6251685-6250741, EG545985
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01901
Quality Score
Status
Chromosome7
Chromosomal Location103537222-103542717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103538970 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 88 (L88Q)
Ref Sequence ENSEMBL: ENSMUSP00000149996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104879] [ENSMUST00000214269] [ENSMUST00000215663]
Predicted Effect probably damaging
Transcript: ENSMUST00000104879
AA Change: L88Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100473
Gene: ENSMUSG00000094119
AA Change: L88Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.3e-109 PFAM
Pfam:7TM_GPCR_Srsx 37 309 4.7e-11 PFAM
Pfam:7tm_1 43 294 3.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214269
AA Change: L88Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215663
AA Change: L88Q

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
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, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,682,584 F1172L probably benign Het
Adam2 A G 14: 66,035,229 probably benign Het
Aldh1a7 T G 19: 20,717,739 Y154S probably damaging Het
BC117090 C A 16: 36,334,263 A11S probably damaging Het
Casc3 A G 11: 98,823,121 D393G probably damaging Het
Cd180 A G 13: 102,706,428 I661V probably benign Het
Cdh1 T C 8: 106,657,760 S287P probably damaging Het
Clnk T C 5: 38,794,978 N6S probably damaging Het
Cyp17a1 C T 19: 46,671,092 V100M possibly damaging Het
Ddhd2 A G 8: 25,748,594 V53A probably damaging Het
Elovl7 T A 13: 108,274,393 probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14180 A G 11: 99,734,227 S22P unknown Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Golga5 G A 12: 102,479,802 probably null Het
Gpr162 A T 6: 124,861,407 F93L possibly damaging Het
Kcnh8 G A 17: 52,894,120 probably benign Het
Lamp3 A T 16: 19,673,419 F358L probably damaging Het
Mdn1 T G 4: 32,669,591 D409E probably damaging Het
Ms4a10 T C 19: 10,963,010 D211G probably benign Het
Ms4a3 T C 19: 11,639,266 E4G possibly damaging Het
Myo15 A G 11: 60,527,434 probably benign Het
Olfr1257 A G 2: 89,881,482 I219V probably damaging Het
Olfr1448 T C 19: 12,919,583 H242R probably damaging Het
Olfr638 A G 7: 104,004,067 H264R probably damaging Het
Olfr698 A G 7: 106,752,545 V281A possibly damaging Het
Olfr815 A G 10: 129,901,853 F286L probably benign Het
Penk T C 4: 4,134,465 I61V probably benign Het
Pkhd1 T A 1: 20,220,083 K2860N probably benign Het
Prtg C T 9: 72,855,066 P492S probably damaging Het
Tdrd7 T C 4: 45,989,225 probably benign Het
Terf2ip A G 8: 112,012,068 N196S probably benign Het
Tgtp1 T C 11: 48,987,555 N108D possibly damaging Het
Thumpd3 A G 6: 113,059,971 H277R probably benign Het
Tshz2 T A 2: 169,885,536 L215Q possibly damaging Het
Ube3c T A 5: 29,668,007 V1015E probably damaging Het
Utrn T A 10: 12,640,928 K2307N probably damaging Het
Vmn1r75 A G 7: 11,880,812 Y157C probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Olfr612
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:Olfr612 APN 7 103538574 missense probably damaging 1.00
R1200:Olfr612 UTSW 7 103539067 missense probably benign 0.01
R1591:Olfr612 UTSW 7 103539067 missense probably benign 0.00
R1858:Olfr612 UTSW 7 103538652 missense probably damaging 1.00
R1975:Olfr612 UTSW 7 103538994 missense probably damaging 1.00
R1994:Olfr612 UTSW 7 103538359 missense possibly damaging 0.57
R3690:Olfr612 UTSW 7 103539067 missense probably benign 0.01
R4635:Olfr612 UTSW 7 103539148 missense probably benign 0.00
R4670:Olfr612 UTSW 7 103539186 missense possibly damaging 0.89
R5267:Olfr612 UTSW 7 103538824 missense probably benign 0.19
R5417:Olfr612 UTSW 7 103538763 missense possibly damaging 0.94
R6644:Olfr612 UTSW 7 103539058 missense possibly damaging 0.94
Posted On2014-05-07