Incidental Mutation 'IGL01720:Olfr700'
ID105051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr700
Ensembl Gene ENSMUSG00000094493
Gene Nameolfactory receptor 700
SynonymsGA_x6K02T2PBJ9-9184187-9183237, MOR283-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01720
Quality Score
Status
Chromosome7
Chromosomal Location106805395-106808834 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106806209 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 84 (D84E)
Ref Sequence ENSEMBL: ENSMUSP00000150320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079936] [ENSMUST00000214840]
Predicted Effect probably damaging
Transcript: ENSMUST00000079936
AA Change: D84E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078855
Gene: ENSMUSG00000094493
AA Change: D84E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.7e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.6e-5 PFAM
Pfam:7tm_1 41 290 3.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209339
Predicted Effect probably damaging
Transcript: ENSMUST00000214840
AA Change: D84E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apc2 T C 10: 80,314,499 S1796P probably benign Het
Asxl3 A T 18: 22,525,325 I2131F probably damaging Het
Cdc42bpa T A 1: 180,111,282 D833E probably damaging Het
Cenpc1 A G 5: 86,045,425 S202P possibly damaging Het
Cenpf T C 1: 189,682,386 E178G probably benign Het
Cenpf T C 1: 189,651,215 Y2636C probably damaging Het
Chkb C T 15: 89,427,952 probably null Het
Cldn20 A G 17: 3,533,100 T183A probably benign Het
Cpne8 C T 15: 90,501,500 V442I probably benign Het
Cx3cl1 T A 8: 94,778,073 M39K probably damaging Het
Dgkd T A 1: 87,936,765 L124Q probably damaging Het
Fam180a T C 6: 35,313,565 H161R probably benign Het
Galt C A 4: 41,757,463 R212S probably damaging Het
Gja10 T C 4: 32,601,007 D459G probably benign Het
Glb1 T C 9: 114,420,505 probably null Het
Gm13089 T A 4: 143,696,840 probably benign Het
Gm4981 A C 10: 58,236,389 M1R probably null Het
Gm5709 A T 3: 59,606,554 noncoding transcript Het
Igf2r A G 17: 12,701,313 Y1380H probably damaging Het
Jag1 C T 2: 137,087,103 G811D probably damaging Het
Lrguk T C 6: 34,043,477 F52S probably damaging Het
Lrrc15 A T 16: 30,273,320 N400K probably benign Het
Map3k12 A G 15: 102,502,186 probably benign Het
Mbnl2 C T 14: 120,325,270 T11I probably damaging Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mgat4a G A 1: 37,444,898 A497V probably damaging Het
Mrpl49 C A 19: 6,055,157 M91I possibly damaging Het
Olfr450 G A 6: 42,817,593 V41I probably benign Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Ppp1r13b T C 12: 111,858,260 T102A probably benign Het
Prodh2 A G 7: 30,511,203 D393G probably damaging Het
Pyroxd1 A G 6: 142,351,058 probably benign Het
Rad17 A T 13: 100,622,858 C554S possibly damaging Het
Rapgef5 T C 12: 117,613,435 probably benign Het
Setdb2 A G 14: 59,423,436 V86A possibly damaging Het
Slc38a2 A T 15: 96,691,211 probably benign Het
Slc9c1 A G 16: 45,555,769 Y406C probably damaging Het
Slit1 T C 19: 41,634,214 D702G probably benign Het
Stat3 T C 11: 100,903,658 H275R possibly damaging Het
Susd5 T A 9: 114,063,984 N43K possibly damaging Het
Ttc3 A T 16: 94,385,369 K124N probably damaging Het
Usp36 C A 11: 118,275,002 R165L probably damaging Het
Vwf G A 6: 125,642,835 R1492Q possibly damaging Het
Wdr66 A G 5: 123,322,494 D1173G probably benign Het
Zbed6 A G 1: 133,657,526 V691A possibly damaging Het
Other mutations in Olfr700
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Olfr700 APN 7 106806435 missense probably benign 0.03
IGL01474:Olfr700 APN 7 106805940 missense probably benign 0.23
R0501:Olfr700 UTSW 7 106805811 missense probably damaging 1.00
R2061:Olfr700 UTSW 7 106805768 missense probably benign 0.00
R2511:Olfr700 UTSW 7 106805961 missense probably damaging 1.00
R2876:Olfr700 UTSW 7 106805997 missense probably benign 0.00
R3816:Olfr700 UTSW 7 106805820 missense probably damaging 1.00
R3910:Olfr700 UTSW 7 106805865 missense probably damaging 1.00
R3911:Olfr700 UTSW 7 106805865 missense probably damaging 1.00
R3912:Olfr700 UTSW 7 106805865 missense probably damaging 1.00
R4855:Olfr700 UTSW 7 106806256 missense probably benign 0.01
R4864:Olfr700 UTSW 7 106805964 missense probably damaging 1.00
R5101:Olfr700 UTSW 7 106806213 missense possibly damaging 0.53
R5335:Olfr700 UTSW 7 106805734 missense probably damaging 1.00
R6217:Olfr700 UTSW 7 106806072 missense probably damaging 1.00
R6880:Olfr700 UTSW 7 106805812 missense probably damaging 1.00
Posted On2014-01-21