Incidental Mutation 'IGL03214:Olfr699'
ID413408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr699
Ensembl Gene ENSMUSG00000096714
Gene Nameolfactory receptor 699
SynonymsMOR283-10P, GA_x6K02T2PBJ9-9168355-9167405
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03214
Quality Score
Status
Chromosome7
Chromosomal Location106787963-106793198 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106790345 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 219 (I219L)
Ref Sequence ENSEMBL: ENSMUSP00000149112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065024] [ENSMUST00000215952] [ENSMUST00000216307]
Predicted Effect probably benign
Transcript: ENSMUST00000065024
AA Change: I219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: I219L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 303 2.1e-5 PFAM
Pfam:7tm_1 41 290 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215952
AA Change: I219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216307
AA Change: I219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,167,054 probably benign Het
Asb5 T C 8: 54,585,063 V207A probably benign Het
Atxn3 G T 12: 101,945,922 probably benign Het
Brwd1 T C 16: 96,037,900 D857G probably benign Het
Cacna1i A G 15: 80,355,716 N322S probably benign Het
Dcun1d1 A T 3: 35,919,071 W92R probably damaging Het
Dnah7a A C 1: 53,522,209 probably null Het
Enpep T C 3: 129,293,247 D581G probably benign Het
Fam135a G A 1: 24,053,276 L201F probably damaging Het
Gm14496 T G 2: 182,000,536 L667V probably damaging Het
Grk4 T A 5: 34,752,209 M539K probably benign Het
Itpr2 A G 6: 146,180,244 V2261A probably benign Het
Krtap5-2 A G 7: 142,175,014 S310P unknown Het
Mme A T 3: 63,329,690 Y232F possibly damaging Het
Mtmr4 T C 11: 87,597,693 Y58H probably damaging Het
Myh13 T C 11: 67,353,585 S983P possibly damaging Het
Nbas A G 12: 13,331,110 probably benign Het
Neb T A 2: 52,197,844 T5448S possibly damaging Het
Neb C T 2: 52,159,548 G6428R probably damaging Het
Olfr1156 T A 2: 87,950,071 Q54L probably benign Het
Olfr31 A T 14: 14,328,284 M58L probably damaging Het
Olfr472 T C 7: 107,902,966 M83T probably benign Het
Olfr598 G T 7: 103,328,666 S60I possibly damaging Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Phex A T X: 157,177,504 N681K probably damaging Het
Plekha8 C A 6: 54,635,770 A454E probably damaging Het
Rbfa C A 18: 80,197,291 K152N probably benign Het
Satb2 C A 1: 56,845,580 S513I probably damaging Het
Slc4a2 G T 5: 24,434,881 R520L probably benign Het
Slfn14 T C 11: 83,279,000 H606R probably benign Het
Smc1b G A 15: 85,097,946 Q716* probably null Het
Syncrip C T 9: 88,464,643 probably benign Het
Vmn2r30 T A 7: 7,334,260 I126F probably benign Het
Vps13c C T 9: 67,897,195 A762V probably null Het
Wdr64 C A 1: 175,743,635 probably benign Het
Wisp3 T C 10: 39,153,167 N255S probably benign Het
Other mutations in Olfr699
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Olfr699 APN 7 106790589 missense probably benign 0.12
IGL02093:Olfr699 APN 7 106790823 missense probably benign 0.12
IGL02404:Olfr699 APN 7 106790359 missense probably damaging 1.00
IGL03230:Olfr699 APN 7 106790704 missense probably damaging 1.00
R0194:Olfr699 UTSW 7 106790823 missense probably benign 0.12
R0523:Olfr699 UTSW 7 106790326 missense probably damaging 1.00
R1132:Olfr699 UTSW 7 106790551 missense possibly damaging 0.94
R1373:Olfr699 UTSW 7 106790756 missense probably benign 0.01
R1482:Olfr699 UTSW 7 106790333 missense probably benign 0.00
R1498:Olfr699 UTSW 7 106790416 missense possibly damaging 0.78
R1500:Olfr699 UTSW 7 106790821 missense probably damaging 1.00
R2656:Olfr699 UTSW 7 106790513 missense probably damaging 0.98
R4163:Olfr699 UTSW 7 106790279 missense probably damaging 1.00
R4638:Olfr699 UTSW 7 106790998 start codon destroyed probably null 1.00
R5104:Olfr699 UTSW 7 106790332 missense possibly damaging 0.81
R6216:Olfr699 UTSW 7 106790458 missense probably benign 0.23
R6976:Olfr699 UTSW 7 106790227 missense probably damaging 0.99
R7129:Olfr699 UTSW 7 106790483 missense probably benign 0.00
R7130:Olfr699 UTSW 7 106790182 missense probably benign 0.35
R8104:Olfr699 UTSW 7 106791130 start gained probably benign
R8104:Olfr699 UTSW 7 106791131 start gained probably benign
Z1177:Olfr699 UTSW 7 106790270 missense probably damaging 1.00
Posted On2016-08-02