Incidental Mutation 'IGL00162:Or2ag19'
ID 1456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2ag19
Ensembl Gene ENSMUSG00000073901
Gene Name olfactory receptor family 2 subfamily AG member 19
Synonyms MOR283-7, Olfr703, GA_x6K02T2PBJ9-9222217-9223176
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL00162
Quality Score
Status
Chromosome 7
Chromosomal Location 106443820-106444779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106444574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 252 (Y252C)
Ref Sequence ENSEMBL: ENSMUSP00000149022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098142] [ENSMUST00000216254]
AlphaFold Q9EPF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000098142
AA Change: Y252C

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095746
Gene: ENSMUSG00000073901
AA Change: Y252C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.8e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 305 2.4e-8 PFAM
Pfam:7tm_1 41 290 1.7e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216254
AA Change: Y252C

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
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
Cc2d1b T G 4: 108,484,575 (GRCm39) L470R probably damaging Het
Cd96 A T 16: 45,892,162 (GRCm39) N275K possibly damaging Het
Col22a1 A G 15: 71,732,807 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,662 (GRCm39) H197R probably damaging Het
Dlgap1 T C 17: 70,823,080 (GRCm39) S22P probably benign Het
Dnajc6 A G 4: 101,365,286 (GRCm39) probably benign Het
Fgf6 A T 6: 127,001,048 (GRCm39) K185N possibly damaging Het
Fshr T C 17: 89,293,619 (GRCm39) N353S probably damaging Het
Gabbr1 T A 17: 37,359,335 (GRCm39) Y103* probably null Het
Gm7247 G A 14: 51,760,962 (GRCm39) C177Y possibly damaging Het
Hikeshi A G 7: 89,584,989 (GRCm39) F72L probably damaging Het
Ikzf4 T C 10: 128,470,416 (GRCm39) E368G probably benign Het
Kdm3b A G 18: 34,942,462 (GRCm39) E851G probably benign Het
Kif3b A G 2: 153,159,051 (GRCm39) D284G probably damaging Het
Kyat3 G A 3: 142,440,235 (GRCm39) A320T probably benign Het
Mok C T 12: 110,774,631 (GRCm39) probably benign Het
Mrgpra3 A G 7: 47,239,267 (GRCm39) F220L probably benign Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Or10ag58 A G 2: 87,265,407 (GRCm39) H192R probably benign Het
Pikfyve T A 1: 65,299,280 (GRCm39) probably null Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Ptpn12 T C 5: 21,234,848 (GRCm39) E45G probably damaging Het
Ralgps1 A T 2: 33,027,694 (GRCm39) *516R probably null Het
Rps23rg1 A G 8: 3,633,904 (GRCm39) T2A probably benign Het
Senp6 A G 9: 80,023,892 (GRCm39) D385G probably damaging Het
Siglech T C 7: 55,422,339 (GRCm39) probably benign Het
Slit1 A G 19: 41,639,274 (GRCm39) L212P probably damaging Het
Smchd1 T A 17: 71,772,668 (GRCm39) probably benign Het
Snapc4 A T 2: 26,259,324 (GRCm39) C609S probably benign Het
Strn3 T C 12: 51,707,979 (GRCm39) T139A possibly damaging Het
Tcaf3 T C 6: 42,570,319 (GRCm39) T478A probably benign Het
Tlr3 A G 8: 45,853,727 (GRCm39) S198P probably damaging Het
Ttn C T 2: 76,720,823 (GRCm39) probably benign Het
Vil1 G A 1: 74,463,034 (GRCm39) E406K probably damaging Het
Zfp462 A G 4: 55,011,483 (GRCm39) probably null Het
Zfyve9 A G 4: 108,499,304 (GRCm39) V1338A possibly damaging Het
Other mutations in Or2ag19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Or2ag19 APN 7 106,443,956 (GRCm39) missense probably damaging 1.00
IGL02169:Or2ag19 APN 7 106,444,473 (GRCm39) nonsense probably null
IGL03376:Or2ag19 APN 7 106,444,677 (GRCm39) missense probably damaging 1.00
R0045:Or2ag19 UTSW 7 106,444,596 (GRCm39) nonsense probably null
R0662:Or2ag19 UTSW 7 106,443,856 (GRCm39) missense probably benign 0.01
R1589:Or2ag19 UTSW 7 106,444,403 (GRCm39) missense possibly damaging 0.57
R1869:Or2ag19 UTSW 7 106,444,301 (GRCm39) missense probably benign 0.01
R2431:Or2ag19 UTSW 7 106,444,598 (GRCm39) missense possibly damaging 0.95
R4021:Or2ag19 UTSW 7 106,444,226 (GRCm39) missense probably damaging 1.00
R5280:Or2ag19 UTSW 7 106,443,902 (GRCm39) missense probably benign 0.01
R6352:Or2ag19 UTSW 7 106,444,429 (GRCm39) missense probably damaging 1.00
R6932:Or2ag19 UTSW 7 106,444,009 (GRCm39) nonsense probably null
R7037:Or2ag19 UTSW 7 106,444,543 (GRCm39) missense probably damaging 1.00
R7909:Or2ag19 UTSW 7 106,444,199 (GRCm39) missense probably benign 0.29
R8510:Or2ag19 UTSW 7 106,444,130 (GRCm39) missense probably benign 0.44
R8825:Or2ag19 UTSW 7 106,444,636 (GRCm39) missense probably damaging 0.97
Posted On 2011-07-12