Incidental Mutation 'IGL01321:Or2ag19'
ID 74047
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 # IGL01321
Quality Score
Status
Chromosome 7
Chromosomal Location 106443820-106444779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106443956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 46 (L46P)
Ref Sequence ENSEMBL: ENSMUSP00000149022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098142] [ENSMUST00000216254]
AlphaFold Q9EPF5
Predicted Effect probably damaging
Transcript: ENSMUST00000098142
AA Change: L46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095746
Gene: ENSMUSG00000073901
AA Change: L46P

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 probably damaging
Transcript: ENSMUST00000216254
AA Change: L46P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Adamts5 T C 16: 85,696,363 (GRCm39) R265G probably benign Het
Cd2ap T C 17: 43,156,280 (GRCm39) S86G possibly damaging Het
Cers3 A C 7: 66,435,751 (GRCm39) probably benign Het
Dnaaf2 G T 12: 69,243,376 (GRCm39) P562T probably damaging Het
Dnajc21 A C 15: 10,447,188 (GRCm39) V520G probably benign Het
Dync1h1 A G 12: 110,592,041 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,211 (GRCm39) N733D probably benign Het
Gm5499 T A 17: 87,385,928 (GRCm39) noncoding transcript Het
Gstm6 T C 3: 107,848,379 (GRCm39) Q180R probably benign Het
Hdlbp G A 1: 93,351,524 (GRCm39) R460W probably damaging Het
Ift81 T C 5: 122,749,031 (GRCm39) D40G probably damaging Het
Igsf3 T A 3: 101,334,338 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,147 (GRCm39) T158A probably benign Het
Lrrc59 C T 11: 94,529,426 (GRCm39) R167* probably null Het
Macf1 A G 4: 123,334,567 (GRCm39) C4397R probably damaging Het
Morc1 T C 16: 48,402,825 (GRCm39) S583P probably benign Het
Mucl3 A T 17: 35,947,758 (GRCm39) N490K probably damaging Het
Nipsnap2 T A 5: 129,834,205 (GRCm39) *282R probably null Het
Or9m1b A T 2: 87,836,589 (GRCm39) C178S probably damaging Het
Parp14 T A 16: 35,676,929 (GRCm39) Q1013L probably benign Het
Pdzd8 A C 19: 59,289,961 (GRCm39) S480A probably benign Het
Piezo1 A T 8: 123,214,339 (GRCm39) S1609R probably damaging Het
Pkp4 G A 2: 59,180,971 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,327 (GRCm39) V106D probably damaging Het
Rimbp2 T C 5: 128,863,816 (GRCm39) Y724C probably benign Het
Rpgrip1l A T 8: 91,987,501 (GRCm39) L852* probably null Het
Samd9l T A 6: 3,376,259 (GRCm39) D334V probably benign Het
Sipa1l2 G A 8: 126,218,257 (GRCm39) T360M probably damaging Het
Slc30a2 A T 4: 134,070,611 (GRCm39) D5V probably damaging Het
Spata31 T C 13: 65,069,568 (GRCm39) I572T probably benign Het
Tma16 G A 8: 66,929,512 (GRCm39) L161F probably benign Het
Trappc2b A T 11: 51,576,670 (GRCm39) V76D probably damaging Het
Trim69 A T 2: 122,003,765 (GRCm39) E238V possibly damaging Het
Zfhx4 A G 3: 5,307,388 (GRCm39) T205A probably benign Het
Other mutations in Or2ag19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Or2ag19 APN 7 106,444,574 (GRCm39) missense possibly damaging 0.78
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 2013-10-07