Incidental Mutation 'IGL01096:Or4p19'
ID 50495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p19
Ensembl Gene ENSMUSG00000081836
Gene Name olfactory receptor family 4 subfamily P member 19
Synonyms GA_x6K02T2Q125-49900552-49899623, MOR225-1, Olfr1180
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01096
Quality Score
Status
Chromosome 2
Chromosomal Location 88241971-88243033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88242135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 289 (M289T)
Ref Sequence ENSEMBL: ENSMUSP00000150965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099824] [ENSMUST00000216121] [ENSMUST00000217320]
AlphaFold Q0VB29
Predicted Effect probably damaging
Transcript: ENSMUST00000099824
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097412
Gene: ENSMUSG00000081836
AA Change: M289T

DomainStartEndE-ValueType
Pfam:7tm_4 26 300 2.8e-47 PFAM
Pfam:7tm_1 36 282 2.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216121
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217320
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Alk T C 17: 72,228,891 (GRCm39) K725E possibly damaging Het
Castor1 A C 11: 4,171,850 (GRCm39) E309A probably damaging Het
Dspp T A 5: 104,323,233 (GRCm39) H125Q possibly damaging Het
Elmo2 A T 2: 165,138,907 (GRCm39) probably benign Het
Erg A G 16: 95,190,912 (GRCm39) probably benign Het
Fam20c A G 5: 138,794,910 (GRCm39) E513G possibly damaging Het
Gm9839 G T 1: 32,559,917 (GRCm39) T55N possibly damaging Het
Gpd2 A T 2: 57,228,879 (GRCm39) M228L probably damaging Het
Hp A T 8: 110,302,033 (GRCm39) M305K probably benign Het
Ifng T A 10: 118,281,174 (GRCm39) probably benign Het
Igkv9-123 T C 6: 67,931,449 (GRCm39) D39G possibly damaging Het
Melk T A 4: 44,347,262 (GRCm39) F431I probably benign Het
Or10ak12 A G 4: 118,666,653 (GRCm39) V136A probably damaging Het
Or12j5 A T 7: 140,084,097 (GRCm39) S92T probably damaging Het
Or51k1 A C 7: 103,661,321 (GRCm39) L196W probably damaging Het
Or8g27 G A 9: 39,129,412 (GRCm39) G253D probably damaging Het
Pappa T C 4: 65,107,553 (GRCm39) Y655H probably damaging Het
Prss58 A T 6: 40,872,399 (GRCm39) I208N probably damaging Het
Ryr2 T A 13: 11,718,430 (GRCm39) I2720F probably damaging Het
Slc13a1 G T 6: 24,104,076 (GRCm39) T322K probably damaging Het
Spag17 T C 3: 99,970,691 (GRCm39) F1292L probably benign Het
Tbx5 A G 5: 120,021,091 (GRCm39) T366A probably benign Het
Tmeff2 G A 1: 50,969,705 (GRCm39) probably benign Het
Tmem101 C A 11: 102,045,378 (GRCm39) probably null Het
Tpp2 C A 1: 44,000,048 (GRCm39) P389T probably damaging Het
Tyk2 A G 9: 21,020,159 (GRCm39) Y1000H probably damaging Het
Ush2a C A 1: 188,410,574 (GRCm39) N2407K probably damaging Het
Vmn1r94 C T 7: 19,901,561 (GRCm39) V248I probably damaging Het
Vmn2r12 T A 5: 109,234,125 (GRCm39) I696F probably damaging Het
Vmn2r83 A G 10: 79,313,662 (GRCm39) E90G probably damaging Het
Washc5 T C 15: 59,222,060 (GRCm39) probably benign Het
Wee2 A G 6: 40,440,187 (GRCm39) E445G probably benign Het
Zfp518b T C 5: 38,830,131 (GRCm39) T625A probably benign Het
Other mutations in Or4p19
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4531001:Or4p19 UTSW 2 88,242,104 (GRCm39) missense probably benign 0.03
R0402:Or4p19 UTSW 2 88,242,378 (GRCm39) missense probably damaging 0.99
R1196:Or4p19 UTSW 2 88,242,890 (GRCm39) missense probably damaging 1.00
R1557:Or4p19 UTSW 2 88,242,555 (GRCm39) missense possibly damaging 0.65
R1695:Or4p19 UTSW 2 88,242,444 (GRCm39) missense probably damaging 0.98
R1840:Or4p19 UTSW 2 88,242,411 (GRCm39) missense probably benign 0.08
R2014:Or4p19 UTSW 2 88,242,388 (GRCm39) missense probably benign 0.03
R2042:Or4p19 UTSW 2 88,242,546 (GRCm39) missense possibly damaging 0.81
R5241:Or4p19 UTSW 2 88,242,442 (GRCm39) missense possibly damaging 0.60
R6043:Or4p19 UTSW 2 88,242,589 (GRCm39) missense probably benign 0.01
R7023:Or4p19 UTSW 2 88,242,759 (GRCm39) missense probably damaging 1.00
R7153:Or4p19 UTSW 2 88,242,462 (GRCm39) missense probably damaging 1.00
R7269:Or4p19 UTSW 2 88,242,839 (GRCm39) missense possibly damaging 0.94
R8711:Or4p19 UTSW 2 88,242,595 (GRCm39) missense probably damaging 1.00
R8783:Or4p19 UTSW 2 88,242,951 (GRCm39) missense probably benign 0.01
R8784:Or4p19 UTSW 2 88,242,091 (GRCm39) missense probably benign 0.00
R8991:Or4p19 UTSW 2 88,242,723 (GRCm39) missense probably damaging 1.00
Z1176:Or4p19 UTSW 2 88,242,330 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21