Incidental Mutation 'IGL02312:Rnls'
ID 287841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnls
Ensembl Gene ENSMUSG00000071573
Gene Name renalase, FAD-dependent amine oxidase
Synonyms 6530404N21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02312
Quality Score
Status
Chromosome 19
Chromosomal Location 33115147-33369665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33145783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 112 (T112I)
Ref Sequence ENSEMBL: ENSMUSP00000127592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096114] [ENSMUST00000163093]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096114
AA Change: T230I

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093825
Gene: ENSMUSG00000071573
AA Change: T230I

DomainStartEndE-ValueType
Pfam:Amino_oxidase 13 292 7.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163093
AA Change: T112I

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127592
Gene: ENSMUSG00000071573
AA Change: T112I

DomainStartEndE-ValueType
PDB:3QJ4|B 1 182 1e-92 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,060,369 (GRCm39) V454E probably damaging Het
Atp7b G T 8: 22,484,786 (GRCm39) Q1424K probably damaging Het
Bicra T C 7: 15,727,066 (GRCm39) D30G possibly damaging Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Clint1 C T 11: 45,784,883 (GRCm39) T294M probably damaging Het
Cntnap5c C T 17: 58,445,694 (GRCm39) T578I probably benign Het
Col12a1 G T 9: 79,588,797 (GRCm39) T1106N probably damaging Het
Csta3 A G 16: 36,030,847 (GRCm39) probably benign Het
Dnah10 A G 5: 124,896,430 (GRCm39) Y3598C probably damaging Het
Dnaja3 A G 16: 4,512,300 (GRCm39) T235A probably benign Het
Eif2s1 T C 12: 78,926,790 (GRCm39) I180T probably damaging Het
Ergic1 C A 17: 26,848,601 (GRCm39) P108Q probably damaging Het
Fat2 T A 11: 55,161,085 (GRCm39) D3215V probably damaging Het
Galnt17 A T 5: 131,335,371 (GRCm39) I23N probably benign Het
Gpr20 C T 15: 73,568,275 (GRCm39) R38Q probably benign Het
Grin2b T C 6: 135,716,088 (GRCm39) D743G probably damaging Het
H2-T5 T C 17: 36,476,299 (GRCm39) I350V probably benign Het
Hmbs A G 9: 44,252,510 (GRCm39) probably null Het
Hunk T C 16: 90,272,829 (GRCm39) Y302H probably damaging Het
Mybph A T 1: 134,125,188 (GRCm39) I239F probably damaging Het
Ncoa3 G A 2: 165,899,120 (GRCm39) A821T probably benign Het
Nf1 A G 11: 79,335,474 (GRCm39) I979V possibly damaging Het
Or5w14 T C 2: 87,541,353 (GRCm39) E299G probably benign Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pdilt G A 7: 119,118,890 (GRCm39) T53M probably benign Het
Pdlim1 T C 19: 40,211,505 (GRCm39) T263A probably benign Het
Pik3cg A T 12: 32,244,820 (GRCm39) M878K possibly damaging Het
Plod1 T C 4: 148,010,614 (GRCm39) K279R probably benign Het
Plxna4 T C 6: 32,142,052 (GRCm39) T1602A possibly damaging Het
Rb1cc1 T A 1: 6,335,847 (GRCm39) probably null Het
Ropn1 G A 16: 34,497,647 (GRCm39) V180I probably benign Het
Rptor T C 11: 119,737,741 (GRCm39) Y605H possibly damaging Het
Sidt2 T C 9: 45,858,299 (GRCm39) Y80C probably benign Het
Slit1 A T 19: 41,590,119 (GRCm39) V1389E possibly damaging Het
Spz1 G A 13: 92,712,393 (GRCm39) P28S probably benign Het
Sult1c2 T A 17: 54,269,458 (GRCm39) M257L probably benign Het
Tent2 C T 13: 93,312,041 (GRCm39) V220I probably benign Het
Tm2d3 T C 7: 65,348,917 (GRCm39) probably null Het
Uqcr10 T C 11: 4,654,153 (GRCm39) probably null Het
Other mutations in Rnls
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Rnls APN 19 33,145,888 (GRCm39) missense probably benign 0.03
IGL01554:Rnls APN 19 33,368,499 (GRCm39) missense possibly damaging 0.47
IGL02392:Rnls APN 19 33,180,012 (GRCm39) missense possibly damaging 0.86
IGL02525:Rnls APN 19 33,115,614 (GRCm39) missense possibly damaging 0.49
IGL02646:Rnls APN 19 33,115,684 (GRCm39) splice site probably benign
IGL03097:Rnls APN 19 33,115,679 (GRCm39) splice site probably benign
R1232:Rnls UTSW 19 33,180,046 (GRCm39) missense probably benign 0.00
R1832:Rnls UTSW 19 33,145,895 (GRCm39) missense possibly damaging 0.95
R1844:Rnls UTSW 19 33,179,931 (GRCm39) missense possibly damaging 0.94
R2063:Rnls UTSW 19 33,179,944 (GRCm39) missense probably benign 0.00
R5255:Rnls UTSW 19 33,359,823 (GRCm39) missense probably damaging 1.00
R6140:Rnls UTSW 19 33,115,600 (GRCm39) missense probably damaging 1.00
R6986:Rnls UTSW 19 33,359,781 (GRCm39) missense probably damaging 1.00
R8260:Rnls UTSW 19 33,180,048 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16