Incidental Mutation 'IGL02392:Rnls'
ID294274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnls
Ensembl Gene ENSMUSG00000071573
Gene Namerenalase, FAD-dependent amine oxidase
Synonyms6530404N21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02392
Quality Score
Status
Chromosome19
Chromosomal Location33137747-33392295 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33202612 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000127592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096114] [ENSMUST00000163093]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096114
AA Change: V146A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093825
Gene: ENSMUSG00000071573
AA Change: V146A

DomainStartEndE-ValueType
Pfam:Amino_oxidase 13 292 7.8e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163093
AA Change: V28A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127592
Gene: ENSMUSG00000071573
AA Change: V28A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C2cd6 T C 1: 59,094,838 N8S probably benign Het
Cdh8 G A 8: 99,030,755 T737M probably damaging Het
Celsr3 T C 9: 108,834,721 probably benign Het
Cenph T A 13: 100,772,761 Q46L probably benign Het
Dlg5 A G 14: 24,150,209 C1395R probably damaging Het
Dnah8 C T 17: 30,818,051 probably benign Het
Dolk T C 2: 30,285,728 N102D probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Farp2 G A 1: 93,577,650 R368Q probably damaging Het
Fermt3 A T 19: 7,018,815 M4K probably benign Het
Fndc8 A C 11: 82,898,603 T196P probably damaging Het
Galc G A 12: 98,207,413 T630I probably damaging Het
Gm21970 T G 16: 91,414,657 S128A possibly damaging Het
Gpr146 T C 5: 139,392,778 S112P probably damaging Het
Grip2 A G 6: 91,787,295 S51P probably damaging Het
Htra2 G T 6: 83,054,299 T43N possibly damaging Het
Lnpep T C 17: 17,579,183 Y70C possibly damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mtdh A T 15: 34,099,577 N158Y probably damaging Het
Neo1 A T 9: 58,925,811 H550Q possibly damaging Het
Olfr480 A C 7: 108,066,503 F68L probably benign Het
Olfr93 C T 17: 37,151,088 V295I probably benign Het
Pex1 C T 5: 3,605,952 Q260* probably null Het
Pex6 T C 17: 46,723,499 V758A probably damaging Het
Ppil2 T C 16: 17,088,838 T500A probably benign Het
Qsox1 T C 1: 155,812,600 E67G probably damaging Het
Rimbp2 C T 5: 128,771,797 S895N probably benign Het
Spidr T C 16: 15,889,630 *934W probably null Het
Spta1 A T 1: 174,218,814 M1654L probably damaging Het
Srbd1 C A 17: 85,988,373 V870F probably benign Het
Suco A T 1: 161,834,567 M765K probably benign Het
Taok1 A G 11: 77,549,352 Y610H probably benign Het
Thbs1 A G 2: 118,114,660 N238S probably benign Het
Them7 T A 2: 105,378,875 L180* probably null Het
Trim45 A G 3: 100,925,305 I285V probably benign Het
Trim66 T C 7: 109,460,274 K921R probably benign Het
Ttn A G 2: 76,771,543 S10265P probably damaging Het
Vgll3 A T 16: 65,815,670 Y13F probably damaging Het
Ylpm1 T A 12: 85,014,957 M544K unknown Het
Zmym1 T A 4: 127,048,463 S711C probably damaging Het
Other mutations in Rnls
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Rnls APN 19 33168488 missense probably benign 0.03
IGL01554:Rnls APN 19 33391099 missense possibly damaging 0.47
IGL02312:Rnls APN 19 33168383 missense probably benign 0.36
IGL02525:Rnls APN 19 33138214 missense possibly damaging 0.49
IGL02646:Rnls APN 19 33138284 splice site probably benign
IGL03097:Rnls APN 19 33138279 splice site probably benign
R1232:Rnls UTSW 19 33202646 missense probably benign 0.00
R1832:Rnls UTSW 19 33168495 missense possibly damaging 0.95
R1844:Rnls UTSW 19 33202531 missense possibly damaging 0.94
R2063:Rnls UTSW 19 33202544 missense probably benign 0.00
R5255:Rnls UTSW 19 33382423 missense probably damaging 1.00
R6140:Rnls UTSW 19 33138200 missense probably damaging 1.00
R6986:Rnls UTSW 19 33382381 missense probably damaging 1.00
Posted On2015-04-16