Incidental Mutation 'IGL02391:Adprhl2'
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ID293874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adprhl2
Ensembl Gene ENSMUSG00000042558
Gene NameADP-ribosylhydrolase like 2
SynonymsArh3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02391
Quality Score
Status
Chromosome4
Chromosomal Location126316047-126321703 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 126317908 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000070132] [ENSMUST00000102616] [ENSMUST00000102617]
PDB Structure
Crystal Structure of mouse ADP-ribosylhydrolase 3 (mARH3) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000030658
SMART Domains Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845

DomainStartEndE-ValueType
Pfam:Tektin 17 399 2.1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070132
SMART Domains Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 25 33 N/A INTRINSIC
low complexity region 60 69 N/A INTRINSIC
low complexity region 72 105 N/A INTRINSIC
Pfam:Collagen 116 168 1.2e-9 PFAM
low complexity region 207 237 N/A INTRINSIC
internal_repeat_1 240 259 1.3e-7 PROSPERO
low complexity region 260 327 N/A INTRINSIC
low complexity region 342 387 N/A INTRINSIC
internal_repeat_1 388 407 1.3e-7 PROSPERO
low complexity region 408 429 N/A INTRINSIC
low complexity region 440 459 N/A INTRINSIC
low complexity region 471 530 N/A INTRINSIC
low complexity region 545 557 N/A INTRINSIC
C1Q 564 699 2.44e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102616
SMART Domains Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845

DomainStartEndE-ValueType
Pfam:Tektin 17 398 1.9e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102617
SMART Domains Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:ADP_ribosyl_GH 31 344 1.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151191
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Adprhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Adprhl2 APN 4 126318481 missense probably damaging 1.00
IGL03189:Adprhl2 APN 4 126317294 splice site probably benign
R0139:Adprhl2 UTSW 4 126318154 missense probably damaging 1.00
R0302:Adprhl2 UTSW 4 126317392 missense probably benign 0.00
R0879:Adprhl2 UTSW 4 126316617 missense probably benign
R2008:Adprhl2 UTSW 4 126317344 missense probably benign 0.05
R3789:Adprhl2 UTSW 4 126316751 missense probably damaging 0.96
R5038:Adprhl2 UTSW 4 126317309 missense possibly damaging 0.69
R5058:Adprhl2 UTSW 4 126318445 missense probably damaging 1.00
R5724:Adprhl2 UTSW 4 126318076 missense probably damaging 1.00
R6171:Adprhl2 UTSW 4 126317317 missense probably damaging 1.00
R6326:Adprhl2 UTSW 4 126316613 missense possibly damaging 0.58
R7825:Adprhl2 UTSW 4 126321696 unclassified probably benign
Z1176:Adprhl2 UTSW 4 126321567 missense probably damaging 1.00
Z1176:Adprhl2 UTSW 4 126321661 missense unknown
Posted On2015-04-16