Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Adprhl2'

293874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adprhl2

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylhydrolase like 2

Synonyms

Arh3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 126317908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000070132] [ENSMUST00000102616] [ENSMUST00000102617]

AlphaFold

Q8CG72

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

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	399	2.1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070132

SMART Domains

Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	398	1.9e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102617

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8552:Adprhl2	UTSW	4	126316575	makesense	probably null
R9008:Adprhl2	UTSW	4	126316839	missense	probably damaging	1.00
R9142:Adprhl2	UTSW	4	126321567	missense	probably damaging	1.00
R9585:Adprhl2	UTSW	4	126317993	missense	probably benign	0.13
R9698:Adprhl2	UTSW	4	126316721	missense	probably damaging	1.00
Z1176:Adprhl2	UTSW	4	126321567	missense	probably damaging	1.00
Z1176:Adprhl2	UTSW	4	126321661	missense	unknown

Posted On

2015-04-16