Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01591:Adprhl2'

91598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adprhl2

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylhydrolase like 2

Synonyms

Arh3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01591

Quality Score

Status

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126318481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 82 (T82A)

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 damaging
Transcript: ENSMUST00000102617
AA Change: T82A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: T82A

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	T	11: 84,243,320	G420W	probably damaging	Het
Adamts17	G	A	7: 67,004,396	R458H	probably damaging	Het
Ccdc158	T	A	5: 92,662,041	I203L	probably benign	Het
Commd10	C	A	18: 46,963,668	S47R	probably benign	Het
Crb1	T	C	1: 139,237,339	T1016A	probably damaging	Het
Crhbp	T	A	13: 95,443,787	I95F	probably damaging	Het
Cyp3a11	A	T	5: 145,875,481		probably benign	Het
Dsel	A	G	1: 111,859,695	Y1037H	probably benign	Het
Epha1	T	C	6: 42,360,551	D898G	probably damaging	Het
Esr2	T	A	12: 76,121,724		probably benign	Het
Exosc10	T	A	4: 148,562,887		probably benign	Het
Fat4	A	T	3: 39,010,375	R4827*	probably null	Het
Gm11596	A	T	11: 99,792,798	C165*	probably null	Het
Heatr5b	A	G	17: 78,808,472	S852P	probably benign	Het
Mcm3ap	C	T	10: 76,470,805	P251S	probably benign	Het
Nmur2	A	G	11: 56,026,999	V388A	probably benign	Het
Parp14	T	C	16: 35,858,507	T364A	possibly damaging	Het
Rarb	T	A	14: 16,434,207	I370F	possibly damaging	Het
Rnf32	T	A	5: 29,224,274	I283N	probably damaging	Het
Smg8	A	G	11: 87,085,153	V77A	probably damaging	Het
Tnn	T	C	1: 160,125,574	E632G	probably damaging	Het
Trip11	A	T	12: 101,883,345	S1487T	probably damaging	Het
Vmn2r58	T	C	7: 41,865,329	K72R	probably benign	Het
Vmn2r92	A	G	17: 18,185,161	I856V	unknown	Het

Other mutations in Adprhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Adprhl2	APN	4	126317908	splice site	probably benign
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
Z1176:Adprhl2	UTSW	4	126321567	missense	probably damaging	1.00
Z1176:Adprhl2	UTSW	4	126321661	missense	unknown

Posted On

2013-12-09