Mutagenetix > Incidental Mutations

Incidental Mutation 'R8552:Adprhl2'

659896

Institutional Source

Beutler Lab

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 #

R8552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 126316575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 371 (*371Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099677 (fasta)

Gene Model

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

AlphaFold

Q8CG72

PDB Structure

Crystal Structure of mouse ADP-ribosylhydrolase 3 (mARH3) [X-RAY DIFFRACTION]

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 null
Transcript: ENSMUST00000102617
AA Change: *371Q

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: *371Q

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:ADP_ribosyl_GH	31	344	1.5e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,669,225	H242R	possibly damaging	Het
Adam1b	G	T	5: 121,501,441	R514S	probably benign	Het
Arid4a	T	C	12: 71,060,075	L307P	probably benign	Het
Armc12	C	T	17: 28,538,701	A269V	probably benign	Het
Asb1	T	A	1: 91,552,356	V259E	probably damaging	Het
Atm	T	C	9: 53,524,497	Y171C	probably damaging	Het
Atp8a2	A	T	14: 59,773,982	F959L	probably benign	Het
B4galt3	G	T	1: 171,274,347	E34D	possibly damaging	Het
Cacna1i	A	G	15: 80,320,397	N90S	possibly damaging	Het
Cdc42ep2	T	A	19: 5,918,032	*215L	probably null	Het
Cep162	C	T	9: 87,244,308	E184K	probably benign	Het
Cnga3	C	T	1: 37,244,979	P121L	probably benign	Het
Cpt1b	G	A	15: 89,422,321	R285C	probably damaging	Het
Defb18	T	C	1: 18,236,567	Y55C	probably damaging	Het
Depdc1b	C	T	13: 108,357,425	P116S	probably damaging	Het
Dhx16	C	T	17: 35,881,291	A74V	possibly damaging	Het
Dnajc21	A	T	15: 10,463,919	Y53*	probably null	Het
Dse	T	C	10: 34,152,320	R925G	possibly damaging	Het
Dsp	C	T	13: 38,185,141	L738F	probably damaging	Het
Erv3	T	C	2: 131,856,341	K33E	possibly damaging	Het
Gas2l2	T	A	11: 83,422,081	T802S	probably benign	Het
Gdf9	T	C	11: 53,433,551	L49S	possibly damaging	Het
Gigyf1	G	T	5: 137,523,139		probably benign	Het
Gm4792	T	A	10: 94,295,199	I83L	unknown	Het
Ighv9-3	A	G	12: 114,140,729	L105P	probably damaging	Het
Krtap5-1	C	A	7: 142,296,423	W189L	probably null	Het
Krtap5-3	T	A	7: 142,202,352		probably benign	Het
Lrp1b	T	A	2: 41,408,981	E108D	probably benign	Het
Lrrc66	G	A	5: 73,610,885	P238S	probably benign	Het
Ms4a4c	C	T	19: 11,414,832	Q6*	probably null	Het
Olfr1447	A	G	19: 12,901,732	L16P	probably damaging	Het
Olfr214	G	T	6: 116,557,328	R301L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pinx1	A	G	14: 63,919,523	R300G	probably benign	Het
Pkd1	T	A	17: 24,591,469	H92Q	probably damaging	Het
Rad54l2	T	A	9: 106,693,578	Q1181L	possibly damaging	Het
Rbl1	A	T	2: 157,196,254	V131E	probably damaging	Het
Rbp3	A	G	14: 33,955,664	E523G	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Slc22a20	C	A	19: 5,985,670	C130F	probably damaging	Het
Smcr8	T	C	11: 60,780,153	L709S	probably damaging	Het
Spef2	A	G	15: 9,600,679		probably benign	Het
Teddm1b	T	A	1: 153,874,448	M1K	probably null	Het
Tes	A	G	6: 17,097,328	Y60C	probably damaging	Het
Tmem104	T	C	11: 115,197,318	L43P	probably damaging	Het
Tnfaip3	T	C	10: 19,004,465	E618G	probably damaging	Het
Tnfaip3	T	C	10: 19,004,666	D551G	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Trim30b	T	A	7: 104,366,029	T51S	probably benign	Het
Trmt44	G	T	5: 35,565,400	H441Q	probably benign	Het
Tshr	C	A	12: 91,537,285	D332E	probably benign	Het
Usp10	C	T	8: 119,956,628	T746M	possibly damaging	Het
Vmn1r8	A	T	6: 57,036,153	D63V	possibly damaging	Het
Vps13a	A	C	19: 16,754,320	L143V	probably damaging	Het
Wnt3a	T	A	11: 59,275,217	H79L	probably damaging	Het
Zbtb7a	C	T	10: 81,144,307	R112W	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCATACAGCCCTGCAGCAAG -3'
(R):5'- AGAGGACTCTCATCTACTCCATCTC -3'

Sequencing Primer
(F):5'- GAGCTGCAGCCCCAAGAAG -3'
(R):5'- TCCATCTCACTTGGTGGGGAC -3'

Posted On

2021-01-18