Mutagenetix > Incidental Mutations

Incidental Mutation 'R9142:Adprhl2'

694378

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 #

R9142 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126321567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 35 (G35V)

Ref Sequence

ENSEMBL: ENSMUSP00000099677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000102616] [ENSMUST00000102617] [ENSMUST00000131113] [ENSMUST00000141990]

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: 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: G35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: G35V

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

probably benign
Transcript: ENSMUST00000131113

SMART Domains

Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	126	9.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141990

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,297,893	D929E	probably damaging	Het
Apob	A	C	12: 8,012,705	D3729A	possibly damaging	Het
App	G	A	16: 85,103,239	H108Y	probably damaging	Het
Arap3	G	A	18: 37,979,881	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,951,778	S550P	unknown	Het
Armc2	T	G	10: 41,975,408	E259D	probably benign	Het
Atp13a2	A	G	4: 141,002,053	D566G	probably damaging	Het
Bnc2	A	G	4: 84,555,874	C12R	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,765,401	R123*	probably null	Het
Cdc37l1	T	A	19: 29,012,002	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,984,235	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,986,554		probably null	Het
Col6a3	A	T	1: 90,778,844	D2789E	unknown	Het
Dazl	A	G	17: 50,283,150	V271A	probably benign	Het
Dennd4c	A	T	4: 86,837,400	N1610Y	probably benign	Het
Dusp13	T	A	14: 21,742,688	K56N	probably benign	Het
Erbb2	T	A	11: 98,422,058	I149N	probably damaging	Het
Erbb4	A	T	1: 68,349,393	C217S	probably damaging	Het
Fbxw21	A	G	9: 109,156,345	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Foxm1	T	A	6: 128,367,335	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,840,060	N381S	possibly damaging	Het
Gja3	T	C	14: 57,036,591	E108G	probably benign	Het
Gm40460	C	A	7: 142,240,762	G106V	unknown	Het
Gm9736	A	G	10: 77,751,015	C114R	unknown	Het
Gpbp1	A	T	13: 111,426,499	D492E	unknown	Het
Gper1	T	C	5: 139,426,557	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,536,002	R56Q	probably benign	Het
Hist1h2af	T	C	13: 23,533,981	L24P	probably damaging	Het
Ide	T	C	19: 37,330,499	N38S		Het
Kat6a	T	A	8: 22,940,056	M1809K	unknown	Het
Kif7	A	T	7: 79,706,837	M702K	probably benign	Het
Lrrtm4	T	A	6: 80,022,443	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,544,716	P31L	probably damaging	Het
Nf1	T	A	11: 79,471,489	S1497R	probably damaging	Het
Nf1	T	A	11: 79,475,862	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,151,259	T47K	probably benign	Het
Olfr1135	C	T	2: 87,671,969	V133I	probably benign	Het
Olfr1415	T	G	1: 92,491,689	E22A	probably benign	Het
Olfr802	T	C	10: 129,682,416	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,494,804	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,524,496	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,780,768		probably benign	Het
Prss42	G	T	9: 110,799,160	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,137,095	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,188,214	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,208,713	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,170,394	Y17C	probably damaging	Het
Rrnad1	A	G	3: 87,923,888	I444T	probably benign	Het
Sec23ip	T	A	7: 128,761,502	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,413,451	T368A	probably damaging	Het
Sez6l	C	T	5: 112,461,217	A589T	probably benign	Het
Spag5	T	A	11: 78,301,997	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,335,513	S494L	unknown	Het
Top3b	T	C	16: 16,883,435	Y204H	probably damaging	Het
Trim43b	C	T	9: 89,091,399	V94M	possibly damaging	Het
Trps1	T	G	15: 50,661,262	I1091L	probably damaging	Het
Ttk	G	A	9: 83,843,688	R221Q	probably damaging	Het
Ttn	A	C	2: 76,719,122	M31737R	probably damaging	Het
Uso1	T	A	5: 92,187,266	L495*	probably null	Het
Usp19	A	G	9: 108,495,085	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,467,522	E274G	probably damaging	Het
Zfp106	T	A	2: 120,520,454	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,009,654	H406L	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
R8552:Adprhl2	UTSW	4	126316575	makesense	probably null
R9008:Adprhl2	UTSW	4	126316839	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'- TCATGGCTGGAGACCTACAACC -3'
(R):5'- TAGGACGTAGGCTGAGACTC -3'

Sequencing Primer
(F):5'- GCTGGAGCAAACCGATTCGATC -3'
(R):5'- TGAGACTCCGGGCCACAAG -3'

Posted On

2022-01-20