Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Adprhl2'

219183

Institutional Source

Beutler Lab

Gene Symbol

Adprhl2

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylhydrolase like 2

Synonyms

Arh3

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2008 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126317344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 260 (D260V)

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
AA Change: D260V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: D260V

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,737,702	T156I	possibly damaging	Het
1700061G19Rik	A	G	17: 56,886,478	N608S	probably benign	Het
2510039O18Rik	T	A	4: 147,941,577	C185S	probably benign	Het
Actl6b	T	A	5: 137,569,330	S409T	probably damaging	Het
Adgrf2	T	C	17: 42,710,122	T604A	probably damaging	Het
Akap9	A	G	5: 3,960,131	E296G	possibly damaging	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,905,897	W236R	probably damaging	Het
Atp11b	A	G	3: 35,855,122	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,432,726	T551S	probably benign	Het
Atp7b	A	T	8: 22,027,980	C281S	probably damaging	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,734,976		probably null	Het
Capn9	T	G	8: 124,591,685	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 122,643,293	V147A	probably damaging	Het
Ccdc83	T	A	7: 90,244,141	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,476	R357L	possibly damaging	Het
Celf1	A	T	2: 91,010,408	N367I	probably damaging	Het
Cep350	T	C	1: 155,914,721	I1363V	probably benign	Het
Colec12	T	A	18: 9,874,813	D696E	probably benign	Het
Ctbp1	C	T	5: 33,250,986	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,525,392	I293T	probably damaging	Het
D430042O09Rik	C	G	7: 125,860,566	H1189D	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dctn1	C	T	6: 83,189,956	T263I	probably damaging	Het
Ddx49	A	T	8: 70,295,444	V317E	probably damaging	Het
Edil3	G	A	13: 88,944,953		probably null	Het
Egflam	A	T	15: 7,237,804	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,819,865		probably null	Het
Gigyf2	T	G	1: 87,374,113		probably null	Het
Gm5346	A	T	8: 43,627,037	V50D	probably benign	Het
Heatr4	A	G	12: 83,979,740	S248P	probably benign	Het
Hist1h1c	C	G	13: 23,739,409	S187R	probably benign	Het
Hoxd1	A	T	2: 74,764,180	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,092	L305Q	probably damaging	Het
Itch	T	A	2: 155,210,459	C660S	possibly damaging	Het
Ivd	A	T	2: 118,871,500	I138F	probably benign	Het
Lcn4	G	T	2: 26,671,216	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 120,012,665	Y192H	probably damaging	Het
Mn1	T	C	5: 111,418,857	L231P	probably damaging	Het
Morc1	A	G	16: 48,565,646	D544G	probably benign	Het
Mthfd1	C	A	12: 76,297,519	T331K	probably damaging	Het
Myo18b	T	A	5: 112,873,557	Y546F	probably benign	Het
Nod1	T	C	6: 54,939,325	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,232,973	V563A	probably damaging	Het
Olfr1253	A	T	2: 89,752,073	C252S	possibly damaging	Het
Olfr46	T	C	7: 140,610,585	Y140H	probably damaging	Het
Olfr497	T	C	7: 108,423,182	F204L	probably benign	Het
Olfr904	T	C	9: 38,464,241	S67P	probably damaging	Het
Olfr998	A	G	2: 85,591,422	N294S	probably damaging	Het
Orc3	T	A	4: 34,611,049		probably null	Het
Otog	T	C	7: 46,264,074	V777A	probably benign	Het
Pbxip1	G	T	3: 89,448,713	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,478,263	D92G	probably damaging	Het
Phkb	T	A	8: 86,056,467	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,152,621	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,199,459	V3287A	probably damaging	Het
Polq	T	A	16: 37,062,482	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,585,757	S195P	probably damaging	Het
Prdm2	T	C	4: 143,134,947	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,825,905	T268S	possibly damaging	Het
Scd2	A	T	19: 44,303,171	T350S	probably benign	Het
Scn7a	T	A	2: 66,687,747	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,979,029	L259Q	probably damaging	Het
Senp6	A	G	9: 80,126,398	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,304,303		probably null	Het
Slx4	T	C	16: 3,979,921	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,185	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,540,511	T12M	probably benign	Het
Synj2	G	T	17: 5,996,946	E20D	probably damaging	Het
Tchh	G	T	3: 93,445,974	R907L	unknown	Het
Thsd1	A	G	8: 22,259,231	E645G	probably benign	Het
Tmem176b	A	T	6: 48,835,449	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,591,406		probably null	Het
Trim44	G	A	2: 102,400,377		probably benign	Het
Triml1	T	A	8: 43,130,605	R320W	probably damaging	Het
Trmt6	A	T	2: 132,806,909	C401*	probably null	Het
Trpv5	T	C	6: 41,659,728		probably null	Het
V1rd19	T	A	7: 24,003,301	L64*	probably null	Het
Vmn1r216	A	T	13: 23,099,491	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,860,500	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,801,713	V269A	probably benign	Het
Vps13d	A	T	4: 145,155,243	V1254D	probably benign	Het
Xpr1	T	C	1: 155,281,029		probably null	Het
Zan	T	A	5: 137,452,450	T1622S	unknown	Het
Zfp112	T	C	7: 24,126,751	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,513,125	P308L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCCTTTTCTGGGGATAC -3'
(R):5'- TCAAAAGATTCCTGGCTCTCAGAG -3'

Sequencing Primer
(F):5'- ATACTGATCGTCAAGGCTGC -3'
(R):5'- ACTGTTAAGGCACATGCGC -3'

Posted On

2014-08-25