Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Adprs'

65365

Institutional Source

Beutler Lab

Gene Symbol

Adprs

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylserine hydrolase

Synonyms

Arh3, Adprhl2

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0302 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

126210144-126215496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126211185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 244 (E244G)

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: E244G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: E244G

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cr1l	G	A	1: 194,800,101 (GRCm39)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,598,552 (GRCm39)	R396L	probably benign	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pbx3	A	T	2: 34,114,572 (GRCm39)	S46T	probably benign	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc2a7	C	T	4: 150,233,978 (GRCm39)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,353,438 (GRCm39)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		probably benign	Het

Other mutations in Adprs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Adprs	APN	4	126,212,274 (GRCm39)	missense	probably damaging	1.00
IGL02391:Adprs	APN	4	126,211,701 (GRCm39)	splice site	probably benign
IGL03189:Adprs	APN	4	126,211,087 (GRCm39)	splice site	probably benign
R0139:Adprs	UTSW	4	126,211,947 (GRCm39)	missense	probably damaging	1.00
R0879:Adprs	UTSW	4	126,210,410 (GRCm39)	missense	probably benign
R2008:Adprs	UTSW	4	126,211,137 (GRCm39)	missense	probably benign	0.05
R3789:Adprs	UTSW	4	126,210,544 (GRCm39)	missense	probably damaging	0.96
R5038:Adprs	UTSW	4	126,211,102 (GRCm39)	missense	possibly damaging	0.69
R5058:Adprs	UTSW	4	126,212,238 (GRCm39)	missense	probably damaging	1.00
R5724:Adprs	UTSW	4	126,211,869 (GRCm39)	missense	probably damaging	1.00
R6171:Adprs	UTSW	4	126,211,110 (GRCm39)	missense	probably damaging	1.00
R6326:Adprs	UTSW	4	126,210,406 (GRCm39)	missense	possibly damaging	0.58
R7825:Adprs	UTSW	4	126,215,489 (GRCm39)	unclassified	probably benign
R8552:Adprs	UTSW	4	126,210,368 (GRCm39)	makesense	probably null
R9008:Adprs	UTSW	4	126,210,632 (GRCm39)	missense	probably damaging	1.00
R9142:Adprs	UTSW	4	126,215,360 (GRCm39)	missense	probably damaging	1.00
R9585:Adprs	UTSW	4	126,211,786 (GRCm39)	missense	probably benign	0.13
R9698:Adprs	UTSW	4	126,210,514 (GRCm39)	missense	probably damaging	1.00
Z1176:Adprs	UTSW	4	126,215,454 (GRCm39)	missense	unknown
Z1176:Adprs	UTSW	4	126,215,360 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTACAAAGCCCAGCTAGGGAC -3'
(R):5'- GGTGGAATTGCCACAAAGCCAAAC -3'

Sequencing Primer
(F):5'- CAGCTAGGGACCCTACAAAGAG -3'
(R):5'- TTAGAAGAGGCCCCTTTGC -3'

Posted On

2013-08-08