Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Adprhl2'

510397

Institutional Source

Beutler Lab

Gene Symbol

Adprhl2

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylhydrolase like 2

Synonyms

Arh3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126316047-126321703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126316613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 358 (L358Q)

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

possibly damaging
Transcript: ENSMUST00000102617
AA Change: L358Q

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: L358Q

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	G	9: 50,764,757	N87T	probably damaging	Het
2810474O19Rik	T	A	6: 149,328,995	Y1180N	probably damaging	Het
Adamts17	A	T	7: 67,120,888	Y915F	probably benign	Het
Adap2	T	A	11: 80,155,022	F43I	probably damaging	Het
AI314180	T	A	4: 58,827,068	T1022S	probably benign	Het
Akap9	A	C	5: 3,962,061	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,245,375	S389P	probably benign	Het
Atg2b	A	T	12: 105,661,092	C545*	probably null	Het
C2cd3	A	G	7: 100,416,428	E807G	probably benign	Het
Ccdc110	A	G	8: 45,942,041	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,235,454	S1711C	probably damaging	Het
Cebpzos	T	G	17: 78,919,057	D39E	probably damaging	Het
Cenpe	A	G	3: 135,239,778	N1018D	probably benign	Het
Clspn	C	A	4: 126,565,739	H141Q	probably damaging	Het
Cluh	C	T	11: 74,666,242	A1010V	probably benign	Het
Col27a1	G	T	4: 63,324,441		probably benign	Het
Cpt2	T	C	4: 107,914,316	M61V	probably benign	Het
Ddr2	T	A	1: 169,987,140	H578L	probably damaging	Het
Dnah14	T	A	1: 181,783,556	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,680,925	T264A	possibly damaging	Het
Eml6	T	C	11: 29,819,066	N693S	probably damaging	Het
Ephx4	A	G	5: 107,406,111	E9G	probably damaging	Het
Eps15l1	G	A	8: 72,341,434	Q747*	probably null	Het
Flrt1	C	T	19: 7,096,609	S191N	probably damaging	Het
Gm5114	C	T	7: 39,408,155	R680H	probably benign	Het
Gm5431	T	C	11: 48,889,345	H250R	probably damaging	Het
Gm7233	T	C	14: 43,182,885	C198R	possibly damaging	Het
Herc2	C	G	7: 56,222,934	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,543,005		probably benign	Het
Hoxb7	C	A	11: 96,287,083	A119E	probably benign	Het
Ifi207	A	T	1: 173,729,966	M402K	probably benign	Het
Ints14	T	C	9: 64,964,437	V19A	probably benign	Het
Itgae	T	A	11: 73,131,693	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,076,326	S145G	probably damaging	Het
Klhdc4	A	G	8: 121,805,054	W187R	probably damaging	Het
Krt1	A	T	15: 101,850,249	I160N	probably damaging	Het
Krt12	T	C	11: 99,416,919	T448A	probably benign	Het
Lcmt2	G	A	2: 121,139,457	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651	S221N	probably damaging	Het
Med17	T	C	9: 15,279,558	D79G	probably benign	Het
Mlf1	A	T	3: 67,399,727	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,994,895	F153I	probably damaging	Het
Msto1	A	C	3: 88,912,098	V149G	probably damaging	Het
Mybl1	T	C	1: 9,678,507		probably null	Het
Myoc	A	G	1: 162,649,011	Y428C	probably damaging	Het
Nin	A	G	12: 70,045,181	S785P	possibly damaging	Het
Oit3	A	T	10: 59,428,239	F358I	probably damaging	Het
Olfr1095	C	T	2: 86,850,994	V235I	probably benign	Het
Olfr794	A	G	10: 129,570,702	T16A	possibly damaging	Het
Paip1	A	G	13: 119,430,217	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,722,456	S635P	probably benign	Het
Pcsk1	A	G	13: 75,132,179	N708D	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prag1	A	T	8: 36,102,706	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,543,545	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,747,146	V568D	probably damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Robo3	T	A	9: 37,427,027	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,266,002	V420A	possibly damaging	Het
Sall1	A	T	8: 89,030,268	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,372,468	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,612,410	Y362*	probably null	Het
Slc5a9	T	C	4: 111,880,253	E603G	probably benign	Het
Slc6a17	A	T	3: 107,500,406	I83N	probably damaging	Het
Snx29	G	T	16: 11,403,566	M285I	probably benign	Het
Spata2	T	C	2: 167,484,174	T242A	possibly damaging	Het
Stard13	A	G	5: 151,046,919	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045	V2088A	possibly damaging	Het
Tdp2	A	G	13: 24,840,557	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 145,269,224	I422L	probably damaging	Het
Tpk1	T	A	6: 43,346,802	T189S	possibly damaging	Het
Trhde	A	T	10: 114,567,224	M498K	probably damaging	Het
Trim35	T	A	14: 66,303,204	H168Q	possibly damaging	Het
Tubb5	T	C	17: 35,836,455		probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,801,823	G306R	probably benign	Het
Xkr4	C	T	1: 3,671,038	R104H	possibly damaging	Het
Zcchc11	C	T	4: 108,478,980	T6I	probably benign	Het
Zfp398	T	C	6: 47,866,421	I337T	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
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
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'- ACAGGCTGTCTCAAGATTCCAG -3'
(R):5'- TTTGAATCTGTGCCCACCGC -3'

Sequencing Primer
(F):5'- GATTCCAGCCCCAAGGGTAC -3'
(R):5'- TTCCTGCGCTGCATGGAG -3'

Posted On

2018-04-02