Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:Adprh'

654066

Institutional Source

Beutler Lab

Gene Symbol

Adprh

Ensembl Gene

ENSMUSG00000002844

Gene Name

ADP-ribosylarginine hydrolase

Synonyms

Arh1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38444030-38452703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38446087 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 231 (E231G)

Ref Sequence

ENSEMBL: ENSMUSP00000002923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002923]

Predicted Effect

probably benign
Transcript: ENSMUST00000002923
AA Change: E231G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: E231G

Domain	Start	End	E-Value	Type
Pfam:ADP_ribosyl_GH	11	331	1.1e-57	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to the effects of cholera toxin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	probably damaging	Het

Other mutations in Adprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Adprh	APN	16	38450216	missense	possibly damaging	0.65
IGL02012:Adprh	APN	16	38445852	missense	possibly damaging	0.92
IGL02182:Adprh	APN	16	38447476	missense	probably benign
IGL02862:Adprh	APN	16	38446034	missense	probably benign
IGL02884:Adprh	APN	16	38446034	missense	probably benign
IGL03065:Adprh	APN	16	38446034	missense	probably benign
R0829:Adprh	UTSW	16	38445788	missense	probably benign
R1164:Adprh	UTSW	16	38450340	missense	probably benign
R1542:Adprh	UTSW	16	38445924	missense	probably damaging	0.99
R4591:Adprh	UTSW	16	38445983	missense	probably benign
R4965:Adprh	UTSW	16	38445780	nonsense	probably null
R5271:Adprh	UTSW	16	38446054	nonsense	probably null
R5928:Adprh	UTSW	16	38447384	missense	probably benign
R6383:Adprh	UTSW	16	38447452	missense	probably damaging	1.00
R6469:Adprh	UTSW	16	38450309	missense	probably benign	0.00
R6526:Adprh	UTSW	16	38447276	missense	probably benign	0.00
R6978:Adprh	UTSW	16	38445809	missense	probably damaging	1.00
R8143:Adprh	UTSW	16	38450332	missense	probably benign	0.02
R8482:Adprh	UTSW	16	38447509	missense	probably damaging	1.00
R8846:Adprh	UTSW	16	38447413	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCACTGTCTCCACCGTGG -3'
(R):5'- AAAACTATATGGATGGCTTGTGGAG -3'

Sequencing Primer
(F):5'- CACCGTGGAAGAAGGCTCTG -3'
(R):5'- ATGGATGGCTTGTGGAGTTAATTTAG -3'

Posted On

2020-10-20