Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Adprh'

400359

Institutional Source

Beutler Lab

Gene Symbol

Adprh

Ensembl Gene

ENSMUSG00000002844

Gene Name

ADP-ribosylarginine hydrolase

Synonyms

Arh1

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38444030-38452703 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 38446054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 242 (L242*)

Ref Sequence

ENSEMBL: ENSMUSP00000002923 (fasta)

Gene Model

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

AlphaFold

P54923

Predicted Effect

probably null
Transcript: ENSMUST00000002923
AA Change: L242*

SMART Domains

Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: L242*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232145

Meta Mutation Damage Score

0.9706

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,847 (GRCm38)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,895,147 (GRCm38)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,615,530 (GRCm38)		noncoding transcript	Het
Anapc1	G	A	2: 128,685,985 (GRCm38)	Q18*	probably null	Het
Bfar	T	C	16: 13,692,397 (GRCm38)		probably benign	Het
Bmp1	T	C	14: 70,508,128 (GRCm38)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,623,629 (GRCm38)		probably benign	Het
Clock	A	G	5: 76,241,954 (GRCm38)	I349T	probably damaging	Het
Cox11	A	G	11: 90,643,732 (GRCm38)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,702,838 (GRCm38)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,187,688 (GRCm38)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,481,397 (GRCm38)	A172S	probably damaging	Het
F2	T	C	2: 91,635,121 (GRCm38)		probably benign	Het
Galnt2l	A	G	8: 122,271,133 (GRCm38)		probably benign	Het
Gcc2	T	C	10: 58,269,695 (GRCm38)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,724,711 (GRCm38)		noncoding transcript	Het
Gm20671	T	C	5: 32,819,959 (GRCm38)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 94,877,155 (GRCm38)	Y410*	probably null	Het
Gm27013	T	C	6: 130,676,915 (GRCm38)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,423,696 (GRCm38)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,734,148 (GRCm38)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,788,301 (GRCm38)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,341,706 (GRCm38)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,131,957 (GRCm38)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,907,382 (GRCm38)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,722,729 (GRCm38)	H66R	probably benign	Het
Ncor1	A	G	11: 62,340,545 (GRCm38)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,703,666 (GRCm38)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,705,132 (GRCm38)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,714,217 (GRCm38)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,282,953 (GRCm38)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,413,169 (GRCm38)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,491,596 (GRCm38)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,723,353 (GRCm38)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,897,567 (GRCm38)	Y61*	probably null	Het
Polk	T	C	13: 96,483,539 (GRCm38)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,590,698 (GRCm38)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,249,193 (GRCm38)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm38)	M368I	probably benign	Het
Shroom3	T	C	5: 92,962,248 (GRCm38)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,463,748 (GRCm38)	L226P	probably damaging	Het
St7l	A	T	3: 104,868,060 (GRCm38)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm38)	N392I	probably benign	Het
Syngr1	T	A	15: 80,098,039 (GRCm38)	M9K	probably benign	Het
Taar2	T	C	10: 23,941,032 (GRCm38)	S157P	probably damaging	Het
Tagap1	G	T	17: 6,956,096 (GRCm38)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,373,767 (GRCm38)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,491,552 (GRCm38)		probably benign	Het
Tnfaip2	A	G	12: 111,448,460 (GRCm38)		probably benign	Het
Ttn	C	T	2: 76,706,517 (GRCm38)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,120,238 (GRCm38)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,369,682 (GRCm38)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,334,397 (GRCm38)		noncoding transcript	Het
Zap70	T	A	1: 36,781,365 (GRCm38)	V547D	probably damaging	Het
Zfp146	G	T	7: 30,162,475 (GRCm38)	N47K	probably benign	Het
Znrf1	T	G	8: 111,609,344 (GRCm38)	M159R	probably benign	Het

Other mutations in Adprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Adprh	APN	16	38,450,216 (GRCm38)	missense	possibly damaging	0.65
IGL02012:Adprh	APN	16	38,445,852 (GRCm38)	missense	possibly damaging	0.92
IGL02182:Adprh	APN	16	38,447,476 (GRCm38)	missense	probably benign
IGL02862:Adprh	APN	16	38,446,034 (GRCm38)	missense	probably benign
IGL02884:Adprh	APN	16	38,446,034 (GRCm38)	missense	probably benign
IGL03065:Adprh	APN	16	38,446,034 (GRCm38)	missense	probably benign
R0829:Adprh	UTSW	16	38,445,788 (GRCm38)	missense	probably benign
R1164:Adprh	UTSW	16	38,450,340 (GRCm38)	missense	probably benign
R1542:Adprh	UTSW	16	38,445,924 (GRCm38)	missense	probably damaging	0.99
R4591:Adprh	UTSW	16	38,445,983 (GRCm38)	missense	probably benign
R4965:Adprh	UTSW	16	38,445,780 (GRCm38)	nonsense	probably null
R5928:Adprh	UTSW	16	38,447,384 (GRCm38)	missense	probably benign
R6383:Adprh	UTSW	16	38,447,452 (GRCm38)	missense	probably damaging	1.00
R6469:Adprh	UTSW	16	38,450,309 (GRCm38)	missense	probably benign	0.00
R6526:Adprh	UTSW	16	38,447,276 (GRCm38)	missense	probably benign	0.00
R6978:Adprh	UTSW	16	38,445,809 (GRCm38)	missense	probably damaging	1.00
R8143:Adprh	UTSW	16	38,450,332 (GRCm38)	missense	probably benign	0.02
R8437:Adprh	UTSW	16	38,446,087 (GRCm38)	missense	probably benign	0.03
R8482:Adprh	UTSW	16	38,447,509 (GRCm38)	missense	probably damaging	1.00
R8846:Adprh	UTSW	16	38,447,413 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGGAATCACTGTCTCCAC -3'
(R):5'- ATTTATGACACTAGTGTGAGGAGCTG -3'

Sequencing Primer
(F):5'- GAATCACTGTCTCCACCGTGG -3'
(R):5'- GGAGCTGAAGTCATTCTGGAC -3'

Posted On

2016-07-06