Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Adprhl1'

608507

Institutional Source

Beutler Lab

Gene Symbol

Adprhl1

Ensembl Gene

ENSMUSG00000031448

Gene Name

ADP-ribosylhydrolase like 1

Synonyms

D330008N11Rik, Arh2

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13271663-13304162 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 13275316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 481 (R481*)

Ref Sequence

ENSEMBL: ENSMUSP00000145145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000204916]

AlphaFold

Q8BGK2

Predicted Effect

probably null
Transcript: ENSMUST00000204916
AA Change: R481*

SMART Domains

Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: R481*

Domain	Start	End	E-Value	Type
Pfam:ADP_ribosyl_GH	6	327	4.2e-49	PFAM
low complexity region	509	527	N/A	INTRINSIC
low complexity region	955	969	N/A	INTRINSIC
internal_repeat_1	1047	1150	1.82e-5	PROSPERO
internal_repeat_1	1157	1274	1.82e-5	PROSPERO
low complexity region	1275	1290	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,665 (GRCm39)	C388Y	probably damaging	Het
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Afap1l1	T	A	18: 61,879,853 (GRCm39)	D339V	probably damaging	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyp51	T	A	5: 4,152,929 (GRCm39)	K91M	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Frem1	A	G	4: 82,932,049 (GRCm39)		probably null	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,792,787 (GRCm39)	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	possibly damaging	Het

Other mutations in Adprhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Adprhl1	APN	8	13,296,170 (GRCm39)	splice site	probably benign
BB003:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB004:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB005:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB006:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB013:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB014:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB015:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
BB016:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R0244:Adprhl1	UTSW	8	13,292,391 (GRCm39)	splice site	probably benign
R0636:Adprhl1	UTSW	8	13,298,702 (GRCm39)	missense	probably damaging	1.00
R1295:Adprhl1	UTSW	8	13,298,624 (GRCm39)	missense	probably damaging	1.00
R2111:Adprhl1	UTSW	8	13,298,694 (GRCm39)	missense	probably damaging	1.00
R2112:Adprhl1	UTSW	8	13,298,694 (GRCm39)	missense	probably damaging	1.00
R2184:Adprhl1	UTSW	8	13,292,559 (GRCm39)	missense	probably benign	0.00
R4411:Adprhl1	UTSW	8	13,296,114 (GRCm39)	missense	probably benign	0.16
R4412:Adprhl1	UTSW	8	13,296,114 (GRCm39)	missense	probably benign	0.16
R4413:Adprhl1	UTSW	8	13,296,114 (GRCm39)	missense	probably benign	0.16
R4615:Adprhl1	UTSW	8	13,292,250 (GRCm39)	critical splice donor site	probably null
R4618:Adprhl1	UTSW	8	13,292,250 (GRCm39)	critical splice donor site	probably null
R5016:Adprhl1	UTSW	8	13,274,889 (GRCm39)	missense	possibly damaging	0.88
R5058:Adprhl1	UTSW	8	13,292,625 (GRCm39)	missense	probably damaging	1.00
R5060:Adprhl1	UTSW	8	13,298,621 (GRCm39)	missense	possibly damaging	0.63
R5209:Adprhl1	UTSW	8	13,292,563 (GRCm39)	nonsense	probably null
R6103:Adprhl1	UTSW	8	13,272,055 (GRCm39)	missense	possibly damaging	0.91
R6158:Adprhl1	UTSW	8	13,274,977 (GRCm39)	missense	possibly damaging	0.93
R6221:Adprhl1	UTSW	8	13,275,634 (GRCm39)	missense	probably benign	0.01
R6971:Adprhl1	UTSW	8	13,273,476 (GRCm39)	missense	probably benign
R7087:Adprhl1	UTSW	8	13,271,856 (GRCm39)	missense	probably damaging	0.99
R7362:Adprhl1	UTSW	8	13,295,534 (GRCm39)	missense	probably damaging	1.00
R7404:Adprhl1	UTSW	8	13,275,118 (GRCm39)	missense	probably damaging	0.99
R7422:Adprhl1	UTSW	8	13,272,873 (GRCm39)	missense	probably benign	0.28
R7439:Adprhl1	UTSW	8	13,273,069 (GRCm39)	missense	probably benign	0.01
R7441:Adprhl1	UTSW	8	13,273,069 (GRCm39)	missense	probably benign	0.01
R7772:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7773:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7774:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7776:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7876:Adprhl1	UTSW	8	13,273,509 (GRCm39)	missense	probably benign	0.00
R7926:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7927:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7928:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7929:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7944:Adprhl1	UTSW	8	13,271,929 (GRCm39)	missense	probably damaging	0.99
R7945:Adprhl1	UTSW	8	13,271,929 (GRCm39)	missense	probably damaging	0.99
R7946:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7947:Adprhl1	UTSW	8	13,298,682 (GRCm39)	missense	probably damaging	1.00
R7949:Adprhl1	UTSW	8	13,274,225 (GRCm39)	missense	possibly damaging	0.93
R8155:Adprhl1	UTSW	8	13,271,764 (GRCm39)	missense	probably damaging	0.99
R8182:Adprhl1	UTSW	8	13,272,774 (GRCm39)	missense	probably benign	0.07
R8753:Adprhl1	UTSW	8	13,272,118 (GRCm39)	missense	possibly damaging	0.91
R8799:Adprhl1	UTSW	8	13,272,474 (GRCm39)	missense	probably benign	0.00
R8893:Adprhl1	UTSW	8	13,274,511 (GRCm39)	missense	probably benign	0.11
R9022:Adprhl1	UTSW	8	13,274,352 (GRCm39)	missense	probably benign	0.00
R9161:Adprhl1	UTSW	8	13,272,270 (GRCm39)	missense	probably damaging	0.99
R9227:Adprhl1	UTSW	8	13,271,974 (GRCm39)	missense	probably benign	0.27
R9228:Adprhl1	UTSW	8	13,275,279 (GRCm39)	missense	probably benign
R9283:Adprhl1	UTSW	8	13,273,540 (GRCm39)	missense	probably benign
R9426:Adprhl1	UTSW	8	13,274,034 (GRCm39)	missense	possibly damaging	0.93
R9648:Adprhl1	UTSW	8	13,273,245 (GRCm39)	missense	probably benign	0.40
Z1176:Adprhl1	UTSW	8	13,275,613 (GRCm39)	missense	probably benign	0.01
Z1177:Adprhl1	UTSW	8	13,295,476 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GAATCTTTCCCTCAGCTTGGAGAG -3'
(R):5'- CACACGGTTCCAGCTTCTAC -3'

Sequencing Primer
(F):5'- ATGGAGCTCTGGCCCACAATTC -3'
(R):5'- TCTACAGGCTAAGTTCATGGGCAC -3'

Posted On

2019-12-20