Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Adprhl1'

574424

Institutional Source

Beutler Lab

Gene Symbol

Adprhl1

Ensembl Gene

ENSMUSG00000031448

Gene Name

ADP-ribosylhydrolase like 1

Synonyms

D330008N11Rik, Arh2

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13271663-13304162 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13275118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 547 (S547C)

Ref Sequence

ENSEMBL: ENSMUSP00000145145 (fasta)

Gene Model

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

AlphaFold

Q8BGK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000204916
AA Change: S547C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: S547C

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: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Bbs2	T	C	8: 94,808,992 (GRCm39)	D311G	probably damaging	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Fgfr1	T	C	8: 26,045,566 (GRCm39)	V45A	probably benign	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,375,748 (GRCm39)	I100N	probably damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,358,927 (GRCm39)	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Upf2	A	G	2: 6,045,014 (GRCm39)	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	probably 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
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
R7877:Adprhl1	UTSW	8	13,275,316 (GRCm39)	nonsense	probably null
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'- ATTCTGGTGCAGCTGGTAGC -3'
(R):5'- TGGTAGGAGTTTTGTAAATGCCAC -3'

Sequencing Primer
(F):5'- TGCAGCTGGTAGCCATGG -3'
(R):5'- GGAGTTTTGTAAATGCCACCATCAAC -3'

Posted On

2019-09-13