Mutagenetix > Incidental Mutations

Incidental Mutation 'R2152:Art5'

234390

Institutional Source

Beutler Lab

Gene Symbol

Art5

Ensembl Gene

ENSMUSG00000070424

Gene Name

ADP-ribosyltransferase 5

Synonyms

Yac-2

MMRRC Submission

040155-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102096879-102109489 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102098200 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 124 (L124P)

Ref Sequence

ENSEMBL: ENSMUSP00000102550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084843] [ENSMUST00000094128] [ENSMUST00000106934] [ENSMUST00000106935] [ENSMUST00000106937] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104] [ENSMUST00000210211] [ENSMUST00000209809]

Predicted Effect

probably benign
Transcript: ENSMUST00000033300

SMART Domains

Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ART	39	269	2e-99	PFAM
low complexity region	288	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084843

SMART Domains

Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	150	1.4e-54	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
low complexity region	403	415	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
ANK	439	469	1.58e3	SMART
low complexity region	484	496	N/A	INTRINSIC
ANK	522	551	1.74e0	SMART
Pfam:TRP_2	557	619	1e-24	PFAM
Pfam:Ion_trans	716	1024	1.7e-24	PFAM
Pfam:PKD_channel	774	1019	2.4e-12	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1122	1162	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094128
AA Change: L124P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: L124P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	3.6e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106934

SMART Domains

Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	117	3.7e-29	PFAM
Pfam:ART	114	157	6.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106935

SMART Domains

Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	146	2.1e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106937
AA Change: L124P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: L124P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123372

SMART Domains

Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000124189

SMART Domains

Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
low complexity region	42	54	N/A	INTRINSIC
ANK	65	95	1.58e3	SMART
low complexity region	110	122	N/A	INTRINSIC
ANK	148	177	1.74e0	SMART
Pfam:TRP_2	183	245	9.1e-29	PFAM
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:PKD_channel	398	645	1.4e-12	PFAM
Pfam:Ion_trans	422	638	1e-31	PFAM
low complexity region	696	707	N/A	INTRINSIC
low complexity region	719	730	N/A	INTRINSIC
coiled coil region	748	788	N/A	INTRINSIC
low complexity region	846	862	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139104

SMART Domains

Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211553

Predicted Effect

probably benign
Transcript: ENSMUST00000209809

Predicted Effect

probably benign
Transcript: ENSMUST00000155078

SMART Domains

Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	4.4e-22	PFAM

Meta Mutation Damage Score

0.2125

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,934	D298V	probably damaging	Het
Ackr3	A	T	1: 90,213,843	Y8F	probably benign	Het
Acy1	T	C	9: 106,435,617	E175G	probably damaging	Het
Add2	T	C	6: 86,098,598	L243P	probably damaging	Het
Adsl	A	G	15: 80,967,662	D407G	probably damaging	Het
Afg3l1	T	G	8: 123,494,836	I478S	probably damaging	Het
Arfrp1	T	C	2: 181,359,694	T108A	probably benign	Het
Asap2	A	T	12: 21,112,083	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102	N901S	probably benign	Het
Bbs12	G	T	3: 37,321,160	E586*	probably null	Het
Bicd2	G	T	13: 49,379,576	C546F	probably damaging	Het
Bid	A	T	6: 120,900,254	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,260,135	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615	T424K	probably benign	Het
Cd46	A	G	1: 195,062,413	I339T	probably benign	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cntn3	A	G	6: 102,206,537	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,409,625	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,792,706		probably null	Het
Dclk1	A	G	3: 55,247,212	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,891,487		probably null	Het
Dhx38	T	C	8: 109,560,674	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dnah3	C	T	7: 119,952,013	V3028I	probably benign	Het
Dnah6	T	C	6: 73,049,166	Y3448C	probably benign	Het
Dok5	G	A	2: 170,800,896	G38D	probably damaging	Het
Doxl2	T	A	6: 48,976,539	I466N	probably damaging	Het
Epb41l1	A	G	2: 156,514,128	D528G	probably damaging	Het
Fat4	A	T	3: 38,983,395	Y3732F	probably damaging	Het
Fgfr4	A	T	13: 55,166,964	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,268,614	D328V	probably benign	Het
Foxp1	A	G	6: 99,016,541	L134P	probably damaging	Het
Frem2	G	A	3: 53,517,029	R2996*	probably null	Het
Fuk	T	A	8: 110,889,072	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gcn1l1	T	A	5: 115,609,829	I1765N	probably benign	Het
Gm4787	T	A	12: 81,377,219	I722F	probably benign	Het
Gpc6	G	T	14: 116,926,092	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,740,027		probably null	Het
H2-Q2	T	C	17: 35,345,276		probably null	Het
Hapln2	C	A	3: 88,023,613	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607	E210*	probably null	Het
Hpse	T	A	5: 100,691,403	K360*	probably null	Het
Iqcj	A	T	3: 68,055,310	E68V	probably damaging	Het
Kat2a	T	C	11: 100,712,346		probably benign	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440	I371F	probably damaging	Het
Klhl30	C	A	1: 91,357,824	A356D	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Micu1	G	T	10: 59,863,288	M468I	probably benign	Het
Mrc1	A	G	2: 14,327,864	T1292A	probably damaging	Het
Myh8	G	A	11: 67,294,469	E849K	probably damaging	Het
Myom3	G	T	4: 135,803,233	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,210,330	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339		noncoding transcript	Het
Olfr1339	C	T	4: 118,735,249	A240V	possibly damaging	Het
Olfr1413	T	C	1: 92,573,908	S246P	probably damaging	Het
Olfr24	T	C	9: 18,755,095	D180G	probably damaging	Het
Olfr33	G	T	7: 102,713,581	H277Q	probably benign	Het
Olfr435	A	G	6: 43,202,069	I142V	probably benign	Het
Olfr592	A	T	7: 103,186,640	D13V	probably benign	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Olfr969	A	T	9: 39,795,647	I91F	probably benign	Het
Otop1	T	A	5: 38,302,851	M587K	probably damaging	Het
Pgm5	T	A	19: 24,834,815	I118F	probably damaging	Het
Phc2	A	G	4: 128,745,066	*41W	probably null	Het
Piezo2	A	T	18: 63,114,041	M532K	probably damaging	Het
Pjvk	A	T	2: 76,658,369	I295F	probably benign	Het
Popdc2	A	G	16: 38,363,120	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,042,567	N684K	probably damaging	Het
Prpf4b	T	A	13: 34,900,419	M930K	probably benign	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,671	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,784,550	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985	H636R	probably benign	Het
Rb1	T	C	14: 73,288,725	T169A	probably benign	Het
Rcc2	T	C	4: 140,717,117	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rrbp1	A	G	2: 143,954,198	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,792,944	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,944,130	R398H	probably damaging	Het
Selenoo	A	G	15: 89,099,282	M509V	probably benign	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,125,638	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,803,949	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,893,223	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Snx29	A	G	16: 11,400,843	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,033,965		probably null	Het
Stat5a	C	A	11: 100,874,090	T213N	probably benign	Het
Stt3a	A	T	9: 36,747,996	V349D	probably damaging	Het
Tcf20	A	T	15: 82,855,602	D549E	probably damaging	Het
Thbs2	T	A	17: 14,673,209	D903V	probably damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tmc1	A	T	19: 20,856,675	N241K	probably benign	Het
Tmem260	G	T	14: 48,477,609	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 52,043,730	E32D	probably damaging	Het
Trpa1	A	T	1: 14,899,401	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,547,975	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,705,552	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,930,189	R426L	probably damaging	Het
Ttn	A	C	2: 76,740,138	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,857,728	V792A	probably benign	Het
Zfp345	T	C	2: 150,472,658	T320A	probably benign	Het
Zfp407	T	C	18: 84,209,649	D1945G	possibly damaging	Het

Other mutations in Art5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Art5	APN	7	102097916	missense	probably null
IGL02507:Art5	APN	7	102099492	start codon destroyed	probably null	0.83
IGL03143:Art5	APN	7	102097897	missense	probably damaging	1.00
Buonarotti	UTSW	7	102098170	missense	probably damaging	1.00
R0632:Art5	UTSW	7	102097957	missense	probably damaging	1.00
R1215:Art5	UTSW	7	102097909	missense	probably damaging	0.99
R2151:Art5	UTSW	7	102098200	missense	possibly damaging	0.71
R2153:Art5	UTSW	7	102098200	missense	possibly damaging	0.71
R4533:Art5	UTSW	7	102098338	missense	probably benign
R4719:Art5	UTSW	7	102098494	splice site	probably null
R5042:Art5	UTSW	7	102099465	missense	probably damaging	0.99
R5098:Art5	UTSW	7	102097970	missense	probably damaging	0.98
R5341:Art5	UTSW	7	102098099	missense	probably benign	0.01
R6037:Art5	UTSW	7	102098384	missense	probably benign	0.01
R6037:Art5	UTSW	7	102098384	missense	probably benign	0.01
R6262:Art5	UTSW	7	102098131	missense	probably benign	0.00
R6850:Art5	UTSW	7	102098095	missense	possibly damaging	0.60
R7186:Art5	UTSW	7	102097329	missense	probably benign
R7270:Art5	UTSW	7	102097873	missense	probably damaging	1.00
R7381:Art5	UTSW	7	102098170	missense	probably damaging	1.00
R7729:Art5	UTSW	7	102098504	missense	possibly damaging	0.51
R8061:Art5	UTSW	7	102098249	missense	possibly damaging	0.92
R8112:Art5	UTSW	7	102098011	missense	probably benign
X0061:Art5	UTSW	7	102098380	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GGAGGTAAACTGTCCTAATCGG -3'
(R):5'- AGGCCTGCTGCTAAAGGAAG -3'

Sequencing Primer
(F):5'- GACAGAGTCCCCCAGCCTC -3'
(R):5'- CCTGCTGCTAAAGGAAGAGATG -3'

Posted On

2014-10-01