Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Art5'

565229

Institutional Source

Beutler Lab

Gene Symbol

Art5

Ensembl Gene

ENSMUSG00000070424

Gene Name

ADP-ribosyltransferase 5

Synonyms

Yac-2

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101746086-101752052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101747080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 233 (V233D)

Ref Sequence

ENSEMBL: ENSMUSP00000102550 (fasta)

Gene Model

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

AlphaFold

P70352

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

probably damaging
Transcript: ENSMUST00000094128
AA Change: V233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: V233D

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
AA Change: V135D

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: V135D

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

probably damaging
Transcript: ENSMUST00000106937
AA Change: V233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: V233D

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: ENSMUST00000155078

SMART Domains

Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209809

Predicted Effect

probably benign
Transcript: ENSMUST00000210211

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.] 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	probably damaging	Het

Other mutations in Art5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Art5	APN	7	101,747,123 (GRCm39)	missense	probably null
IGL02507:Art5	APN	7	101,748,699 (GRCm39)	start codon destroyed	probably null	0.83
IGL03143:Art5	APN	7	101,747,104 (GRCm39)	missense	probably damaging	1.00
Buonarotti	UTSW	7	101,747,377 (GRCm39)	missense	probably damaging	1.00
R0632:Art5	UTSW	7	101,747,164 (GRCm39)	missense	probably damaging	1.00
R1215:Art5	UTSW	7	101,747,116 (GRCm39)	missense	probably damaging	0.99
R2151:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R2152:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R2153:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R4533:Art5	UTSW	7	101,747,545 (GRCm39)	missense	probably benign
R4719:Art5	UTSW	7	101,747,701 (GRCm39)	splice site	probably null
R5042:Art5	UTSW	7	101,748,672 (GRCm39)	missense	probably damaging	0.99
R5098:Art5	UTSW	7	101,747,177 (GRCm39)	missense	probably damaging	0.98
R5341:Art5	UTSW	7	101,747,306 (GRCm39)	missense	probably benign	0.01
R6037:Art5	UTSW	7	101,747,591 (GRCm39)	missense	probably benign	0.01
R6037:Art5	UTSW	7	101,747,591 (GRCm39)	missense	probably benign	0.01
R6262:Art5	UTSW	7	101,747,338 (GRCm39)	missense	probably benign	0.00
R6850:Art5	UTSW	7	101,747,302 (GRCm39)	missense	possibly damaging	0.60
R7186:Art5	UTSW	7	101,746,536 (GRCm39)	missense	probably benign
R7381:Art5	UTSW	7	101,747,377 (GRCm39)	missense	probably damaging	1.00
R7729:Art5	UTSW	7	101,747,711 (GRCm39)	missense	possibly damaging	0.51
R8061:Art5	UTSW	7	101,747,456 (GRCm39)	missense	possibly damaging	0.92
R8112:Art5	UTSW	7	101,747,218 (GRCm39)	missense	probably benign
R8700:Art5	UTSW	7	101,748,862 (GRCm39)	unclassified	probably benign
R9043:Art5	UTSW	7	101,748,699 (GRCm39)	start codon destroyed	probably null	0.98
R9093:Art5	UTSW	7	101,747,396 (GRCm39)	missense	probably benign	0.00
R9605:Art5	UTSW	7	101,746,412 (GRCm39)	missense	probably benign
X0061:Art5	UTSW	7	101,747,587 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCTTGAACTCTCCCAGGACCTG -3'
(R):5'- TTTGAACCCAAGAGGCTGGG -3'

Sequencing Primer
(F):5'- CAAGTGGTTCCTGAAGGCTC -3'
(R):5'- AGGCTGGGGGACTCTGTC -3'

Posted On

2019-06-26