Mutagenetix > Incidental Mutation

Incidental Mutation 'R5658:Art2b'

443928

Institutional Source

Beutler Lab

Gene Symbol

Art2b

Ensembl Gene

ENSMUSG00000030651

Gene Name

ADP-ribosyltransferase 2b

Synonyms

ART2.2, Rt6-2, Rt-6, Rt6

MMRRC Submission

043172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101226177-101234807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101229569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 110 (V110A)

Ref Sequence

ENSEMBL: ENSMUSP00000147267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063920] [ENSMUST00000209526]

AlphaFold

O35975

Predicted Effect

probably damaging
Transcript: ENSMUST00000063920
AA Change: V110A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065658
Gene: ENSMUSG00000030651
AA Change: V110A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ART	27	242	3.2e-87	PFAM
low complexity region	269	289	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209526
AA Change: V110A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,644 (GRCm39)	L221P	probably damaging	Het
Bccip	A	G	7: 133,319,349 (GRCm39)	I147V	possibly damaging	Het
Bcl9l	G	T	9: 44,420,466 (GRCm39)	G1254W	probably damaging	Het
Cep68	C	T	11: 20,191,885 (GRCm39)		probably null	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
F5	C	A	1: 164,019,907 (GRCm39)	T794K	probably damaging	Het
Faf2	T	C	13: 54,789,347 (GRCm39)	V55A	probably benign	Het
Gm7535	T	A	17: 18,131,582 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,326,852 (GRCm39)	V1471A	possibly damaging	Het
Kbtbd4	T	A	2: 90,736,423 (GRCm39)	S145T	probably benign	Het
Kcnh3	C	T	15: 99,139,957 (GRCm39)	P948S	possibly damaging	Het
Kcnq1	G	A	7: 142,917,432 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,815,770 (GRCm39)		probably null	Het
Krt9	A	G	11: 100,081,593 (GRCm39)	I312T	probably damaging	Het
Lactb2	T	A	1: 13,697,642 (GRCm39)	H254L	probably benign	Het
Lama5	A	T	2: 179,850,069 (GRCm39)	Y187*	probably null	Het
Ldc1	A	G	4: 130,114,234 (GRCm39)	V61A	probably benign	Het
Maf1	T	C	15: 76,237,420 (GRCm39)	V154A	possibly damaging	Het
Mlh1	A	G	9: 111,076,448 (GRCm39)	V303A	probably damaging	Het
Mrgprh	A	T	17: 13,096,646 (GRCm39)	K295N	possibly damaging	Het
Mtrr	G	T	13: 68,717,034 (GRCm39)	A393D	possibly damaging	Het
Myef2l	C	T	3: 10,153,837 (GRCm39)	S202F	probably damaging	Het
Nebl	A	G	2: 17,353,663 (GRCm39)	Y963H	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pmpcb	A	G	5: 21,943,999 (GRCm39)	T78A	probably damaging	Het
Ptprz1	G	A	6: 23,016,188 (GRCm39)	R1677Q	probably damaging	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,790,514 (GRCm39)		probably null	Het
Sh3bp2	T	A	5: 34,714,291 (GRCm39)	I162N	probably damaging	Het
Slc38a10	C	T	11: 119,996,218 (GRCm39)	A960T	probably benign	Het
Sntb1	C	T	15: 55,655,472 (GRCm39)	C248Y	probably damaging	Het
Sowahc	G	A	10: 59,059,049 (GRCm39)	R395H	possibly damaging	Het
Tbc1d5	T	C	17: 51,120,869 (GRCm39)	R416G	probably benign	Het
Tnfaip6	A	T	2: 51,941,047 (GRCm39)	Y196F	possibly damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Try5	T	C	6: 41,289,361 (GRCm39)	R72G	probably damaging	Het
Vwa8	T	C	14: 79,219,838 (GRCm39)		probably null	Het

Other mutations in Art2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Art2b	APN	7	101,229,776 (GRCm39)	missense	probably damaging	1.00
IGL03085:Art2b	APN	7	101,229,785 (GRCm39)	missense	probably damaging	1.00
R1488:Art2b	UTSW	7	101,229,414 (GRCm39)	missense	probably damaging	1.00
R1813:Art2b	UTSW	7	101,229,236 (GRCm39)	missense	probably benign	0.38
R1896:Art2b	UTSW	7	101,229,236 (GRCm39)	missense	probably benign	0.38
R1941:Art2b	UTSW	7	101,229,524 (GRCm39)	missense	probably damaging	1.00
R1944:Art2b	UTSW	7	101,229,153 (GRCm39)	missense	probably benign	0.00
R1967:Art2b	UTSW	7	101,229,414 (GRCm39)	missense	probably damaging	1.00
R2019:Art2b	UTSW	7	101,229,194 (GRCm39)	missense	probably benign	0.02
R3605:Art2b	UTSW	7	101,229,152 (GRCm39)	missense	probably benign	0.00
R4424:Art2b	UTSW	7	101,229,129 (GRCm39)	missense	probably benign	0.23
R4960:Art2b	UTSW	7	101,229,437 (GRCm39)	missense	probably damaging	1.00
R6024:Art2b	UTSW	7	101,229,587 (GRCm39)	missense	probably benign	0.03
R6223:Art2b	UTSW	7	101,229,158 (GRCm39)	missense	possibly damaging	0.88
R6980:Art2b	UTSW	7	101,229,680 (GRCm39)	missense	probably benign	0.01
R7184:Art2b	UTSW	7	101,229,658 (GRCm39)	missense	probably benign	0.17
R8954:Art2b	UTSW	7	101,229,110 (GRCm39)	critical splice donor site	probably null
R8991:Art2b	UTSW	7	101,229,590 (GRCm39)	missense	probably damaging	0.96
Z1176:Art2b	UTSW	7	101,228,089 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGATGAAGAACTGAACTGCCC -3'
(R):5'- ATCAGTATGAGAGCTGTGTCGAAG -3'

Sequencing Primer
(F):5'- GATGAAGAACTGAACTGCCCAAATCG -3'
(R):5'- GGCACCCCAGCTGTTACAAG -3'

Posted On

2016-11-09