Mutagenetix > Incidental Mutation

Incidental Mutation 'R3605:Art2b'

269050

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

040670-MU

Accession Numbers

Essential gene?

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

Stock #

R3605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101226177-101234807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101229152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 249 (N249I)

Ref Sequence

ENSEMBL: ENSMUSP00000147267 (fasta)

Gene Model

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

AlphaFold

O35975

Predicted Effect

probably benign
Transcript: ENSMUST00000063920
AA Change: N249I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065658
Gene: ENSMUSG00000030651
AA Change: N249I

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 benign
Transcript: ENSMUST00000209526
AA Change: N249I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.3%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	C	T	3: 96,589,497 (GRCm39)	Q239*	probably null	Het
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cd200r1	A	G	16: 44,609,939 (GRCm39)	T53A	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Crb1	T	A	1: 139,165,077 (GRCm39)	T1016S	probably damaging	Het
Esrrg	A	G	1: 187,943,299 (GRCm39)	H424R	possibly damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Flrt3	T	A	2: 140,503,287 (GRCm39)	N114Y	probably damaging	Het
Fsip2	T	C	2: 82,815,253 (GRCm39)	V3662A	probably benign	Het
Gabra6	T	A	11: 42,205,777 (GRCm39)	I359F	probably benign	Het
Gal	A	G	19: 3,464,026 (GRCm39)		probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5814	G	T	17: 47,721,430 (GRCm39)	R48L	probably damaging	Het
Hcn1	G	A	13: 118,111,788 (GRCm39)	G584D	unknown	Het
Iqgap1	T	C	7: 80,373,537 (GRCm39)	D1484G	probably benign	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lrrc8d	G	A	5: 105,974,873 (GRCm39)	C93Y	unknown	Het
Mnt	T	A	11: 74,727,746 (GRCm39)	S211T	possibly damaging	Het
Mtdh	T	A	15: 34,114,258 (GRCm39)		probably benign	Het
Nxt1	T	C	2: 148,517,399 (GRCm39)	W47R	probably damaging	Het
Or4f59	T	A	2: 111,873,168 (GRCm39)	I70F	probably benign	Het
Or5k3	T	C	16: 58,969,846 (GRCm39)	I211T	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rpap2	A	G	5: 107,768,395 (GRCm39)	D411G	probably damaging	Het
Sapcd1	A	G	17: 35,246,781 (GRCm39)	F36L	probably damaging	Het
Svep1	A	T	4: 58,066,542 (GRCm39)	S3181T	probably benign	Het
Tgfbr2	G	A	9: 115,938,960 (GRCm39)	T314I	probably benign	Het
Thbs4	G	T	13: 92,894,467 (GRCm39)	C685*	probably null	Het
Tk2	A	G	8: 104,957,803 (GRCm39)	V181A	possibly damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Ttn	C	T	2: 76,661,788 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Yif1b	C	T	7: 28,937,835 (GRCm39)	A7V	possibly damaging	Het
Zfp738	A	T	13: 67,819,508 (GRCm39)	L151*	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
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
R5658:Art2b	UTSW	7	101,229,569 (GRCm39)	missense	probably damaging	0.99
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'- TGTCAGGGCTACTCTGACTG -3'
(R):5'- TCATCAGAACCTGCTTGGGG -3'

Sequencing Primer
(F):5'- GATGTACCATTACTGCAGCACATGTC -3'
(R):5'- ACCTGCTTGGGGGTTAATATCAAAG -3'

Posted On

2015-02-19