Incidental Mutation 'R6024:Art2b'
ID 479084
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 044196-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6024 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101226177-101234807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101229587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 104 (I104T)
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: I104T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000065658
Gene: ENSMUSG00000030651
AA Change: I104T

DomainStartEndE-ValueType
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: I104T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,624,624 (GRCm39) F3782L probably benign Het
Akr1d1 T C 6: 37,535,417 (GRCm39) I267T probably benign Het
Aoc1l1 A T 6: 48,953,030 (GRCm39) K318N possibly damaging Het
Arhgef5 T C 6: 43,252,068 (GRCm39) S940P probably benign Het
Avpr1a A G 10: 122,285,053 (GRCm39) Y115C probably damaging Het
Cdc42bpg T A 19: 6,367,526 (GRCm39) L995Q probably damaging Het
Cenatac T C 9: 44,329,249 (GRCm39) T13A possibly damaging Het
Clip1 T C 5: 123,753,152 (GRCm39) K210E possibly damaging Het
Cog4 C T 8: 111,608,112 (GRCm39) T735I probably damaging Het
Creb3l4 G A 3: 90,146,006 (GRCm39) S206L probably damaging Het
Csf3r C A 4: 125,931,310 (GRCm39) probably null Het
Dnah11 G T 12: 117,994,007 (GRCm39) S2346R probably benign Het
Dnai2 A T 11: 114,643,734 (GRCm39) I467F possibly damaging Het
Dpy19l4 A T 4: 11,276,876 (GRCm39) M523K probably damaging Het
Ebf3 T C 7: 136,802,264 (GRCm39) D407G probably damaging Het
Fbn2 A G 18: 58,209,908 (GRCm39) I991T probably benign Het
Gcc1 T C 6: 28,419,299 (GRCm39) T345A probably benign Het
Gm1527 C T 3: 28,974,752 (GRCm39) H522Y probably benign Het
Gm4846 T A 1: 166,317,696 (GRCm39) Y240F probably benign Het
Hmgcl T C 4: 135,682,926 (GRCm39) V126A probably benign Het
Ifit1bl2 G T 19: 34,597,438 (GRCm39) S59R probably benign Het
Itga6 A G 2: 71,617,577 (GRCm39) N32S probably benign Het
Lcor C A 19: 41,572,396 (GRCm39) P384T possibly damaging Het
Macc1 T C 12: 119,414,160 (GRCm39) S779P probably benign Het
Mctp1 G T 13: 76,533,280 (GRCm39) L209F probably damaging Het
Mink1 A G 11: 70,489,915 (GRCm39) N97S possibly damaging Het
Mst1r T A 9: 107,785,350 (GRCm39) V336E probably benign Het
Muc16 A T 9: 18,557,967 (GRCm39) S2775R unknown Het
Muc6 T A 7: 141,227,841 (GRCm39) T1316S possibly damaging Het
Myh11 T A 16: 14,095,567 (GRCm39) N65I probably damaging Het
Myo9a A G 9: 59,762,671 (GRCm39) N801D possibly damaging Het
Nkain2 A T 10: 31,827,281 (GRCm39) M103K probably damaging Het
Nkx2-2 T A 2: 147,025,961 (GRCm39) Y259F probably benign Het
Nrxn1 T C 17: 90,897,526 (GRCm39) M877V possibly damaging Het
Nxf1 C T 19: 8,745,108 (GRCm39) L453F probably damaging Het
Pcnt T C 10: 76,255,871 (GRCm39) S790G possibly damaging Het
Phf3 T C 1: 30,902,307 (GRCm39) D2G probably damaging Het
Phrf1 T C 7: 140,838,898 (GRCm39) probably benign Het
Ptpn3 C A 4: 57,248,653 (GRCm39) probably null Het
Pygl T C 12: 70,243,841 (GRCm39) T625A probably benign Het
R3hdm2 T A 10: 127,295,349 (GRCm39) F239I probably damaging Het
Sesn1 A T 10: 41,772,196 (GRCm39) I242F probably damaging Het
Shank2 C T 7: 143,733,768 (GRCm39) T105I probably benign Het
Skint3 T C 4: 112,147,543 (GRCm39) F350S possibly damaging Het
Slco5a1 T C 1: 13,014,294 (GRCm39) Y320C probably damaging Het
Syt11 A G 3: 88,669,416 (GRCm39) S159P probably benign Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tanc2 T C 11: 105,814,498 (GRCm39) S1981P probably damaging Het
Tmem200c A C 17: 69,148,722 (GRCm39) D435A possibly damaging Het
Trappc8 A G 18: 20,966,066 (GRCm39) V1125A probably damaging Het
Ttn A G 2: 76,644,487 (GRCm39) V4762A possibly damaging Het
Unc5d A G 8: 29,365,539 (GRCm39) S149P possibly damaging Het
Usf3 A T 16: 44,040,203 (GRCm39) N1561I probably damaging Het
Wdr4 A T 17: 31,720,272 (GRCm39) probably benign Het
Wdr49 T G 3: 75,209,133 (GRCm39) E612D probably benign Het
Other mutations in Art2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5658:Art2b UTSW 7 101,229,569 (GRCm39) missense probably damaging 0.99
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'- AAGATGAAGAACTGAACTGCCC -3'
(R):5'- CAGTATGAGAGCTGTGTCGAAG -3'

Sequencing Primer
(F):5'- GATGAAGAACTGAACTGCCCAAATCG -3'
(R):5'- GACATGGAGAAAAAGGCACCCC -3'
Posted On 2017-06-26