Incidental Mutation 'R1866:Pias2'
ID 208776
Institutional Source Beutler Lab
Gene Symbol Pias2
Ensembl Gene ENSMUSG00000025423
Gene Name protein inhibitor of activated STAT 2
Synonyms PIASxb, PIASxalpha, PIASxbeta, ARIP3, Miz1, 6330408K17Rik, Dib
MMRRC Submission 039889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1866 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 77152904-77241496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77240412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 589 (S589R)
Ref Sequence ENSEMBL: ENSMUSP00000131485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114777] [ENSMUST00000168882]
AlphaFold Q8C5D8
Predicted Effect probably benign
Transcript: ENSMUST00000114777
AA Change: S596R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: S596R

DomainStartEndE-ValueType
SAP 11 45 2.01e-5 SMART
low complexity region 102 117 N/A INTRINSIC
low complexity region 135 144 N/A INTRINSIC
Pfam:PINIT 145 297 4.8e-38 PFAM
Pfam:zf-MIZ 342 391 1.7e-24 PFAM
low complexity region 475 483 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
low complexity region 571 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168882
AA Change: S589R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: S589R

DomainStartEndE-ValueType
SAP 4 38 2.01e-5 SMART
low complexity region 95 110 N/A INTRINSIC
Pfam:PINIT 134 290 2.3e-44 PFAM
Pfam:zf-MIZ 335 384 2.6e-23 PFAM
low complexity region 468 476 N/A INTRINSIC
low complexity region 502 515 N/A INTRINSIC
low complexity region 564 603 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype although abnormalities are reported in the testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 A T 19: 23,870,195 (GRCm39) E9V probably benign Het
Armc8 T A 9: 99,418,333 (GRCm39) T32S probably benign Het
Atr T A 9: 95,752,658 (GRCm39) probably null Het
Blm A G 7: 80,143,862 (GRCm39) L859P probably benign Het
Cacna2d3 A T 14: 28,691,171 (GRCm39) F51L probably damaging Het
Cdcp2 A G 4: 106,964,197 (GRCm39) N349S probably damaging Het
Cfap57 G A 4: 118,457,124 (GRCm39) H442Y possibly damaging Het
Chrm3 A G 13: 9,928,517 (GRCm39) L173P probably damaging Het
Cpb1 C G 3: 20,317,920 (GRCm39) M201I probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Dnah3 A T 7: 119,528,079 (GRCm39) probably null Het
Dnah6 T A 6: 73,077,071 (GRCm39) Q2398L probably benign Het
Dpep2 A T 8: 106,716,080 (GRCm39) probably null Het
Eif2ak4 C A 2: 118,303,142 (GRCm39) T1504K probably damaging Het
Exoc6b A G 6: 84,828,896 (GRCm39) V496A probably damaging Het
Fam174a A C 1: 95,241,620 (GRCm39) S27R probably benign Het
Fat2 T A 11: 55,182,840 (GRCm39) Q1339L probably benign Het
Fkbpl T A 17: 34,864,797 (GRCm39) D188E possibly damaging Het
Focad A G 4: 88,325,402 (GRCm39) D89G possibly damaging Het
Fstl4 C A 11: 53,077,225 (GRCm39) Q661K probably benign Het
Gck T C 11: 5,853,253 (GRCm39) Y289C probably benign Het
Gm16181 T A 17: 35,442,913 (GRCm39) probably benign Het
Herc1 G A 9: 66,358,073 (GRCm39) G2385S probably damaging Het
Igfn1 T C 1: 135,902,606 (GRCm39) probably null Het
Il12b T C 11: 44,299,353 (GRCm39) W141R probably damaging Het
Itga6 T A 2: 71,664,414 (GRCm39) S517T probably benign Het
Kank1 A G 19: 25,388,813 (GRCm39) S801G probably benign Het
Klrh1 A G 6: 129,752,343 (GRCm39) probably null Het
Lctl A G 9: 64,039,003 (GRCm39) D205G probably damaging Het
Lhx3 A C 2: 26,093,986 (GRCm39) V79G probably damaging Het
Lrrc9 T C 12: 72,543,912 (GRCm39) I1127T probably damaging Het
Ltbp3 A T 19: 5,797,877 (GRCm39) E505D probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Map6 A G 7: 98,965,083 (GRCm39) S291G probably damaging Het
Mapk7 A G 11: 61,380,239 (GRCm39) F671L probably benign Het
Mau2 A G 8: 70,484,142 (GRCm39) W149R probably damaging Het
Mb21d2 C T 16: 28,647,267 (GRCm39) V236I possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Mical1 C A 10: 41,361,466 (GRCm39) P797Q probably benign Het
Mnx1 G A 5: 29,679,043 (GRCm39) R347C unknown Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nlrp2 G T 7: 5,330,715 (GRCm39) C560* probably null Het
Npat T A 9: 53,474,416 (GRCm39) L736H probably damaging Het
Nup155 T A 15: 8,145,010 (GRCm39) V147E probably damaging Het
Nxpe2 A G 9: 48,238,121 (GRCm39) F45L probably benign Het
Obscn T C 11: 58,951,741 (GRCm39) D4370G probably benign Het
Or2d3b A G 7: 106,514,273 (GRCm39) I289M probably damaging Het
Or4a79 T C 2: 89,551,550 (GRCm39) K302E probably benign Het
Or4c35 T C 2: 89,808,671 (GRCm39) L183S probably damaging Het
Or4d10 A G 19: 12,051,183 (GRCm39) V271A probably benign Het
Or52n4 A G 7: 104,294,004 (GRCm39) S190P probably benign Het
Or5g23 T A 2: 85,439,188 (GRCm39) H22L probably benign Het
Or8k3 A C 2: 86,059,072 (GRCm39) M81R probably damaging Het
Pcx T C 19: 4,671,249 (GRCm39) I1157T possibly damaging Het
Plcb1 T C 2: 135,186,093 (GRCm39) F687L probably benign Het
Plk5 G T 10: 80,196,403 (GRCm39) probably null Het
Pnpla2 T A 7: 141,035,329 (GRCm39) Y44N probably damaging Het
Ppp1r12a T A 10: 108,098,292 (GRCm39) D337E possibly damaging Het
Prl2c5 G T 13: 13,365,358 (GRCm39) probably null Het
Prom2 T C 2: 127,378,514 (GRCm39) D460G probably damaging Het
Pros1 A G 16: 62,748,498 (GRCm39) H657R possibly damaging Het
Prune2 A G 19: 17,100,856 (GRCm39) E2120G probably damaging Het
Rap2a T A 14: 120,716,347 (GRCm39) L70Q probably damaging Het
Rbl2 A T 8: 91,839,157 (GRCm39) E858D probably benign Het
Rbm48 T C 5: 3,645,997 (GRCm39) Y69C probably damaging Het
Rgs12 T A 5: 35,123,018 (GRCm39) I267N probably damaging Het
Rpusd2 G T 2: 118,865,728 (GRCm39) A142S probably benign Het
Rspo2 A T 15: 42,939,332 (GRCm39) W153R probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Serinc5 T A 13: 92,842,771 (GRCm39) M407K probably damaging Het
Slain2 T C 5: 73,114,665 (GRCm39) S299P probably damaging Het
Slc17a4 A G 13: 24,084,528 (GRCm39) Y419H possibly damaging Het
Slc1a6 T A 10: 78,627,183 (GRCm39) D173E probably damaging Het
Slc22a19 A T 19: 7,688,506 (GRCm39) I18N probably damaging Het
Slc37a3 A T 6: 39,336,902 (GRCm39) F91L probably damaging Het
Spag5 C A 11: 78,195,281 (GRCm39) T196K possibly damaging Het
Susd2 G T 10: 75,475,566 (GRCm39) A326D probably damaging Het
Syna G T 5: 134,588,769 (GRCm39) A60D probably damaging Het
Tchh A T 3: 93,355,067 (GRCm39) E1502D unknown Het
Tecta T C 9: 42,303,320 (GRCm39) H104R probably damaging Het
Tmed1 T C 9: 21,420,387 (GRCm39) D102G probably damaging Het
Trip12 T C 1: 84,722,781 (GRCm39) D128G probably damaging Het
Uroc1 A G 6: 90,338,506 (GRCm39) M656V probably benign Het
Usp47 T A 7: 111,701,077 (GRCm39) V1096D possibly damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r19 G T 6: 123,308,597 (GRCm39) probably null Het
Vmn2r86 A T 10: 130,282,255 (GRCm39) V787D probably damaging Het
Vmn2r87 A T 10: 130,308,441 (GRCm39) I599N possibly damaging Het
Vwf A G 6: 125,644,492 (GRCm39) D2449G possibly damaging Het
Zbtb7c T A 18: 76,269,977 (GRCm39) C22S probably benign Het
Zc3h7a A G 16: 10,965,168 (GRCm39) I655T possibly damaging Het
Zfp764l1 A G 7: 126,992,503 (GRCm39) W36R probably damaging Het
Other mutations in Pias2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Pias2 APN 18 77,220,907 (GRCm39) missense probably damaging 1.00
IGL01105:Pias2 APN 18 77,220,852 (GRCm39) missense probably damaging 1.00
IGL02379:Pias2 APN 18 77,232,844 (GRCm39) splice site probably benign
IGL02932:Pias2 APN 18 77,232,799 (GRCm39) missense probably damaging 1.00
IGL03181:Pias2 APN 18 77,220,938 (GRCm39) missense possibly damaging 0.83
IGL03389:Pias2 APN 18 77,185,354 (GRCm39) missense probably damaging 1.00
IGL03138:Pias2 UTSW 18 77,237,796 (GRCm39) critical splice donor site probably null
R0492:Pias2 UTSW 18 77,193,581 (GRCm39) missense probably damaging 1.00
R0577:Pias2 UTSW 18 77,184,977 (GRCm39) missense probably damaging 1.00
R1660:Pias2 UTSW 18 77,207,825 (GRCm39) missense probably damaging 1.00
R1901:Pias2 UTSW 18 77,185,139 (GRCm39) nonsense probably null
R1996:Pias2 UTSW 18 77,216,759 (GRCm39) critical splice donor site probably null
R2107:Pias2 UTSW 18 77,185,167 (GRCm39) missense probably benign 0.35
R4439:Pias2 UTSW 18 77,185,399 (GRCm39) missense probably damaging 1.00
R4603:Pias2 UTSW 18 77,217,803 (GRCm39) missense probably damaging 0.99
R4747:Pias2 UTSW 18 77,240,488 (GRCm39) makesense probably null
R4816:Pias2 UTSW 18 77,193,587 (GRCm39) critical splice donor site probably null
R5697:Pias2 UTSW 18 77,220,884 (GRCm39) missense probably damaging 1.00
R6265:Pias2 UTSW 18 77,184,954 (GRCm39) missense probably damaging 1.00
R6375:Pias2 UTSW 18 77,240,366 (GRCm39) missense possibly damaging 0.96
R6545:Pias2 UTSW 18 77,217,781 (GRCm39) missense possibly damaging 0.61
R6713:Pias2 UTSW 18 77,153,416 (GRCm39) splice site probably null
R7193:Pias2 UTSW 18 77,207,817 (GRCm39) missense possibly damaging 0.76
R7232:Pias2 UTSW 18 77,220,931 (GRCm39) missense probably benign 0.02
R7253:Pias2 UTSW 18 77,207,811 (GRCm39) missense probably damaging 0.97
R7259:Pias2 UTSW 18 77,240,416 (GRCm39) missense possibly damaging 0.73
R8018:Pias2 UTSW 18 77,216,654 (GRCm39) missense probably benign 0.00
R8534:Pias2 UTSW 18 77,185,083 (GRCm39) missense possibly damaging 0.68
R8879:Pias2 UTSW 18 77,234,464 (GRCm39) nonsense probably null
R9215:Pias2 UTSW 18 77,216,677 (GRCm39) missense probably damaging 1.00
X0009:Pias2 UTSW 18 77,232,793 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACCTTTTGGCTGTCAGTTGTAC -3'
(R):5'- TCTCTCAGAGAGCAAAGAATCC -3'

Sequencing Primer
(F):5'- GGCTGTCAGTTGTACATATCTAAC -3'
(R):5'- CTCTCAGAGAGCAAAGAATCCATTTG -3'
Posted On 2014-06-30