Incidental Mutation 'R1660:Pias2'
ID 186704
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 039696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1660 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 77152904-77241496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77207825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 230 (K230E)
Ref Sequence ENSEMBL: ENSMUSP00000131485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114776] [ENSMUST00000114777] [ENSMUST00000168882]
AlphaFold Q8C5D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000114776
AA Change: K230E

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: K230E

DomainStartEndE-ValueType
SAP 4 38 2.01e-5 SMART
low complexity region 95 110 N/A INTRINSIC
Pfam:PINIT 134 290 7e-45 PFAM
Pfam:zf-MIZ 335 384 4.9e-24 PFAM
low complexity region 468 476 N/A INTRINSIC
low complexity region 502 515 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114777
AA Change: K237E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: K237E

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 damaging
Transcript: ENSMUST00000168882
AA Change: K230E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: K230E

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C A 19: 31,870,507 (GRCm39) S3* probably null Het
Adgrv1 C T 13: 81,624,750 (GRCm39) V3740I probably benign Het
Aida T C 1: 183,079,127 (GRCm39) F22S probably damaging Het
Ankrd65 A T 4: 155,876,528 (GRCm39) D220V probably damaging Het
Antxr2 A T 5: 98,123,209 (GRCm39) C279* probably null Het
Ap3b1 T C 13: 94,545,320 (GRCm39) V191A probably damaging Het
Arhgef28 T C 13: 98,117,884 (GRCm39) K595E probably benign Het
Atp12a A G 14: 56,608,305 (GRCm39) T98A probably benign Het
Cdcp1 A T 9: 123,014,427 (GRCm39) S116T probably benign Het
Chrm1 T C 19: 8,656,582 (GRCm39) F429S possibly damaging Het
Ckap5 C A 2: 91,393,303 (GRCm39) Q395K possibly damaging Het
Cntn4 T A 6: 106,656,258 (GRCm39) I853K probably benign Het
Cyp2g1 G A 7: 26,509,107 (GRCm39) probably null Het
Dhx57 C T 17: 80,553,157 (GRCm39) V1257I possibly damaging Het
Disp1 A T 1: 182,869,306 (GRCm39) V1038D probably damaging Het
Dmxl2 A T 9: 54,358,314 (GRCm39) S462T possibly damaging Het
Dnaaf10 A T 11: 17,177,183 (GRCm39) E180D probably benign Het
Exoc3l A G 8: 106,019,692 (GRCm39) probably null Het
Fam210a T C 18: 68,409,167 (GRCm39) T48A probably benign Het
Fbxw5 G A 2: 25,393,286 (GRCm39) probably null Het
Fkbp9 T C 6: 56,850,434 (GRCm39) C437R probably damaging Het
Gpc5 A G 14: 115,636,691 (GRCm39) K458R probably benign Het
Grik2 C A 10: 49,120,439 (GRCm39) G56* probably null Het
Igsf10 T C 3: 59,238,706 (GRCm39) T492A probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lrrc51 T C 7: 101,562,645 (GRCm39) Y145C probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mapkbp1 A T 2: 119,849,029 (GRCm39) I682F possibly damaging Het
Mttp A T 3: 137,808,954 (GRCm39) V718D probably damaging Het
Myt1l T A 12: 29,945,272 (GRCm39) D1012E unknown Het
Nbn G A 4: 15,971,771 (GRCm39) G301D probably benign Het
Ncstn T A 1: 171,894,339 (GRCm39) S677C possibly damaging Het
Nod1 C A 6: 54,921,218 (GRCm39) probably null Het
Nos1ap A G 1: 170,342,206 (GRCm39) V52A possibly damaging Het
Or51f2 T G 7: 102,526,863 (GRCm39) Y179D probably damaging Het
Or52z14 T A 7: 103,252,882 (GRCm39) L7* probably null Het
Or5b98 T A 19: 12,931,055 (GRCm39) I34N probably damaging Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Phf13 T C 4: 152,076,962 (GRCm39) I77V probably benign Het
Poli A G 18: 70,642,535 (GRCm39) L469P probably damaging Het
Prag1 A T 8: 36,607,177 (GRCm39) T973S possibly damaging Het
Prpf40b C A 15: 99,203,442 (GRCm39) H101Q probably damaging Het
Prss50 T C 9: 110,691,557 (GRCm39) V287A possibly damaging Het
Rbm25 C T 12: 83,714,924 (GRCm39) probably benign Het
Rcor2 T C 19: 7,246,337 (GRCm39) V4A probably damaging Het
Rnf180 T C 13: 105,407,499 (GRCm39) T17A probably benign Het
Robo3 A T 9: 37,340,440 (GRCm39) V179E probably damaging Het
Sacs T A 14: 61,446,458 (GRCm39) S2835T probably damaging Het
Serpinb3c T A 1: 107,199,432 (GRCm39) H363L probably damaging Het
Setd1a T C 7: 127,395,841 (GRCm39) probably benign Het
Skp2 A C 15: 9,125,201 (GRCm39) V126G probably benign Het
Snph G A 2: 151,436,398 (GRCm39) Q108* probably null Het
Snrpa1 T A 7: 65,719,246 (GRCm39) V144E probably damaging Het
Tifab T C 13: 56,324,248 (GRCm39) E65G probably damaging Het
Tmem201 A T 4: 149,804,032 (GRCm39) Y468N probably damaging Het
Tpcn1 T C 5: 120,687,580 (GRCm39) N388S possibly damaging Het
Tssk4 A G 14: 55,888,029 (GRCm39) Q75R probably null Het
Tuba4a T C 1: 75,192,547 (GRCm39) N356D probably benign Het
Ugt2b5 T A 5: 87,287,477 (GRCm39) D230V probably benign Het
Ush2a T C 1: 188,648,261 (GRCm39) V4622A probably benign Het
Vmn2r11 T G 5: 109,201,724 (GRCm39) Y260S possibly damaging Het
Vmn2r89 C A 14: 51,693,693 (GRCm39) H348N possibly damaging Het
Vmn2r96 A T 17: 18,817,988 (GRCm39) M714L probably benign Het
Zbtb18 T C 1: 177,275,329 (GRCm39) S221P probably benign Het
Zfp418 A G 7: 7,184,789 (GRCm39) T251A probably benign Het
Zmynd15 A G 11: 70,354,328 (GRCm39) Y267C 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
R1866:Pias2 UTSW 18 77,240,412 (GRCm39) missense probably benign 0.03
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'- GGAGAGACTACACAGTCCAAGTCCAG -3'
(R):5'- GTTCACTGTTAAGACAACAAGCTGCC -3'

Sequencing Primer
(F):5'- GCGGTGAGTTTGATAGTTCCCT -3'
(R):5'- GGCCCCTAAGTATATGAATCATCAGG -3'
Posted On 2014-05-09