Incidental Mutation 'R5264:Stat2'
ID 401614
Institutional Source Beutler Lab
Gene Symbol Stat2
Ensembl Gene ENSMUSG00000040033
Gene Name signal transducer and activator of transcription 2
Synonyms 1600010G07Rik
MMRRC Submission 042832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R5264 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128106428-128128718 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 128116934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085708] [ENSMUST00000105238]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000085708
SMART Domains Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 138 314 5e-52 PFAM
Pfam:STAT_bind 316 564 1.2e-96 PFAM
SH2 576 652 4.71e-6 SMART
internal_repeat_1 750 778 6.35e-10 PROSPERO
internal_repeat_1 822 850 6.35e-10 PROSPERO
Pfam:STAT2_C 853 907 1.1e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105238
SMART Domains Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 141 314 2.6e-49 PFAM
Pfam:STAT_bind 316 564 1.5e-67 PFAM
SH2 577 653 4.71e-6 SMART
internal_repeat_1 751 779 6.69e-10 PROSPERO
internal_repeat_1 823 851 6.69e-10 PROSPERO
Pfam:STAT2_C 854 908 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220142
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Immune response is impaired in homozygous null mice. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4) Chemically induced(1)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ckap2l A T 2: 129,127,299 (GRCm39) M293K probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Dnai7 A G 6: 145,127,502 (GRCm39) V469A probably benign Het
Efcab7 G A 4: 99,735,372 (GRCm39) R132H probably benign Het
Elovl4 T C 9: 83,662,817 (GRCm39) T239A probably benign Het
Fank1 A G 7: 133,481,621 (GRCm39) D240G probably damaging Het
Fbln5 T A 12: 101,723,703 (GRCm39) M346L possibly damaging Het
Fbxl21 T C 13: 56,680,136 (GRCm39) F174L probably benign Het
Gns A G 10: 121,216,090 (GRCm39) D279G probably benign Het
Hmcn1 A G 1: 150,555,265 (GRCm39) V2502A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Large2 A G 2: 92,205,088 (GRCm39) probably benign Het
Lrrc8b A T 5: 105,628,118 (GRCm39) I155F probably damaging Het
Morc2b T C 17: 33,357,353 (GRCm39) I140V probably benign Het
Mrgprb5 G A 7: 47,817,796 (GRCm39) S313L probably benign Het
Nectin4 A T 1: 171,211,273 (GRCm39) T266S probably benign Het
Nsd1 C T 13: 55,395,159 (GRCm39) A1023V possibly damaging Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Paqr8 A G 1: 21,005,332 (GRCm39) H162R possibly damaging Het
Pclo G A 5: 14,726,937 (GRCm39) probably benign Het
Phactr4 T C 4: 132,098,293 (GRCm39) D325G probably damaging Het
Plcg2 A T 8: 118,361,532 (GRCm39) E1255V possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Polr3b A T 10: 84,503,280 (GRCm39) Q399L probably benign Het
Ppp1r35 G A 5: 137,778,286 (GRCm39) probably benign Het
Psd3 A T 8: 68,166,377 (GRCm39) D919E probably benign Het
Ptgs2 A G 1: 149,978,481 (GRCm39) T198A possibly damaging Het
Ptpn14 T C 1: 189,564,997 (GRCm39) probably null Het
Ptprk A G 10: 28,461,582 (GRCm39) Y39C probably damaging Het
R3hdm4 A G 10: 79,749,175 (GRCm39) Y75H probably benign Het
Rsph4a A G 10: 33,785,379 (GRCm39) Y430C probably damaging Het
Samd12 C T 15: 53,723,669 (GRCm39) C8Y probably damaging Het
Sema3e A C 5: 14,276,662 (GRCm39) L314F probably damaging Het
Sis A G 3: 72,857,089 (GRCm39) F401L probably damaging Het
Smoc1 T A 12: 81,151,474 (GRCm39) S64T probably damaging Het
Socs5 T A 17: 87,441,769 (GRCm39) H236Q probably damaging Het
Spaca1 C A 4: 34,049,863 (GRCm39) R45L possibly damaging Het
Spag6 A G 2: 18,750,324 (GRCm39) K457E probably benign Het
Tcp11l2 A G 10: 84,449,524 (GRCm39) I496M probably damaging Het
Ttll4 A G 1: 74,725,535 (GRCm39) I648V possibly damaging Het
Vmn2r67 T C 7: 84,801,453 (GRCm39) Y161C probably damaging Het
Wnt5b A T 6: 119,410,813 (GRCm39) V171E probably damaging Het
Zfp236 T C 18: 82,648,219 (GRCm39) K933E probably damaging Het
Zfp236 T C 18: 82,676,198 (GRCm39) E373G probably damaging Het
Zfp617 A G 8: 72,686,885 (GRCm39) Y405C probably damaging Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Stat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Stat2 APN 10 128,117,045 (GRCm39) missense probably benign 0.42
IGL02528:Stat2 APN 10 128,126,534 (GRCm39) missense probably benign 0.07
IGL02859:Stat2 APN 10 128,112,480 (GRCm39) missense probably damaging 1.00
IGL03119:Stat2 APN 10 128,119,386 (GRCm39) missense probably benign 0.15
numb UTSW 10 128,116,934 (GRCm39) splice site probably null
Paresthetic UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
1mM(1):Stat2 UTSW 10 128,113,592 (GRCm39) missense probably benign 0.06
R0098:Stat2 UTSW 10 128,119,131 (GRCm39) missense probably damaging 1.00
R0334:Stat2 UTSW 10 128,113,736 (GRCm39) missense probably damaging 1.00
R0496:Stat2 UTSW 10 128,112,378 (GRCm39) missense probably benign 0.04
R1478:Stat2 UTSW 10 128,117,969 (GRCm39) critical splice acceptor site probably null
R2857:Stat2 UTSW 10 128,112,770 (GRCm39) splice site probably null
R3698:Stat2 UTSW 10 128,114,662 (GRCm39) missense probably benign 0.30
R3870:Stat2 UTSW 10 128,113,762 (GRCm39) missense probably benign 0.17
R5231:Stat2 UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
R5235:Stat2 UTSW 10 128,126,901 (GRCm39) critical splice donor site probably null
R5855:Stat2 UTSW 10 128,119,363 (GRCm39) missense probably damaging 1.00
R6752:Stat2 UTSW 10 128,119,622 (GRCm39) missense probably damaging 1.00
R7459:Stat2 UTSW 10 128,112,434 (GRCm39) missense possibly damaging 0.95
R7467:Stat2 UTSW 10 128,113,772 (GRCm39) splice site probably null
R7599:Stat2 UTSW 10 128,113,066 (GRCm39) missense possibly damaging 0.45
R7756:Stat2 UTSW 10 128,126,597 (GRCm39) small deletion probably benign
R7814:Stat2 UTSW 10 128,126,597 (GRCm39) small deletion probably benign
R7992:Stat2 UTSW 10 128,120,831 (GRCm39) missense probably damaging 1.00
R8335:Stat2 UTSW 10 128,112,452 (GRCm39) missense possibly damaging 0.77
R8825:Stat2 UTSW 10 128,127,233 (GRCm39) missense possibly damaging 0.70
R9052:Stat2 UTSW 10 128,117,538 (GRCm39) missense probably damaging 1.00
R9104:Stat2 UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
R9244:Stat2 UTSW 10 128,118,634 (GRCm39) missense possibly damaging 0.93
R9405:Stat2 UTSW 10 128,114,634 (GRCm39) missense probably damaging 0.99
R9433:Stat2 UTSW 10 128,112,657 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTGCTCTGCCATATGCTTC -3'
(R):5'- CTACAGACCTTTGGAGCAGACG -3'

Sequencing Primer
(F):5'- GGCTGACCTTGAACTCAGTCTATAG -3'
(R):5'- GACGCTGAAGTAACTCCATGACTTG -3'
Posted On 2016-07-06