Incidental Mutation 'R5235:Stat2'
ID 398317
Institutional Source Beutler Lab
Gene Symbol Stat2
Ensembl Gene ENSMUSG00000040033
Gene Name signal transducer and activator of transcription 2
Synonyms 1600010G07Rik
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128106428-128128718 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 128126901 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: ENSMUST00000218862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220277
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null 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
R5264:Stat2 UTSW 10 128,116,934 (GRCm39) splice 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'- ACAAGTCCTGCTGGAGCTAG -3'
(R):5'- GTATGGAAGTCTCATCTCCACTG -3'

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