Incidental Mutation 'IGL03064:Socs2'
ID409612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs2
Ensembl Gene ENSMUSG00000020027
Gene Namesuppressor of cytokine signaling 2
SynonymsCIS2, D130043N08Rik, cytokine-inducible SH2 protein 2, STAT-induced STAT inhibitor 2, Cish2, SOCS-2, JAB, SSI-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL03064
Quality Score
Status
Chromosome10
Chromosomal Location95385362-95417180 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 95412851 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 133 (C133*)
Ref Sequence ENSEMBL: ENSMUSP00000129331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020215] [ENSMUST00000119917] [ENSMUST00000129942] [ENSMUST00000135822] [ENSMUST00000150432] [ENSMUST00000170690] [ENSMUST00000172070]
Predicted Effect probably null
Transcript: ENSMUST00000020215
AA Change: C133*
SMART Domains Protein: ENSMUSP00000020215
Gene: ENSMUSG00000020027
AA Change: C133*

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
SH2 46 135 5.22e-22 SMART
SOCS 154 195 3.15e-16 SMART
SOCS_box 160 194 1.06e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119917
AA Change: C133*
SMART Domains Protein: ENSMUSP00000113378
Gene: ENSMUSG00000020027
AA Change: C133*

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
SH2 46 135 5.22e-22 SMART
SOCS 154 195 3.15e-16 SMART
SOCS_box 160 194 1.06e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128854
Predicted Effect probably benign
Transcript: ENSMUST00000129942
SMART Domains Protein: ENSMUSP00000117576
Gene: ENSMUSG00000020027

DomainStartEndE-ValueType
SCOP:d1a81a2 30 62 8e-4 SMART
PDB:4JGH|A 45 62 7e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134918
Predicted Effect probably benign
Transcript: ENSMUST00000135822
SMART Domains Protein: ENSMUSP00000118720
Gene: ENSMUSG00000020027

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:SH2 48 80 1.9e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139210
AA Change: C86*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145847
Predicted Effect probably benign
Transcript: ENSMUST00000150432
SMART Domains Protein: ENSMUSP00000117785
Gene: ENSMUSG00000020027

DomainStartEndE-ValueType
SCOP:d1bg1a3 40 70 3e-7 SMART
PDB:2C9W|A 45 70 5e-12 PDB
Blast:SH2 46 70 8e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155148
Predicted Effect probably null
Transcript: ENSMUST00000170690
AA Change: C133*
SMART Domains Protein: ENSMUSP00000129331
Gene: ENSMUSG00000020027
AA Change: C133*

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
SH2 46 135 5.22e-22 SMART
SOCS 154 195 3.15e-16 SMART
SOCS_box 160 194 1.06e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172070
AA Change: C133*
SMART Domains Protein: ENSMUSP00000131875
Gene: ENSMUSG00000020027
AA Change: C133*

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
SH2 46 135 5.22e-22 SMART
SOCS 154 195 3.15e-16 SMART
SOCS_box 160 194 1.06e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181781
Coding Region Coverage
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 suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mutations in this gene cause accelerated postnatal growth. Homozygotes for a targeted mutation also show increased bone growth, enlargement of most organs, collagen deposition in the skin and some ducts and vessels, lower major urinary protein levels, and elevated IGF-I mRNA levels in some tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,575,641 T210A probably damaging Het
Adgb T A 10: 10,400,572 T351S probably benign Het
Akap9 A G 5: 3,968,755 H1112R probably damaging Het
Angptl6 A T 9: 20,875,643 Y261* probably null Het
Arhgef10l A C 4: 140,579,279 F395V probably damaging Het
Bub1 T C 2: 127,817,453 N328S probably benign Het
Cacna1s A G 1: 136,111,993 N1452D probably damaging Het
Cacna2d2 C A 9: 107,509,275 F200L probably damaging Het
Calca G A 7: 114,633,684 S110L probably benign Het
Ccdc120 G A X: 7,735,362 P263S probably benign Het
Dgki C A 6: 37,149,664 probably benign Het
Ear1 G T 14: 43,819,045 S122* probably null Het
F5 A T 1: 164,195,594 T1574S probably benign Het
Fam227b T C 2: 126,126,842 probably null Het
Gm20521 T A 14: 54,897,223 S301T possibly damaging Het
Hsd17b7 A T 1: 169,959,718 I239N probably benign Het
Itih1 C A 14: 30,941,557 E167D probably benign Het
Lama1 A T 17: 67,779,104 Y1446F probably benign Het
Lama3 C T 18: 12,439,349 T537M possibly damaging Het
Lars G T 18: 42,221,571 Y770* probably null Het
Lrp2 A T 2: 69,483,133 V2418E probably damaging Het
Maip1 A G 1: 57,407,200 E143G probably damaging Het
Mast4 G T 13: 102,760,964 S907* probably null Het
Mctp1 C T 13: 76,801,513 Q555* probably null Het
Med14 A T X: 12,747,503 D291E probably benign Het
Mgat2 T A 12: 69,185,003 V117D probably damaging Het
Mllt1 A T 17: 56,900,094 M250K probably benign Het
Myt1 A C 2: 181,797,801 Y372S probably benign Het
Naa16 T A 14: 79,339,628 Q735H probably damaging Het
Ncf4 A G 15: 78,250,902 Y53C probably damaging Het
Nlrp4a A T 7: 26,449,509 K180N probably benign Het
Nova1 A G 12: 46,700,078 V472A probably damaging Het
Nup153 T C 13: 46,693,839 T705A probably benign Het
Odf2 T A 2: 29,901,079 N79K probably benign Het
Olfr1303 A G 2: 111,814,423 I101T possibly damaging Het
Pard3b G A 1: 62,198,771 probably benign Het
Pde8b G A 13: 95,046,398 T388I probably damaging Het
Pet2 A G X: 89,405,251 V424A possibly damaging Het
Phactr2 A G 10: 13,388,713 probably benign Het
Phf12 T C 11: 77,983,360 S17P probably damaging Het
Psmg2 T A 18: 67,646,032 L90* probably null Het
Ryr2 T C 13: 11,643,902 probably null Het
Sec23b T C 2: 144,582,032 F534L probably benign Het
Sin3b A G 8: 72,757,058 probably benign Het
Slc30a5 A T 13: 100,811,310 L520Q probably damaging Het
Slc35g3 T C 11: 69,761,069 H52R possibly damaging Het
Slc6a3 G T 13: 73,571,466 S538I probably damaging Het
Srebf2 G A 15: 82,192,222 R691H probably benign Het
Tlr11 C A 14: 50,361,100 P181Q probably damaging Het
Tlr7 T A X: 167,306,207 Q761L possibly damaging Het
Tmem120b T A 5: 123,102,273 Y90N possibly damaging Het
Tpcn1 T C 5: 120,537,566 I778V possibly damaging Het
Ttll8 T C 15: 88,919,594 T385A probably benign Het
Vmn1r223 G A 13: 23,249,983 R249H probably damaging Het
Vmn2r53 A T 7: 12,601,010 I241N possibly damaging Het
Wdfy3 T C 5: 101,935,997 R808G probably damaging Het
Zfyve26 T A 12: 79,261,791 S231C probably damaging Het
Other mutations in Socs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
samson UTSW 10 95413081 nonsense probably null
R1412:Socs2 UTSW 10 95414918 missense probably benign
R1617:Socs2 UTSW 10 95413081 nonsense probably null
R1921:Socs2 UTSW 10 95413038 nonsense probably null
R5261:Socs2 UTSW 10 95392819 missense unknown
R5638:Socs2 UTSW 10 95392883 missense unknown
Posted OnAug 02, 2016