Incidental Mutation 'R5261:Socs2'
ID 401450
Institutional Source Beutler Lab
Gene Symbol Socs2
Ensembl Gene ENSMUSG00000020027
Gene Name suppressor of cytokine signaling 2
Synonyms SOCS-2, D130043N08Rik, STAT-induced STAT inhibitor 2, Cish2, JAB, cytokine-inducible SH2 protein 2, SSI-2, CIS2
MMRRC Submission 042830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R5261 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 95221224-95253042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95228681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 190 (I190L)
Gene Model predicted gene model for transcript(s):
AlphaFold O35717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130784
Predicted Effect unknown
Transcript: ENSMUST00000139210
AA Change: I190L
SMART Domains Protein: ENSMUSP00000121305
Gene: ENSMUSG00000020027
AA Change: I190L

DomainStartEndE-ValueType
SH2 1 89 5.07e-20 SMART
SOCS 108 149 3.15e-16 SMART
SOCS_box 114 148 1.06e-9 SMART
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 96% (64/67)
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
6820408C15Rik C G 2: 152,282,777 (GRCm39) P211A probably damaging Het
Ambra1 G A 2: 91,715,951 (GRCm39) V761M probably damaging Het
Amfr T A 8: 94,702,798 (GRCm39) probably null Het
Asphd1 C A 7: 126,545,287 (GRCm39) A357S probably benign Het
Brd3 C A 2: 27,353,931 (GRCm39) Q60H probably damaging Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cep152 T A 2: 125,406,125 (GRCm39) H1469L probably benign Het
Coro1a G T 7: 126,299,816 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,171,555 (GRCm39) L871Q probably benign Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Enpep T G 3: 129,099,075 (GRCm39) D467A probably damaging Het
Extl2 G A 3: 115,821,013 (GRCm39) A273T probably benign Het
Foxi3 T A 6: 70,937,500 (GRCm39) F218Y probably damaging Het
Golga2 A G 2: 32,194,166 (GRCm39) M521V probably benign Het
Gpr142 T A 11: 114,695,168 (GRCm39) N44K probably damaging Het
Gtf2ird2 A G 5: 134,245,061 (GRCm39) I440V probably benign Het
Gucy1b2 T A 14: 62,642,028 (GRCm39) K698I probably damaging Het
Hspa1b T C 17: 35,177,983 (GRCm39) M1V probably null Het
Ints9 T A 14: 65,245,521 (GRCm39) Y260N probably benign Het
Khdc3 T G 9: 73,010,768 (GRCm39) V182G possibly damaging Het
Ky A G 9: 102,414,798 (GRCm39) probably null Het
Map2k1 T A 9: 64,098,843 (GRCm39) I263F probably damaging Het
Or13a18 A C 7: 140,190,576 (GRCm39) I166L probably benign Het
Or2t47 T C 11: 58,442,877 (GRCm39) S63G probably benign Het
Or5ak25 A G 2: 85,269,241 (GRCm39) V87A probably benign Het
Otogl T A 10: 107,613,453 (GRCm39) H2004L probably benign Het
Palmd T C 3: 116,717,009 (GRCm39) H496R probably benign Het
Papolb C G 5: 142,515,409 (GRCm39) R78P possibly damaging Het
Pcdh10 G A 3: 45,336,247 (GRCm39) G854R probably damaging Het
Pdcd11 A G 19: 47,101,976 (GRCm39) I1054V probably benign Het
Pik3ap1 A T 19: 41,364,545 (GRCm39) L58Q probably damaging Het
Ppp2ca A G 11: 51,989,937 (GRCm39) K21R probably benign Het
Prmt5 A C 14: 54,745,373 (GRCm39) I598S probably damaging Het
Pycr1 T A 11: 120,532,050 (GRCm39) I239F probably damaging Het
R3hdm2 C T 10: 127,334,285 (GRCm39) R896C probably damaging Het
Rev3l C T 10: 39,722,725 (GRCm39) P699S probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Sel1l A T 12: 91,791,658 (GRCm39) M351K possibly damaging Het
Sesn2 A G 4: 132,226,617 (GRCm39) L159P probably damaging Het
Slc35f4 T A 14: 49,540,946 (GRCm39) probably benign Het
Slc3a1 C A 17: 85,359,403 (GRCm39) N409K probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slco1c1 T C 6: 141,492,502 (GRCm39) F246S probably damaging Het
Srsf1 T A 11: 87,938,684 (GRCm39) I7N possibly damaging Het
Stox1 T A 10: 62,503,620 (GRCm39) H145L probably damaging Het
Trap1 A T 16: 3,874,286 (GRCm39) I243N probably damaging Het
Trav7-3 T C 14: 53,681,207 (GRCm39) I83T probably benign Het
Trmt9b T C 8: 36,979,078 (GRCm39) I227T probably benign Het
Tuft1 A T 3: 94,546,712 (GRCm39) I42K possibly damaging Het
Umps A G 16: 33,787,344 (GRCm39) V3A probably benign Het
Vim A C 2: 13,579,643 (GRCm39) E134A probably null Het
Vmn1r28 C A 6: 58,242,524 (GRCm39) H122Q probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vsig10l T A 7: 43,120,274 (GRCm39) V760D probably damaging Het
Xrn1 A G 9: 95,927,596 (GRCm39) D1460G probably benign Het
Zfp282 A G 6: 47,874,824 (GRCm39) D343G probably damaging Het
Zfp35 A G 18: 24,136,778 (GRCm39) H374R probably damaging Het
Other mutations in Socs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03064:Socs2 APN 10 95,248,713 (GRCm39) nonsense probably null
samson UTSW 10 95,248,943 (GRCm39) nonsense probably null
R1412:Socs2 UTSW 10 95,250,780 (GRCm39) missense probably benign
R1617:Socs2 UTSW 10 95,248,943 (GRCm39) nonsense probably null
R1921:Socs2 UTSW 10 95,248,900 (GRCm39) nonsense probably null
R5638:Socs2 UTSW 10 95,228,745 (GRCm39) missense unknown
R7689:Socs2 UTSW 10 95,250,845 (GRCm39) start gained probably benign
R7957:Socs2 UTSW 10 95,250,812 (GRCm39) missense probably benign 0.11
R8744:Socs2 UTSW 10 95,228,662 (GRCm39) missense
R9027:Socs2 UTSW 10 95,248,948 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGGAACCTTCTAGTCAGTTGC -3'
(R):5'- ATCCATAGGAAGGGGCTTGG -3'

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