Incidental Mutation 'R9027:Socs2'
ID 686813
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 068856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R9027 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 95221224-95253042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95248948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 55 (V55D)
Ref Sequence ENSEMBL: ENSMUSP00000020215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020215] [ENSMUST00000119917] [ENSMUST00000129942] [ENSMUST00000135822] [ENSMUST00000150432] [ENSMUST00000170690] [ENSMUST00000172070]
AlphaFold O35717
Predicted Effect probably damaging
Transcript: ENSMUST00000020215
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020215
Gene: ENSMUSG00000020027
AA Change: V55D

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 damaging
Transcript: ENSMUST00000119917
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113378
Gene: ENSMUSG00000020027
AA Change: V55D

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 damaging
Transcript: ENSMUST00000129942
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117576
Gene: ENSMUSG00000020027
AA Change: V55D

DomainStartEndE-ValueType
SCOP:d1a81a2 30 62 8e-4 SMART
PDB:4JGH|A 45 62 7e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000135822
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118720
Gene: ENSMUSG00000020027
AA Change: V55D

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:SH2 48 80 1.9e-8 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121305
Gene: ENSMUSG00000020027
AA Change: V8D

DomainStartEndE-ValueType
SH2 1 89 5.07e-20 SMART
SOCS 108 149 3.15e-16 SMART
SOCS_box 114 148 1.06e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150432
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117785
Gene: ENSMUSG00000020027
AA Change: V55D

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 probably damaging
Transcript: ENSMUST00000170690
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129331
Gene: ENSMUSG00000020027
AA Change: V55D

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 damaging
Transcript: ENSMUST00000172070
AA Change: V55D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131875
Gene: ENSMUSG00000020027
AA Change: V55D

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
Meta Mutation Damage Score 0.2312 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (59/60)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b C A 5: 121,640,788 (GRCm39) E86* probably null Het
Ahnak T G 19: 8,984,617 (GRCm39) I1967S possibly damaging Het
Alox12e A G 11: 70,212,600 (GRCm39) V83A possibly damaging Het
Arhgap20 A T 9: 51,754,977 (GRCm39) R439S probably damaging Het
Arl1 A G 10: 88,569,458 (GRCm39) I20V probably damaging Het
Atad2 T C 15: 57,995,628 (GRCm39) D93G probably benign Het
Btbd7 T G 12: 102,804,838 (GRCm39) K67N probably damaging Het
C130050O18Rik A G 5: 139,400,301 (GRCm39) N118S probably benign Het
Ccz1 A C 5: 143,946,120 (GRCm39) probably benign Het
Cdk19 A G 10: 40,355,728 (GRCm39) S479G unknown Het
Chrd A G 16: 20,555,737 (GRCm39) T503A probably damaging Het
Clca4b G A 3: 144,617,827 (GRCm39) R759* probably null Het
Cpa5 G T 6: 30,612,604 (GRCm39) M1I probably null Het
Cr2 A T 1: 194,834,029 (GRCm39) I920N probably benign Het
Crmp1 C A 5: 37,437,947 (GRCm39) Y430* probably null Het
Dars1 A T 1: 128,296,163 (GRCm39) V390D possibly damaging Het
Dmtn A G 14: 70,853,555 (GRCm39) S85P probably damaging Het
Ermardl1 A G 17: 15,242,364 (GRCm39) E416G unknown Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Gabrg3 T A 7: 56,423,122 (GRCm39) Y192F possibly damaging Het
Gpr3 A T 4: 132,938,209 (GRCm39) Y154* probably null Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ints5 C A 19: 8,873,322 (GRCm39) P427Q possibly damaging Het
Jhy A T 9: 40,828,823 (GRCm39) V361D probably benign Het
Klhl33 G A 14: 51,130,322 (GRCm39) Q131* probably null Het
Lama2 A T 10: 27,080,881 (GRCm39) C981S probably damaging Het
Mks1 C A 11: 87,748,041 (GRCm39) L225I probably damaging Het
Ms4a20 A T 19: 11,083,055 (GRCm39) Y122N probably damaging Het
Nfasc T A 1: 132,539,343 (GRCm39) S402C probably damaging Het
Or2a57 T C 6: 43,213,358 (GRCm39) I272T possibly damaging Het
Or4k50-ps1 A T 2: 111,522,517 (GRCm39) Y218F unknown Het
Or51g2 T C 7: 102,622,560 (GRCm39) D213G probably damaging Het
Pbx4 T A 8: 70,316,999 (GRCm39) D85E possibly damaging Het
Plcd1 T C 9: 118,913,709 (GRCm39) T50A probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Psen2 C A 1: 180,056,972 (GRCm39) E351* probably null Het
Rragd G A 4: 32,996,083 (GRCm39) V143I probably damaging Het
Rsph14 A T 10: 74,795,423 (GRCm39) M254K probably damaging Het
Selenoi C T 5: 30,437,607 (GRCm39) probably benign Het
Six6 T C 12: 72,986,935 (GRCm39) S36P Het
Slc12a8 T C 16: 33,445,215 (GRCm39) S370P probably benign Het
Slc25a46 A G 18: 31,716,432 (GRCm39) Y357H probably benign Het
Socs6 T C 18: 88,888,852 (GRCm39) E21G probably benign Het
Spata31e4 C T 13: 50,857,007 (GRCm39) Q882* probably null Het
Speg A T 1: 75,365,076 (GRCm39) T486S possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,165,473 (GRCm39) K82E probably damaging Het
Sugt1 A G 14: 79,825,155 (GRCm39) probably benign Het
Synm T C 7: 67,384,440 (GRCm39) Y1074C probably damaging Het
Sytl2 A G 7: 90,028,748 (GRCm39) T476A probably benign Het
Tbc1d1 T C 5: 64,414,349 (GRCm39) S237P probably benign Het
Tbc1d5 C A 17: 51,063,692 (GRCm39) M629I probably damaging Het
Tlr11 G A 14: 50,598,749 (GRCm39) G245D probably damaging Het
Tspan4 T C 7: 141,069,577 (GRCm39) V59A probably benign Het
Tulp4 T A 17: 6,283,472 (GRCm39) V1167E possibly damaging Het
Usp42 G A 5: 143,708,906 (GRCm39) T204M probably damaging Het
Vapb A G 2: 173,617,948 (GRCm39) K147R possibly damaging Het
Vmn1r228 T C 17: 20,997,422 (GRCm39) D32G probably benign Het
Vmn2r33 A G 7: 7,554,168 (GRCm39) F795S probably damaging Het
Vmn2r34 A T 7: 7,675,527 (GRCm39) N620K probably damaging Het
Vwf G T 6: 125,643,626 (GRCm39) C2389F Het
Wdr81 T C 11: 75,332,908 (GRCm39) E652G Het
Wdr81 A T 11: 75,343,207 (GRCm39) S687T probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null 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
R5261:Socs2 UTSW 10 95,228,681 (GRCm39) missense unknown
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
Predicted Primers PCR Primer
(F):5'- GTCAAACTGTTTAAGCTTGGACTTG -3'
(R):5'- TGTGGTAGGCCTTGGTAAAC -3'

Sequencing Primer
(F):5'- GCTTGGACTTGACACATATGATAG -3'
(R):5'- CTGCCAAGTACAGACCATAC -3'
Posted On 2021-11-19