Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Socs2'

409612

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

95221224-95253042 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 95248713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 133 (C133*)

Ref Sequence

ENSEMBL: ENSMUSP00000131875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020215] [ENSMUST00000119917] [ENSMUST00000129942] [ENSMUST00000135822] [ENSMUST00000170690] [ENSMUST00000172070] [ENSMUST00000150432]

AlphaFold

O35717

Predicted Effect

probably null
Transcript: ENSMUST00000020215
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000020215
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
Pfam:SH2	48	80	1.9e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170690
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000129331
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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: ENSMUST00000139210
AA Change: C86*

SMART Domains

Protein: ENSMUSP00000121305
Gene: ENSMUSG00000020027
AA Change: C86*

Domain	Start	End	E-Value	Type
SH2	1	89	5.07e-20	SMART
SOCS	108	149	3.15e-16	SMART
SOCS_box	114	148	1.06e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145847

Predicted Effect

probably benign
Transcript: ENSMUST00000150432

SMART Domains

Protein: ENSMUSP00000117785
Gene: ENSMUSG00000020027

Domain	Start	End	E-Value	Type
SCOP:d1bg1a3	40	70	3e-7	SMART
PDB:2C9W\|A	45	70	5e-12	PDB
Blast:SH2	46	70	8e-11	BLAST

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,174,864 (GRCm39)	T210A	probably damaging	Het
Adgb	T	A	10: 10,276,316 (GRCm39)	T351S	probably benign	Het
Akap9	A	G	5: 4,018,755 (GRCm39)	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,786,939 (GRCm39)	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,306,590 (GRCm39)	F395V	probably damaging	Het
Bub1	T	C	2: 127,659,373 (GRCm39)	N328S	probably benign	Het
Cacna1s	A	G	1: 136,039,731 (GRCm39)	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,386,474 (GRCm39)	F200L	probably damaging	Het
Calca	G	A	7: 114,232,919 (GRCm39)	S110L	probably benign	Het
Ccdc120	G	A	X: 7,601,601 (GRCm39)	P263S	probably benign	Het
Dcaf8l	A	G	X: 88,448,857 (GRCm39)	V424A	possibly damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
F5	A	T	1: 164,023,163 (GRCm39)	T1574S	probably benign	Het
Fam227b	T	C	2: 125,968,762 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,134,680 (GRCm39)	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,787,287 (GRCm39)	I239N	probably benign	Het
Itih1	C	A	14: 30,663,514 (GRCm39)	E163D	probably benign	Het
Lama1	A	T	17: 68,086,099 (GRCm39)	Y1446F	probably benign	Het
Lama3	C	T	18: 12,572,406 (GRCm39)	T537M	possibly damaging	Het
Lars1	G	T	18: 42,354,636 (GRCm39)	Y770*	probably null	Het
Lrp2	A	T	2: 69,313,477 (GRCm39)	V2418E	probably damaging	Het
Maip1	A	G	1: 57,446,359 (GRCm39)	E143G	probably damaging	Het
Mast4	G	T	13: 102,897,472 (GRCm39)	S739*	probably null	Het
Mctp1	C	T	13: 76,949,632 (GRCm39)	Q555*	probably null	Het
Med14	A	T	X: 12,613,742 (GRCm39)	D291E	probably benign	Het
Mgat2	T	A	12: 69,231,777 (GRCm39)	V117D	probably damaging	Het
Mllt1	A	T	17: 57,207,094 (GRCm39)	M250K	probably benign	Het
Myt1	A	C	2: 181,439,594 (GRCm39)	Y372S	probably benign	Het
Naa16	T	A	14: 79,577,068 (GRCm39)	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,135,102 (GRCm39)	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,148,934 (GRCm39)	K180N	probably benign	Het
Nova1	A	G	12: 46,746,861 (GRCm39)	V472A	probably damaging	Het
Nup153	T	C	13: 46,847,315 (GRCm39)	T705A	probably benign	Het
Odf2	T	A	2: 29,791,091 (GRCm39)	N79K	probably benign	Het
Or4f7	A	G	2: 111,644,768 (GRCm39)	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,237,930 (GRCm39)		probably benign	Het
Pde8b	G	A	13: 95,182,906 (GRCm39)	T388I	probably damaging	Het
Phactr2	A	G	10: 13,264,457 (GRCm39)		probably benign	Het
Phf12	T	C	11: 77,874,186 (GRCm39)	S17P	probably damaging	Het
Psmg2	T	A	18: 67,779,102 (GRCm39)	L90*	probably null	Het
Ryr2	T	C	13: 11,658,788 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,423,952 (GRCm39)	F534L	probably benign	Het
Sin3b	A	G	8: 73,483,686 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,947,818 (GRCm39)	L463Q	probably damaging	Het
Slc35g3	T	C	11: 69,651,895 (GRCm39)	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,719,585 (GRCm39)	S538I	probably damaging	Het
Srebf2	G	A	15: 82,076,423 (GRCm39)	R691H	probably benign	Het
Tlr11	C	A	14: 50,598,557 (GRCm39)	P181Q	probably damaging	Het
Tlr7	T	A	X: 166,089,203 (GRCm39)	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,240,336 (GRCm39)	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,675,631 (GRCm39)	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,803,797 (GRCm39)	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,434,153 (GRCm39)	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,334,937 (GRCm39)	I241N	possibly damaging	Het
Wdfy3	T	C	5: 102,083,863 (GRCm39)	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,308,565 (GRCm39)	S231C	probably damaging	Het

Other mutations in Socs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9027:Socs2	UTSW	10	95,248,948 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02