Mutagenetix > Incidental Mutations

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

CIS2, 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: 0.130) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

95385362-95417180 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 95412851 bp

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] [ENSMUST00000150432] [ENSMUST00000170690] [ENSMUST00000172070]

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: 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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155148

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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	N1186D	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	E163D	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	S739*	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			Het
Slc30a5	A	T	13: 100,811,310	L463Q	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

Allele	Source	Chr	Coord	Type	Predicted Effect
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 On

2016-08-02