Mutagenetix > Incidental Mutation

Incidental Mutation 'R1617:Socs2'

174374

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

039654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95221224-95253042 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 95248943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 57 (E57*)

Ref Sequence

ENSEMBL: ENSMUSP00000131875 (fasta)

Gene Model

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

AlphaFold

O35717

Predicted Effect

probably null
Transcript: ENSMUST00000020215
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000020215
Gene: ENSMUSG00000020027
AA Change: E57*

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: E57*

SMART Domains

Protein: ENSMUSP00000113378
Gene: ENSMUSG00000020027
AA Change: E57*

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 null
Transcript: ENSMUST00000129942
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000117576
Gene: ENSMUSG00000020027
AA Change: E57*

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 null
Transcript: ENSMUST00000135822
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000118720
Gene: ENSMUSG00000020027
AA Change: E57*

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: ENSMUST00000172070
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000131875
Gene: ENSMUSG00000020027
AA Change: E57*

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: E10*

SMART Domains

Protein: ENSMUSP00000121305
Gene: ENSMUSG00000020027
AA Change: E10*

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

probably null
Transcript: ENSMUST00000170690
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000129331
Gene: ENSMUSG00000020027
AA Change: E57*

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: ENSMUST00000150432
AA Change: E57*

SMART Domains

Protein: ENSMUSP00000117785
Gene: ENSMUSG00000020027
AA Change: E57*

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

noncoding transcript
Transcript: ENSMUST00000145847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181781

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,473 (GRCm39)	I91K	probably damaging	Het
AAdacl4fm3	T	G	4: 144,441,961 (GRCm39)	T97P	probably damaging	Het
Adamts16	T	A	13: 70,946,154 (GRCm39)	M254L	probably benign	Het
Adgre5	T	C	8: 84,456,806 (GRCm39)	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,626,351 (GRCm39)		probably null	Het
Amz2	A	G	11: 109,324,850 (GRCm39)	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109 (GRCm39)	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103 (GRCm39)	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,952 (GRCm39)	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,950,807 (GRCm39)	T115A	probably benign	Het
Col5a1	T	C	2: 27,842,393 (GRCm39)	S423P	unknown	Het
Corin	A	T	5: 72,661,295 (GRCm39)	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,737,495 (GRCm39)	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,486,570 (GRCm39)	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,505,046 (GRCm39)	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,705,903 (GRCm39)	V219L	possibly damaging	Het
Dnah3	T	C	7: 119,689,169 (GRCm39)	M82V	probably benign	Het
Dnah9	A	G	11: 65,786,747 (GRCm39)	S3629P	probably damaging	Het
Fbrs	T	C	7: 127,086,883 (GRCm39)	L33P	probably damaging	Het
Fhip1b	A	G	7: 105,034,269 (GRCm39)	L454P	probably damaging	Het
Galnt11	T	A	5: 25,463,891 (GRCm39)	S388T	probably damaging	Het
Glmp	A	G	3: 88,235,426 (GRCm39)		probably benign	Het
Gm9894	A	G	13: 67,920,845 (GRCm39)		noncoding transcript	Het
Grik3	A	G	4: 125,584,985 (GRCm39)	M618V	probably benign	Het
Hmcn1	T	C	1: 150,620,778 (GRCm39)	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,443,378 (GRCm39)	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,580,925 (GRCm39)	I523V	probably benign	Het
Lmln	C	T	16: 32,937,500 (GRCm39)	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,110,680 (GRCm39)	T467A	probably damaging	Het
Map1s	T	A	8: 71,366,095 (GRCm39)	N333K	probably damaging	Het
Mgat4d	C	A	8: 84,092,340 (GRCm39)	A242D	probably damaging	Het
Muc5b	T	A	7: 141,417,261 (GRCm39)	Y3402*	probably null	Het
Myo3b	G	T	2: 70,111,562 (GRCm39)	A922S	probably benign	Het
Nphs1	T	C	7: 30,181,956 (GRCm39)	V1183A	probably benign	Het
Nup160	T	A	2: 90,509,843 (GRCm39)	C31S	probably benign	Het
Or4c58	T	C	2: 89,674,598 (GRCm39)	T240A	probably benign	Het
Or8k25	A	T	2: 86,244,035 (GRCm39)	Y120*	probably null	Het
Pcdhb5	T	G	18: 37,454,455 (GRCm39)	Y278*	probably null	Het
Pkhd1	T	A	1: 20,268,274 (GRCm39)	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,173,341 (GRCm39)	M676T	probably benign	Het
Plcb1	A	T	2: 135,179,361 (GRCm39)	N590Y	probably damaging	Het
Prr12	G	A	7: 44,699,018 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,901,666 (GRCm39)		probably null	Het
Ptpn9	T	G	9: 56,934,692 (GRCm39)	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,783,475 (GRCm39)	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,254,914 (GRCm39)	A568V	probably benign	Het
Smarcd3	T	G	5: 24,800,192 (GRCm39)	R213S	probably damaging	Het
Snx13	T	C	12: 35,136,895 (GRCm39)	Y119H	probably damaging	Het
Spred1	C	T	2: 117,005,828 (GRCm39)	P197S	probably benign	Het
Srek1	G	T	13: 103,880,112 (GRCm39)	P482Q	unknown	Het
Tapbp	A	G	17: 34,139,405 (GRCm39)	T134A	probably benign	Het
Tarbp1	T	C	8: 127,171,007 (GRCm39)	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,372,589 (GRCm39)		probably benign	Het
Tec	A	G	5: 72,939,448 (GRCm39)	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,647,422 (GRCm39)	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,256,902 (GRCm39)		probably benign	Het
Trpa1	A	G	1: 14,943,899 (GRCm39)	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,771,709 (GRCm39)		probably null	Het
Ttc21b	G	T	2: 66,056,379 (GRCm39)	T669K	probably benign	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Ubqln3	G	T	7: 103,792,067 (GRCm39)	L8I	possibly damaging	Het
Ung	C	A	5: 114,269,415 (GRCm39)	N42K	probably benign	Het
Upp1	T	C	11: 9,084,865 (GRCm39)	S195P	probably damaging	Het
Urb1	T	C	16: 90,557,340 (GRCm39)	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,579,904 (GRCm39)	K35E	probably damaging	Het
Vav3	A	T	3: 109,418,294 (GRCm39)	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,512,498 (GRCm39)	I140V	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,673,503 (GRCm39)	E187G	probably benign	Het
Zfc3h1	A	G	10: 115,226,827 (GRCm39)	T295A	probably benign	Het
Zfp268	A	T	4: 145,350,877 (GRCm39)		probably benign	Het
Zfp46	T	C	4: 136,017,823 (GRCm39)	L219P	probably damaging	Het
Zfp493	G	A	13: 67,931,999 (GRCm39)	V33M	probably damaging	Het
Zfp92	T	C	X: 72,463,466 (GRCm39)		probably benign	Het

Other mutations in Socs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATGAACCACACTGTCAAACTGTT -3'
(R):5'- GCCTTGGTAAACTTTAACTCACAGGCT -3'

Sequencing Primer
(F):5'- ACTCAATCCGCAGGTTAGTC -3'
(R):5'- ggaggtgagtgaagaagaacaag -3'

Posted On

2014-04-24