Mutagenetix > Incidental Mutations

Incidental Mutation 'R2132:Smad2'

233462

Institutional Source

Beutler Lab

Gene Symbol

Smad2

Ensembl Gene

ENSMUSG00000024563

Gene Name

SMAD family member 2

Synonyms

Smad 2, Madr2, 7120426M23Rik, Madh2

MMRRC Submission

040135-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76241580-76305731 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 76288084 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 161 (C161*)

Ref Sequence

ENSEMBL: ENSMUSP00000125883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025453] [ENSMUST00000091831] [ENSMUST00000113930] [ENSMUST00000165084] [ENSMUST00000168423] [ENSMUST00000171256] [ENSMUST00000172198]

Predicted Effect

probably null
Transcript: ENSMUST00000025453
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000025453
Gene: ENSMUSG00000024563
AA Change: C161*

Domain	Start	End	E-Value	Type
DWA	36	174	1e-64	SMART
Blast:DWB	230	261	2e-10	BLAST
DWB	272	443	2.25e-108	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091831
AA Change: C131*

SMART Domains

Protein: ENSMUSP00000089439
Gene: ENSMUSG00000024563
AA Change: C131*

Domain	Start	End	E-Value	Type
DWA	36	144	1.68e-66	SMART
Blast:DWB	200	231	1e-10	BLAST
DWB	242	413	2.25e-108	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113930
AA Change: C131*

SMART Domains

Protein: ENSMUSP00000109563
Gene: ENSMUSG00000024563
AA Change: C131*

Domain	Start	End	E-Value	Type
DWA	36	144	1.68e-66	SMART
Blast:DWB	200	231	9e-11	BLAST
DWB	242	408	4.38e-88	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165084
AA Change: C131*

SMART Domains

Protein: ENSMUSP00000132851
Gene: ENSMUSG00000024563
AA Change: C131*

Domain	Start	End	E-Value	Type
DWA	36	144	7.85e-67	SMART
PDB:1KHX\|A	166	204	3e-19	PDB
SCOP:d1khxa_	190	204	7e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168423
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000130115
Gene: ENSMUSG00000024563
AA Change: C161*

Domain	Start	End	E-Value	Type
DWA	36	174	1e-64	SMART
Blast:DWB	230	261	2e-10	BLAST
DWB	272	443	2.25e-108	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171256
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000125883
Gene: ENSMUSG00000024563
AA Change: C161*

Domain	Start	End	E-Value	Type
DWA	36	174	1e-64	SMART
Blast:DWA	182	213	3e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172198

SMART Domains

Protein: ENSMUSP00000129232
Gene: ENSMUSG00000024563

Domain	Start	End	E-Value	Type
Pfam:MH2	28	58	1.8e-10	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutant embryos die at day 6.5-8.5 with multiple defects, including failed gastrulation, lack of mesoderm, visceral endoderm dysfunction and failure to form anterior-posterior axis. Heterozygotes may show gastrulation defects and lack mandible or eyes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 87,964,476		probably benign	Het
4930562C15Rik	A	C	16: 4,835,971	Q128P	unknown	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
9130019O22Rik	T	C	7: 127,386,935	D8G	probably benign	Het
9530053A07Rik	C	T	7: 28,155,474	P1842S	probably damaging	Het
Abcc3	T	A	11: 94,367,600	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adgrg7	C	A	16: 56,767,918	A199S	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,324,761		probably benign	Het
Atat1	A	G	17: 35,909,439	S54P	probably damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
B3gnt3	G	A	8: 71,693,327	T186M	probably damaging	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc157	A	T	11: 4,150,004	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,434,151	T408I	probably benign	Het
Celf1	G	T	2: 91,010,446	G353W	probably damaging	Het
Celsr1	T	A	15: 86,031,967	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,179,306	V191M	probably damaging	Het
Cenpn	G	A	8: 116,934,797		probably null	Het
Cfap65	A	C	1: 74,907,691	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,069,383	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,451,935	E100V	probably damaging	Het
Col4a4	G	A	1: 82,497,860	R583C	unknown	Het
Commd7	A	C	2: 153,621,666		probably benign	Het
Csmd3	T	C	15: 48,457,503	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,491,391	S325R	probably damaging	Het
D730048I06Rik	T	G	9: 35,789,743		probably benign	Het
Dclk2	T	C	3: 86,920,046	N42S	probably benign	Het
Dmrta1	A	T	4: 89,688,709	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,523,801	I426L	probably benign	Het
Dnah17	G	A	11: 118,033,747	L3999F	probably damaging	Het
Dock6	A	G	9: 21,846,518	S97P	probably benign	Het
Dsg1a	T	A	18: 20,340,797	S976T	probably damaging	Het
Dstyk	T	A	1: 132,449,484	M29K	probably null	Het
Eif3i	A	T	4: 129,596,926	H18Q	probably benign	Het
Epm2a	A	G	10: 11,343,682	E71G	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Faf1	A	G	4: 109,710,845	N34S	probably damaging	Het
Fat3	A	G	9: 16,246,719		probably null	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fkbp15	C	A	4: 62,327,899	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376	D224A	probably benign	Het
Flnc	G	A	6: 29,443,676	V566M	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gli3	T	A	13: 15,725,549	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,578,455	V93E	probably damaging	Het
Glrx2	T	C	1: 143,745,104	S74P	possibly damaging	Het
Gm13212	T	A	4: 145,624,233		probably benign	Het
Gm5422	G	A	10: 31,248,933		noncoding transcript	Het
Gpi1	T	C	7: 34,205,914	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Gxylt1	A	G	15: 93,244,970	*405R	probably null	Het
Heyl	T	C	4: 123,246,083	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,311,690	E92D	probably damaging	Het
Ifi207	A	G	1: 173,729,771	F467S	possibly damaging	Het
Igf2r	A	T	17: 12,722,208	I462N	probably benign	Het
Inpp5b	A	T	4: 124,785,168		probably benign	Het
Kansl2	A	G	15: 98,529,397	I201T	probably damaging	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kcnu1	T	A	8: 25,851,900	I91N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Klrc3	T	A	6: 129,641,538	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,393,287	T489S	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Magi1	T	C	6: 93,697,274	E951G	probably damaging	Het
Mcm7	T	C	5: 138,169,102	Q86R	probably damaging	Het
Med12l	G	T	3: 59,265,282		probably null	Het
Morc2a	A	G	11: 3,679,787	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,678,704	C486R	probably benign	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,343,623	H1616N	probably benign	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myh8	A	G	11: 67,292,876	E777G	probably damaging	Het
Nid1	A	G	13: 13,509,486	H1186R	probably benign	Het
Nppb	T	A	4: 147,985,997	S8T	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr1039	A	G	2: 86,131,261	V134A	possibly damaging	Het
Olfr1451	T	A	19: 12,999,038	D17E	probably benign	Het
Olfr308	C	T	7: 86,321,479	V158M	possibly damaging	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr356	A	G	2: 36,937,692	N191S	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pdlim4	A	G	11: 54,063,737	L48S	possibly damaging	Het
Phactr3	T	C	2: 178,283,966	F345L	probably benign	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Prcp	T	A	7: 92,901,280	V95D	probably benign	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Ror1	A	G	4: 100,410,025	N308D	probably benign	Het
Sdccag8	C	A	1: 176,955,889	Q655K	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Skap1	T	C	11: 96,464,733	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Spata31d1a	G	T	13: 59,701,043	D1090E	probably damaging	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Terf1	A	G	1: 15,805,685	E3G	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,617,840		probably null	Het
Tor1aip1	A	C	1: 156,007,562	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,610,008	Q478L	probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Ttc30b	G	T	2: 75,936,785	H541Q	probably damaging	Het
Ttc39a	A	G	4: 109,442,706	Y464C	probably damaging	Het
Unc5a	A	G	13: 54,991,083	S92G	probably damaging	Het
Unc5d	A	C	8: 28,875,529	S143A	possibly damaging	Het
Usp34	A	T	11: 23,464,556	H2833L	possibly damaging	Het
Wdr17	T	G	8: 54,672,506	K446N	probably damaging	Het
Xirp2	A	T	2: 67,508,048	Q211L	possibly damaging	Het
Xkr7	G	A	2: 153,052,896	R256Q	probably benign	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp758	A	G	17: 22,375,970	H479R	probably damaging	Het
Zfp827	A	G	8: 79,185,721	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Smad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Smad2	APN	18	76298495	missense	possibly damaging	0.94
IGL00978:Smad2	APN	18	76299775	splice site	probably benign
IGL01295:Smad2	APN	18	76302430	missense	probably benign	0.05
IGL01887:Smad2	APN	18	76299894	missense	probably damaging	1.00
IGL01960:Smad2	APN	18	76262484	intron	probably benign
IGL02881:Smad2	APN	18	76299780	splice site	probably null
IGL02977:Smad2	APN	18	76289164	missense	possibly damaging	0.64
R0333:Smad2	UTSW	18	76262621	missense	probably damaging	1.00
R0391:Smad2	UTSW	18	76289037	critical splice acceptor site	probably null
R0523:Smad2	UTSW	18	76262552	missense	probably benign
R0570:Smad2	UTSW	18	76289179	splice site	probably benign
R0624:Smad2	UTSW	18	76299993	missense	probably damaging	1.00
R1573:Smad2	UTSW	18	76262586	missense	possibly damaging	0.89
R1953:Smad2	UTSW	18	76262705	missense	possibly damaging	0.90
R2213:Smad2	UTSW	18	76304626	missense	probably damaging	1.00
R3021:Smad2	UTSW	18	76262632	missense	probably damaging	1.00
R3917:Smad2	UTSW	18	76287937	missense	probably benign	0.42
R4503:Smad2	UTSW	18	76302592	missense	probably benign	0.23
R5253:Smad2	UTSW	18	76288053	missense	probably damaging	1.00
R5290:Smad2	UTSW	18	76262724	missense	probably damaging	1.00
R5891:Smad2	UTSW	18	76299975	missense	probably damaging	1.00
R6294:Smad2	UTSW	18	76289162	missense	probably benign	0.31
R6879:Smad2	UTSW	18	76262654	missense	possibly damaging	0.49
R7430:Smad2	UTSW	18	76288080	missense	probably damaging	1.00
R7503:Smad2	UTSW	18	76286885	missense	probably benign
R7757:Smad2	UTSW	18	76288013	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGGCTCTCCTTTTAAAAGTGCTC -3'
(R):5'- ACTAAGTAAGCTCCCAGAAGTGG -3'

Sequencing Primer
(F):5'- ATATATTGCCGGCTCTGG -3'
(R):5'- GGACGTGTCCCTTTTCTAAGATAC -3'

Posted On

2014-10-01