Mutagenetix > Incidental Mutation

Incidental Mutation 'R2132:Smad2'

233462

Institutional Source

Beutler Lab

Gene Symbol

Smad2

Ensembl Gene

ENSMUSG00000024563

Gene Name

SMAD family member 2

Synonyms

Madr2, Madh2, Smad 2, 7120426M23Rik

MMRRC Submission

040135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76374651-76444034 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 76421155 bp (GRCm39)

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]

AlphaFold

Q62432

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: 88,112,335 (GRCm39)		probably benign	Het
4930562C15Rik	A	C	16: 4,653,835 (GRCm39)	Q128P	unknown	Het
Abcc3	T	A	11: 94,258,426 (GRCm39)	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adgrg7	C	A	16: 56,588,281 (GRCm39)	A199S	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,215,587 (GRCm39)		probably benign	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
B3gnt3	G	A	8: 72,145,971 (GRCm39)	T186M	probably damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc157	A	T	11: 4,100,004 (GRCm39)	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,384,151 (GRCm39)	T408I	probably benign	Het
Celf1	G	T	2: 90,840,791 (GRCm39)	G353W	probably damaging	Het
Celsr1	T	A	15: 85,916,168 (GRCm39)	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,021,226 (GRCm39)	V191M	probably damaging	Het
Cenpn	G	A	8: 117,661,536 (GRCm39)		probably null	Het
Cfap65	A	C	1: 74,946,850 (GRCm39)	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,205,891 (GRCm39)	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,245,584 (GRCm39)	E100V	probably damaging	Het
Col4a4	G	A	1: 82,475,581 (GRCm39)	R583C	unknown	Het
Commd7	A	C	2: 153,463,586 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,320,899 (GRCm39)	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,348,588 (GRCm39)	S325R	probably damaging	Het
Dclk2	T	C	3: 86,827,353 (GRCm39)	N42S	probably benign	Het
Dmrta1	A	T	4: 89,576,946 (GRCm39)	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,526,800 (GRCm39)	I426L	probably benign	Het
Dnah17	G	A	11: 117,924,573 (GRCm39)	L3999F	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Dsg1a	T	A	18: 20,473,854 (GRCm39)	S976T	probably damaging	Het
Dstyk	T	A	1: 132,377,222 (GRCm39)	M29K	probably null	Het
Eif3i	A	T	4: 129,490,719 (GRCm39)	H18Q	probably benign	Het
Epm2a	A	G	10: 11,219,426 (GRCm39)	E71G	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Faf1	A	G	4: 109,568,042 (GRCm39)	N34S	probably damaging	Het
Fat3	A	G	9: 16,158,015 (GRCm39)		probably null	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fcgbpl1	C	T	7: 27,854,899 (GRCm39)	P1842S	probably damaging	Het
Fkbp15	C	A	4: 62,246,136 (GRCm39)	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376 (GRCm38)	D224A	probably benign	Het
Flnc	G	A	6: 29,443,675 (GRCm39)	V566M	probably damaging	Het
Gli3	T	A	13: 15,900,134 (GRCm39)	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,726,321 (GRCm39)	V93E	probably damaging	Het
Glrx2	T	C	1: 143,620,842 (GRCm39)	S74P	possibly damaging	Het
Gm5422	G	A	10: 31,124,929 (GRCm39)		noncoding transcript	Het
Gpi1	T	C	7: 33,905,339 (GRCm39)	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Gxylt1	A	G	15: 93,142,851 (GRCm39)	*405R	probably null	Het
Heyl	T	C	4: 123,139,876 (GRCm39)	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,277,949 (GRCm39)	E92D	probably damaging	Het
Ifi207	A	G	1: 173,557,337 (GRCm39)	F467S	possibly damaging	Het
Ift70b	G	T	2: 75,767,129 (GRCm39)	H541Q	probably damaging	Het
Igf2r	A	T	17: 12,941,095 (GRCm39)	I462N	probably benign	Het
Inpp5b	A	T	4: 124,678,961 (GRCm39)		probably benign	Het
Kansl2	A	G	15: 98,427,278 (GRCm39)	I201T	probably damaging	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kcnu1	T	A	8: 26,341,928 (GRCm39)	I91N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Klrc3	T	A	6: 129,618,501 (GRCm39)	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,284,113 (GRCm39)	T489S	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Magi1	T	C	6: 93,674,255 (GRCm39)	E951G	probably damaging	Het
Mcm7	T	C	5: 138,167,364 (GRCm39)	Q86R	probably damaging	Het
Med12l	G	T	3: 59,172,703 (GRCm39)		probably null	Het
Morc2a	A	G	11: 3,629,787 (GRCm39)	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,916,161 (GRCm39)	C486R	probably benign	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,650,618 (GRCm39)	H1616N	probably benign	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,183,702 (GRCm39)	E777G	probably damaging	Het
Nid1	A	G	13: 13,684,071 (GRCm39)	H1186R	probably benign	Het
Nppb	T	A	4: 148,070,454 (GRCm39)	S8T	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1ak2	A	G	2: 36,827,704 (GRCm39)	N191S	probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or5al5	A	G	2: 85,961,605 (GRCm39)	V134A	possibly damaging	Het
Or5b99	T	A	19: 12,976,402 (GRCm39)	D17E	probably benign	Het
Or6f1	C	T	7: 85,970,687 (GRCm39)	V158M	possibly damaging	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pate6	T	G	9: 35,701,039 (GRCm39)		probably benign	Het
Pdlim4	A	G	11: 53,954,563 (GRCm39)	L48S	possibly damaging	Het
Phactr3	T	C	2: 177,925,759 (GRCm39)	F345L	probably benign	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Prcp	T	A	7: 92,550,488 (GRCm39)	V95D	probably benign	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Ror1	A	G	4: 100,267,222 (GRCm39)	N308D	probably benign	Het
Sdccag8	C	A	1: 176,783,455 (GRCm39)	Q655K	probably damaging	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Skap1	T	C	11: 96,355,559 (GRCm39)	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Spata31d1a	G	T	13: 59,848,857 (GRCm39)	D1090E	probably damaging	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Terf1	A	G	1: 15,875,909 (GRCm39)	E3G	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,171,577 (GRCm39)		probably null	Het
Tor1aip1	A	C	1: 155,883,308 (GRCm39)	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,467,205 (GRCm39)	Q478L	probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttc39a	A	G	4: 109,299,903 (GRCm39)	Y464C	probably damaging	Het
Unc5a	A	G	13: 55,138,896 (GRCm39)	S92G	probably damaging	Het
Unc5d	A	C	8: 29,365,557 (GRCm39)	S143A	possibly damaging	Het
Usp34	A	T	11: 23,414,556 (GRCm39)	H2833L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr17	T	G	8: 55,125,541 (GRCm39)	K446N	probably damaging	Het
Xirp2	A	T	2: 67,338,392 (GRCm39)	Q211L	possibly damaging	Het
Xkr7	G	A	2: 152,894,816 (GRCm39)	R256Q	probably benign	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp268	T	A	4: 145,350,803 (GRCm39)		probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp747l1	T	C	7: 126,986,107 (GRCm39)	D8G	probably benign	Het
Zfp758	A	G	17: 22,594,951 (GRCm39)	H479R	probably damaging	Het
Zfp827	A	G	8: 79,912,350 (GRCm39)	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het

Other mutations in Smad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Smad2	APN	18	76,431,566 (GRCm39)	missense	possibly damaging	0.94
IGL00978:Smad2	APN	18	76,432,846 (GRCm39)	splice site	probably benign
IGL01295:Smad2	APN	18	76,435,501 (GRCm39)	missense	probably benign	0.05
IGL01887:Smad2	APN	18	76,432,965 (GRCm39)	missense	probably damaging	1.00
IGL01960:Smad2	APN	18	76,395,555 (GRCm39)	intron	probably benign
IGL02881:Smad2	APN	18	76,432,851 (GRCm39)	splice site	probably null
IGL02977:Smad2	APN	18	76,422,235 (GRCm39)	missense	possibly damaging	0.64
R0333:Smad2	UTSW	18	76,395,692 (GRCm39)	missense	probably damaging	1.00
R0391:Smad2	UTSW	18	76,422,108 (GRCm39)	critical splice acceptor site	probably null
R0523:Smad2	UTSW	18	76,395,623 (GRCm39)	missense	probably benign
R0570:Smad2	UTSW	18	76,422,250 (GRCm39)	splice site	probably benign
R0624:Smad2	UTSW	18	76,433,064 (GRCm39)	missense	probably damaging	1.00
R1573:Smad2	UTSW	18	76,395,657 (GRCm39)	missense	possibly damaging	0.89
R1953:Smad2	UTSW	18	76,395,776 (GRCm39)	missense	possibly damaging	0.90
R2213:Smad2	UTSW	18	76,437,697 (GRCm39)	missense	probably damaging	1.00
R3021:Smad2	UTSW	18	76,395,703 (GRCm39)	missense	probably damaging	1.00
R3917:Smad2	UTSW	18	76,421,008 (GRCm39)	missense	probably benign	0.42
R4503:Smad2	UTSW	18	76,435,663 (GRCm39)	missense	probably benign	0.23
R5253:Smad2	UTSW	18	76,421,124 (GRCm39)	missense	probably damaging	1.00
R5290:Smad2	UTSW	18	76,395,795 (GRCm39)	missense	probably damaging	1.00
R5891:Smad2	UTSW	18	76,433,046 (GRCm39)	missense	probably damaging	1.00
R6294:Smad2	UTSW	18	76,422,233 (GRCm39)	missense	probably benign	0.31
R6879:Smad2	UTSW	18	76,395,725 (GRCm39)	missense	possibly damaging	0.49
R7430:Smad2	UTSW	18	76,421,151 (GRCm39)	missense	probably damaging	1.00
R7503:Smad2	UTSW	18	76,419,956 (GRCm39)	missense	probably benign
R7757:Smad2	UTSW	18	76,421,084 (GRCm39)	missense	probably benign	0.40
R8072:Smad2	UTSW	18	76,420,022 (GRCm39)	critical splice donor site	probably null
R9132:Smad2	UTSW	18	76,395,573 (GRCm39)	missense	possibly damaging	0.87
R9159:Smad2	UTSW	18	76,395,573 (GRCm39)	missense	possibly damaging	0.87
R9184:Smad2	UTSW	18	76,422,171 (GRCm39)	missense	probably benign	0.00
Z1177:Smad2	UTSW	18	76,421,074 (GRCm39)	missense	probably damaging	1.00
Z1177:Smad2	UTSW	18	76,421,073 (GRCm39)	missense	probably damaging	1.00

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