Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Smad2'

31738

Institutional Source

Beutler Lab

Gene Symbol

Smad2

Ensembl Gene

ENSMUSG00000024563

Gene Name

SMAD family member 2

Synonyms

Madr2, Madh2, Smad 2, 7120426M23Rik

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76374651-76444034 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 76422108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129232 (fasta)

Gene Model

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

AlphaFold

Q62432

Predicted Effect

probably null
Transcript: ENSMUST00000025453

SMART Domains

Protein: ENSMUSP00000025453
Gene: ENSMUSG00000024563

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: ENSMUST00000025453

SMART Domains

Protein: ENSMUSP00000025453
Gene: ENSMUSG00000024563

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

SMART Domains

Protein: ENSMUSP00000089439
Gene: ENSMUSG00000024563

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: ENSMUST00000091831

SMART Domains

Protein: ENSMUSP00000089439
Gene: ENSMUSG00000024563

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

SMART Domains

Protein: ENSMUSP00000109563
Gene: ENSMUSG00000024563

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: ENSMUST00000113930

SMART Domains

Protein: ENSMUSP00000109563
Gene: ENSMUSG00000024563

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 benign
Transcript: ENSMUST00000165084

SMART Domains

Protein: ENSMUSP00000132851
Gene: ENSMUSG00000024563

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

SMART Domains

Protein: ENSMUSP00000130115
Gene: ENSMUSG00000024563

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: ENSMUST00000168423

SMART Domains

Protein: ENSMUSP00000130115
Gene: ENSMUSG00000024563

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

SMART Domains

Protein: ENSMUSP00000125883
Gene: ENSMUSG00000024563

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

Predicted Effect

probably null
Transcript: ENSMUST00000171256

SMART Domains

Protein: ENSMUSP00000125883
Gene: ENSMUSG00000024563

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

Predicted Effect

probably null
Transcript: ENSMUST00000172198

SMART Domains

Protein: ENSMUSP00000129232
Gene: ENSMUSG00000024563

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

Predicted Effect

probably null
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

0.9504

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,733,903 (GRCm39)	H378R	possibly damaging	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,162,428 (GRCm39)	V970A	possibly damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mpp4	A	T	1: 59,182,988 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm39)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Stil	A	G	4: 114,898,369 (GRCm39)		probably null	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	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
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
R2132:Smad2	UTSW	18	76,421,155 (GRCm39)	nonsense	probably null
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'- ATTTGACAGGGTCACATTGTTCTCCAA -3'
(R):5'- AACCACATTACTAACACCTGGGCATTT -3'

Sequencing Primer
(F):5'- TAGGTGTGGCCAGACTGAAA -3'
(R):5'- ACTAACACCTGGGCATTTGTTAC -3'

Posted On

2013-04-24