Mutagenetix > Incidental Mutation

Incidental Mutation 'R0537:Bmpr1a'

49516

Institutional Source

Beutler Lab

Gene Symbol

Bmpr1a

Ensembl Gene

ENSMUSG00000021796

Gene Name

bone morphogenetic protein receptor, type 1A

Synonyms

1110037I22Rik, BMPR-IA, Bmpr, ALK3

MMRRC Submission

038729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34133018-34225335 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 34165769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280] [ENSMUST00000171343] [ENSMUST00000171551]

AlphaFold

P36895

Predicted Effect

probably benign
Transcript: ENSMUST00000049005

SMART Domains

Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	59	138	4.6e-14	PFAM
transmembrane domain	153	175	N/A	INTRINSIC
GS	204	234	7.44e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165280

SMART Domains

Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	59	138	1.3e-14	PFAM
transmembrane domain	153	175	N/A	INTRINSIC
GS	204	234	7.44e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171343

SMART Domains

Protein: ENSMUSP00000126852
Gene: ENSMUSG00000021796

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	59	138	2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171551

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	T	14: 35,818,657 (GRCm39)	K218N	probably benign	Het
Acot11	T	C	4: 106,619,652 (GRCm39)	E156G	probably benign	Het
Arhgef28	A	T	13: 98,094,224 (GRCm39)	N973K	probably damaging	Het
B4galt3	T	C	1: 171,101,821 (GRCm39)		probably benign	Het
Camkmt	A	T	17: 85,702,087 (GRCm39)	I184F	probably benign	Het
Ccdc33	T	C	9: 58,024,737 (GRCm39)	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,014,701 (GRCm39)		probably benign	Het
Dars2	A	T	1: 160,888,318 (GRCm39)	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,312,767 (GRCm39)	S194R	possibly damaging	Het
Dock8	A	G	19: 25,148,941 (GRCm39)	D1473G	probably benign	Het
Dpm2	T	A	2: 32,462,961 (GRCm39)		probably null	Het
Dsg4	T	C	18: 20,591,628 (GRCm39)	S456P	probably damaging	Het
Gys1	T	C	7: 45,089,425 (GRCm39)	S195P	probably damaging	Het
Heatr6	G	T	11: 83,670,290 (GRCm39)	E948*	probably null	Het
Itgal	G	A	7: 126,910,445 (GRCm39)	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,326,422 (GRCm39)	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lrrtm4	A	T	6: 79,999,103 (GRCm39)	T172S	probably benign	Het
Lypd1	A	G	1: 125,840,604 (GRCm39)		probably benign	Het
Mei1	T	C	15: 81,975,562 (GRCm39)	F121S	possibly damaging	Het
Mtor	C	T	4: 148,622,817 (GRCm39)	R1966W	probably damaging	Het
Myh7	A	G	14: 55,228,256 (GRCm39)	F247L	possibly damaging	Het
Nebl	G	T	2: 17,409,026 (GRCm39)	D392E	possibly damaging	Het
Notch2	C	A	3: 98,024,057 (GRCm39)	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,240,678 (GRCm39)		probably benign	Het
Or5w16	A	T	2: 87,577,017 (GRCm39)	Q159L	probably benign	Het
Or7g19	T	C	9: 18,856,444 (GRCm39)	S167P	probably damaging	Het
Pcdh17	T	A	14: 84,684,897 (GRCm39)	S455T	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pold1	T	C	7: 44,184,516 (GRCm39)	E828G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rala	A	T	13: 18,063,233 (GRCm39)	N119K	probably benign	Het
Rasal2	A	T	1: 156,975,362 (GRCm39)	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,715,501 (GRCm39)	Y92C	probably damaging	Het
Rps18-ps6	A	T	13: 97,897,071 (GRCm39)	F9Y	probably benign	Het
Sart1	A	T	19: 5,431,752 (GRCm39)	D635E	probably damaging	Het
Sec16b	A	G	1: 157,365,116 (GRCm39)	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,303,679 (GRCm39)	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,540,967 (GRCm39)	R274H	probably damaging	Het
Spag17	T	C	3: 100,032,618 (GRCm39)	V2276A	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tenm2	T	C	11: 36,054,557 (GRCm39)	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,360 (GRCm39)	C2F	probably damaging	Het
Tmem80	A	G	7: 140,913,609 (GRCm39)	Y13C	probably damaging	Het
Try4	T	A	6: 41,281,296 (GRCm39)	N79K	probably benign	Het
Vldlr	C	A	19: 27,225,318 (GRCm39)	N798K	probably damaging	Het
Wdr41	A	G	13: 95,131,813 (GRCm39)		probably benign	Het
Zfp30	A	T	7: 29,492,160 (GRCm39)	E138V	probably damaging	Het
Zfp366	A	C	13: 99,365,786 (GRCm39)	T316P	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het
Znfx1	T	C	2: 166,883,621 (GRCm39)	H162R	probably damaging	Het

Other mutations in Bmpr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Bmpr1a	APN	14	34,156,376 (GRCm39)	missense	probably benign
IGL03100:Bmpr1a	APN	14	34,163,164 (GRCm39)	unclassified	probably benign
R0329:Bmpr1a	UTSW	14	34,151,734 (GRCm39)	missense	probably benign	0.03
R0330:Bmpr1a	UTSW	14	34,151,734 (GRCm39)	missense	probably benign	0.03
R0411:Bmpr1a	UTSW	14	34,137,834 (GRCm39)	missense	possibly damaging	0.58
R1707:Bmpr1a	UTSW	14	34,147,098 (GRCm39)	splice site	probably benign
R1767:Bmpr1a	UTSW	14	34,169,727 (GRCm39)	critical splice donor site	probably null
R1992:Bmpr1a	UTSW	14	34,147,050 (GRCm39)	missense	probably damaging	1.00
R3757:Bmpr1a	UTSW	14	34,156,624 (GRCm39)	nonsense	probably null
R4125:Bmpr1a	UTSW	14	34,156,690 (GRCm39)	missense	probably benign	0.35
R5320:Bmpr1a	UTSW	14	34,146,999 (GRCm39)	missense	probably damaging	1.00
R6956:Bmpr1a	UTSW	14	34,163,132 (GRCm39)	missense	possibly damaging	0.90
R7254:Bmpr1a	UTSW	14	34,136,720 (GRCm39)	missense	probably benign	0.03
R7267:Bmpr1a	UTSW	14	34,165,836 (GRCm39)	missense	possibly damaging	0.47
R7270:Bmpr1a	UTSW	14	34,163,082 (GRCm39)	missense	probably damaging	0.96
R8166:Bmpr1a	UTSW	14	34,147,026 (GRCm39)	missense	probably damaging	1.00
R8348:Bmpr1a	UTSW	14	34,136,759 (GRCm39)	missense	probably benign	0.24
R8448:Bmpr1a	UTSW	14	34,136,759 (GRCm39)	missense	probably benign	0.24
R8948:Bmpr1a	UTSW	14	34,163,148 (GRCm39)	missense	possibly damaging	0.69
R8950:Bmpr1a	UTSW	14	34,163,148 (GRCm39)	missense	possibly damaging	0.69
R9246:Bmpr1a	UTSW	14	34,156,664 (GRCm39)	missense	probably benign	0.00
R9362:Bmpr1a	UTSW	14	34,156,360 (GRCm39)	missense	probably benign	0.01
R9647:Bmpr1a	UTSW	14	34,136,694 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTATCTACCCTCTGCTCTAACTGGCTAA -3'
(R):5'- CATCCTCAAAAGTTCTCCGGTGCTTA -3'

Sequencing Primer
(F):5'- tgcatacctttaatcctagcactc -3'
(R):5'- AGCCCTTAGCCTTTAGGGAGAG -3'

Posted On

2013-06-12