Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Bmpr1a'

564159

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

045315-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34133018-34225335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34136720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 490 (D490E)

Ref Sequence

ENSEMBL: ENSMUSP00000035900 (fasta)

Gene Model

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

AlphaFold

P36895

Predicted Effect

probably benign
Transcript: ENSMUST00000049005
AA Change: D490E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: D490E

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
AA Change: D490E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: D490E

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

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	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
R0537:Bmpr1a	UTSW	14	34,165,769 (GRCm39)	unclassified	probably benign
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
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'- CAAGTGTCTTCTTGATTCTCAAAGC -3'
(R):5'- TCCACAATTCAGTGAGAAATGCTG -3'

Sequencing Primer
(F):5'- CTTGATTCTCAAAGCTGTGAGTC -3'
(R):5'- CTGTATGTCAACTGAGAGTAGTCC -3'

Posted On

2019-06-26