Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Bmpr1a'

194501

Institutional Source

Beutler Lab

Gene Symbol

Bmpr1a

Ensembl Gene

ENSMUSG00000021796

Gene Name

bone morphogenetic protein receptor, type 1A

Synonyms

1110037I22Rik, BMPR-IA, Bmpr, ALK3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34133018-34225335 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34169727 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000171551

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Cers3	A	G	7: 66,433,151 (GRCm39)	K156R	probably damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Uvrag	A	G	7: 98,748,601 (GRCm39)	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly 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
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'- AGGTGAATCTCAAGCTATGTATCGTGC -3'
(R):5'- TGATTTTGTTCTGTAAGGAAGCCTCCC -3'

Sequencing Primer
(F):5'- CTCAAGCTATGTATCGTGCCTAAG -3'
(R):5'- GTAAGGAAGCCTCCCTCATTC -3'

Posted On

2014-05-23