Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Bmpr2'

38558

Institutional Source

Beutler Lab

Gene Symbol

Bmpr2

Ensembl Gene

ENSMUSG00000067336

Gene Name

bone morphogenetic protein receptor type 2

Synonyms

BMPR-II, BMP-2, BMPRII, 2610024H22Rik

MMRRC Submission

038625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0423 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

59802721-59917240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59907669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 921 (T921A)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087435]

AlphaFold

O35607

Predicted Effect

probably benign
Transcript: ENSMUST00000087435
AA Change: T921A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: T921A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Activin_recp	33	131	6.9e-17	PFAM
low complexity region	132	142	N/A	INTRINSIC
transmembrane domain	152	174	N/A	INTRINSIC
Pfam:Pkinase	203	501	6.6e-33	PFAM
Pfam:Pkinase_Tyr	203	501	1.3e-29	PFAM
low complexity region	545	558	N/A	INTRINSIC
low complexity region	603	628	N/A	INTRINSIC
low complexity region	694	710	N/A	INTRINSIC
low complexity region	901	908	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type II receptor that binds extracellular BMPs and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important during embryonic development. Mutations in this gene can cause pulmonary hypertension. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,376,382 (GRCm39)	Y370H	probably damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Mettl13	A	T	1: 162,371,954 (GRCm39)	I305N	probably damaging	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or14c39	T	C	7: 86,344,434 (GRCm39)	Y257H	possibly damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Pygb	A	G	2: 150,665,904 (GRCm39)	K593E	probably benign	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rictor	A	T	15: 6,803,381 (GRCm39)	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	probably damaging	Het

Other mutations in Bmpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Bmpr2	APN	1	59,854,474 (GRCm39)	missense	possibly damaging	0.88
IGL01366:Bmpr2	APN	1	59,852,836 (GRCm39)	missense	probably damaging	1.00
IGL02281:Bmpr2	APN	1	59,907,503 (GRCm39)	missense	probably damaging	1.00
IGL02531:Bmpr2	APN	1	59,884,873 (GRCm39)	splice site	probably null
IGL03114:Bmpr2	APN	1	59,906,603 (GRCm39)	missense	probably damaging	1.00
R0114:Bmpr2	UTSW	1	59,854,499 (GRCm39)	missense	probably damaging	1.00
R0145:Bmpr2	UTSW	1	59,906,739 (GRCm39)	frame shift	probably null
R0480:Bmpr2	UTSW	1	59,884,818 (GRCm39)	missense	probably damaging	1.00
R0556:Bmpr2	UTSW	1	59,854,487 (GRCm39)	missense	probably damaging	1.00
R0597:Bmpr2	UTSW	1	59,880,584 (GRCm39)	splice site	probably benign
R1167:Bmpr2	UTSW	1	59,898,463 (GRCm39)	missense	probably damaging	1.00
R1537:Bmpr2	UTSW	1	59,907,285 (GRCm39)	missense	probably benign	0.31
R1769:Bmpr2	UTSW	1	59,907,520 (GRCm39)	missense	probably damaging	1.00
R1946:Bmpr2	UTSW	1	59,907,556 (GRCm39)	missense	possibly damaging	0.83
R1972:Bmpr2	UTSW	1	59,852,762 (GRCm39)	missense	possibly damaging	0.55
R4524:Bmpr2	UTSW	1	59,906,571 (GRCm39)	missense	probably benign	0.00
R4558:Bmpr2	UTSW	1	59,884,851 (GRCm39)	missense	probably damaging	0.99
R4667:Bmpr2	UTSW	1	59,906,875 (GRCm39)	missense	probably damaging	1.00
R4668:Bmpr2	UTSW	1	59,906,875 (GRCm39)	missense	probably damaging	1.00
R4669:Bmpr2	UTSW	1	59,906,875 (GRCm39)	missense	probably damaging	1.00
R4868:Bmpr2	UTSW	1	59,909,615 (GRCm39)	missense	probably benign	0.03
R4922:Bmpr2	UTSW	1	59,906,583 (GRCm39)	missense	probably benign
R5015:Bmpr2	UTSW	1	59,890,383 (GRCm39)	missense	probably damaging	1.00
R5421:Bmpr2	UTSW	1	59,909,577 (GRCm39)	missense	possibly damaging	0.96
R5808:Bmpr2	UTSW	1	59,906,560 (GRCm39)	missense	probably benign	0.09
R6057:Bmpr2	UTSW	1	59,881,977 (GRCm39)	missense	probably benign	0.00
R6228:Bmpr2	UTSW	1	59,906,595 (GRCm39)	missense	probably benign	0.11
R6449:Bmpr2	UTSW	1	59,906,596 (GRCm39)	missense	probably damaging	0.99
R6475:Bmpr2	UTSW	1	59,907,503 (GRCm39)	missense	probably damaging	1.00
R6754:Bmpr2	UTSW	1	59,909,439 (GRCm39)	missense	probably damaging	1.00
R7080:Bmpr2	UTSW	1	59,906,842 (GRCm39)	missense	probably benign	0.00
R7410:Bmpr2	UTSW	1	59,907,652 (GRCm39)	missense	probably benign
R7425:Bmpr2	UTSW	1	59,906,510 (GRCm39)	missense	probably benign	0.12
R8027:Bmpr2	UTSW	1	59,906,962 (GRCm39)	missense	probably damaging	1.00
R8032:Bmpr2	UTSW	1	59,906,502 (GRCm39)	missense	probably benign	0.03
R8117:Bmpr2	UTSW	1	59,886,252 (GRCm39)	missense	probably damaging	0.99
R8142:Bmpr2	UTSW	1	59,909,465 (GRCm39)	missense	probably damaging	1.00
R8166:Bmpr2	UTSW	1	59,906,740 (GRCm39)	missense	probably damaging	0.98
R8376:Bmpr2	UTSW	1	59,906,515 (GRCm39)	missense	probably damaging	0.99
R8419:Bmpr2	UTSW	1	59,906,515 (GRCm39)	missense	probably damaging	0.99
R8770:Bmpr2	UTSW	1	59,884,684 (GRCm39)	missense	probably benign	0.00
R8949:Bmpr2	UTSW	1	59,906,860 (GRCm39)	missense	possibly damaging	0.52
R9016:Bmpr2	UTSW	1	59,854,460 (GRCm39)	missense	probably damaging	0.99
R9296:Bmpr2	UTSW	1	59,906,502 (GRCm39)	missense	probably damaging	0.97
R9469:Bmpr2	UTSW	1	59,881,928 (GRCm39)	missense	probably benign
R9773:Bmpr2	UTSW	1	59,907,497 (GRCm39)	missense	probably damaging	1.00
Z1176:Bmpr2	UTSW	1	59,886,326 (GRCm39)	missense	not run
Z1177:Bmpr2	UTSW	1	59,886,326 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCACATAGGTCCCAAGAAATGCTGC -3'
(R):5'- TCCAAGGTCCAGTCACGTTGTCTC -3'

Sequencing Primer
(F):5'- GGCTGAATATCAATTCCAGTCCTG -3'
(R):5'- CAGTCACGTTGTCTCTGGAAG -3'

Posted On

2013-05-23