Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Bmpr2'

101066

Institutional Source

Beutler Lab

Gene Symbol

Bmpr2

Ensembl Gene

ENSMUSG00000067336

Gene Name

bone morphogenetic protein receptor, type II (serine/threonine kinase)

Synonyms

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

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59763400-59879014 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59859304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 470 (S470C)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

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

AlphaFold

O35607

Predicted Effect

probably damaging
Transcript: ENSMUST00000087435
AA Change: S470C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: S470C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186246

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,579	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307		probably null	Het
Bfar	A	G	16: 13,698,894	K202E	possibly damaging	Het
Cep135	A	G	5: 76,624,637	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788		probably null	Het
Clptm1	A	T	7: 19,634,211	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781		probably null	Het
Dst	A	G	1: 34,223,858	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455	V10A	probably damaging	Het
Ermp1	A	G	19: 29,628,679	S225P	possibly damaging	Het
Fes	A	T	7: 80,383,109	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm4884	A	T	7: 41,043,912	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380		probably benign	Het
Gm8882	G	A	6: 132,361,590	P222S	unknown	Het
Ift140	T	G	17: 25,035,745	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073		probably null	Het
Rab1a	C	A	11: 20,223,172	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705		probably null	Het
Rtkn2	T	C	10: 67,997,620	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779	L783*	probably null	Het
Zer1	C	T	2: 30,108,246	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979	H425Y	probably damaging	Het

Other mutations in Bmpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Bmpr2	APN	1	59815315	missense	possibly damaging	0.88
IGL01366:Bmpr2	APN	1	59813677	missense	probably damaging	1.00
IGL02281:Bmpr2	APN	1	59868344	missense	probably damaging	1.00
IGL02531:Bmpr2	APN	1	59845714	splice site	probably null
IGL03114:Bmpr2	APN	1	59867444	missense	probably damaging	1.00
R0114:Bmpr2	UTSW	1	59815340	missense	probably damaging	1.00
R0145:Bmpr2	UTSW	1	59867580	frame shift	probably null
R0423:Bmpr2	UTSW	1	59868510	missense	probably benign
R0480:Bmpr2	UTSW	1	59845659	missense	probably damaging	1.00
R0556:Bmpr2	UTSW	1	59815328	missense	probably damaging	1.00
R0597:Bmpr2	UTSW	1	59841425	splice site	probably benign
R1537:Bmpr2	UTSW	1	59868126	missense	probably benign	0.31
R1769:Bmpr2	UTSW	1	59868361	missense	probably damaging	1.00
R1946:Bmpr2	UTSW	1	59868397	missense	possibly damaging	0.83
R1972:Bmpr2	UTSW	1	59813603	missense	possibly damaging	0.55
R4524:Bmpr2	UTSW	1	59867412	missense	probably benign	0.00
R4558:Bmpr2	UTSW	1	59845692	missense	probably damaging	0.99
R4667:Bmpr2	UTSW	1	59867716	missense	probably damaging	1.00
R4668:Bmpr2	UTSW	1	59867716	missense	probably damaging	1.00
R4669:Bmpr2	UTSW	1	59867716	missense	probably damaging	1.00
R4868:Bmpr2	UTSW	1	59870456	missense	probably benign	0.03
R4922:Bmpr2	UTSW	1	59867424	missense	probably benign
R5015:Bmpr2	UTSW	1	59851224	missense	probably damaging	1.00
R5421:Bmpr2	UTSW	1	59870418	missense	possibly damaging	0.96
R5808:Bmpr2	UTSW	1	59867401	missense	probably benign	0.09
R6057:Bmpr2	UTSW	1	59842818	missense	probably benign	0.00
R6228:Bmpr2	UTSW	1	59867436	missense	probably benign	0.11
R6449:Bmpr2	UTSW	1	59867437	missense	probably damaging	0.99
R6475:Bmpr2	UTSW	1	59868344	missense	probably damaging	1.00
R6754:Bmpr2	UTSW	1	59870280	missense	probably damaging	1.00
R7080:Bmpr2	UTSW	1	59867683	missense	probably benign	0.00
R7410:Bmpr2	UTSW	1	59868493	missense	probably benign
R7425:Bmpr2	UTSW	1	59867351	missense	probably benign	0.12
R8027:Bmpr2	UTSW	1	59867803	missense	probably damaging	1.00
R8032:Bmpr2	UTSW	1	59867343	missense	probably benign	0.03
R8117:Bmpr2	UTSW	1	59847093	missense	probably damaging	0.99
R8142:Bmpr2	UTSW	1	59870306	missense	probably damaging	1.00
R8166:Bmpr2	UTSW	1	59867581	missense	probably damaging	0.98
R8376:Bmpr2	UTSW	1	59867356	missense	probably damaging	0.99
R8419:Bmpr2	UTSW	1	59867356	missense	probably damaging	0.99
R8770:Bmpr2	UTSW	1	59845525	missense	probably benign	0.00
R8949:Bmpr2	UTSW	1	59867701	missense	possibly damaging	0.52
R9016:Bmpr2	UTSW	1	59815301	missense	probably damaging	0.99
R9296:Bmpr2	UTSW	1	59867343	missense	probably damaging	0.97
R9469:Bmpr2	UTSW	1	59842769	missense	probably benign
R9773:Bmpr2	UTSW	1	59868338	missense	probably damaging	1.00
Z1176:Bmpr2	UTSW	1	59847167	missense	not run
Z1177:Bmpr2	UTSW	1	59847167	missense	not run

Predicted Primers

Posted On

2014-01-15