Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Bmpr2'

351988

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

042012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59763400-59879014 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59867716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 656 (L656S)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

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

AlphaFold

O35607

Predicted Effect

probably damaging
Transcript: ENSMUST00000087435
AA Change: L656S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: L656S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,627 (GRCm38)	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956 (GRCm38)	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416 (GRCm38)	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094 (GRCm38)	T2128A	probably damaging	Het
Ankhd1	C	A	18: 36,648,021 (GRCm38)	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561 (GRCm38)	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518 (GRCm38)	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509 (GRCm38)		probably benign	Het
Bnip5	G	T	17: 28,908,313 (GRCm38)	Q241K	possibly damaging	Het
Btbd17	A	G	11: 114,793,857 (GRCm38)	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283 (GRCm38)	K267N	probably damaging	Het
Cd200l1	A	G	16: 45,444,163 (GRCm38)	S11P	probably benign	Het
Ceacam20	T	C	7: 19,986,027 (GRCm38)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528 (GRCm38)	I47V	probably benign	Het
Cemip2	C	T	19: 21,844,781 (GRCm38)	A1180V	probably benign	Het
Cemip2	G	A	19: 21,797,351 (GRCm38)	R119H	probably benign	Het
Chd9	T	C	8: 91,033,800 (GRCm38)	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167 (GRCm38)	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079 (GRCm38)	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412 (GRCm38)	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892 (GRCm38)		probably benign	Het
Csn1s2b	A	G	5: 87,822,311 (GRCm38)	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081 (GRCm38)		probably benign	Het
Cyp2c66	T	A	19: 39,176,656 (GRCm38)	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161 (GRCm38)	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360 (GRCm38)	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531 (GRCm38)	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700 (GRCm38)		probably benign	Het
Dse	T	G	10: 34,153,012 (GRCm38)	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411 (GRCm38)	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060 (GRCm38)	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787 (GRCm38)	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152 (GRCm38)	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186 (GRCm38)	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532 (GRCm38)	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346 (GRCm38)	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449 (GRCm38)	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920 (GRCm38)	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338 (GRCm38)	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567 (GRCm38)	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420 (GRCm38)	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031 (GRCm38)	L121P	probably damaging	Het
Gphn	T	C	12: 78,454,817 (GRCm38)	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253 (GRCm38)	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382 (GRCm38)	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181 (GRCm38)		probably benign	Het
Hspg2	C	T	4: 137,539,645 (GRCm38)	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451 (GRCm38)	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255 (GRCm38)	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783 (GRCm38)	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921 (GRCm38)	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328 (GRCm38)	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298 (GRCm38)	H1960Q	probably benign	Het
Marchf7	C	T	2: 60,241,050 (GRCm38)	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204 (GRCm38)	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572 (GRCm38)	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636 (GRCm38)	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607 (GRCm38)	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434 (GRCm38)	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806 (GRCm38)	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260 (GRCm38)	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379 (GRCm38)	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971 (GRCm38)	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153 (GRCm38)	E1272G	possibly damaging	Het
Nars1	A	G	18: 64,505,231 (GRCm38)	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518 (GRCm38)	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790 (GRCm38)	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467 (GRCm38)	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727 (GRCm38)	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040 (GRCm38)	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600 (GRCm38)	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010 (GRCm38)	S190A	probably damaging	Het
Optn	T	C	2: 5,033,139 (GRCm38)	K415E	probably benign	Het
Or10n1	T	C	9: 39,613,738 (GRCm38)	M57T	probably damaging	Het
Or52a20	A	G	7: 103,716,638 (GRCm38)	T15A	probably benign	Het
Or8b12i	T	C	9: 20,171,098 (GRCm38)	I158V	probably benign	Het
Or8g52	G	T	9: 39,719,709 (GRCm38)	V161F	probably benign	Het
Pakap	A	T	4: 57,855,655 (GRCm38)	D328V	possibly damaging	Het
Perm1	C	A	4: 156,220,206 (GRCm38)	S803*	probably null	Het
Pex14	T	C	4: 148,984,085 (GRCm38)	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952 (GRCm38)	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273 (GRCm38)	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821 (GRCm38)	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047 (GRCm38)	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666 (GRCm38)	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295 (GRCm38)	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047 (GRCm38)		probably null	Het
Sipa1l2	T	C	8: 125,453,470 (GRCm38)	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799 (GRCm38)	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045 (GRCm38)	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519 (GRCm38)	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695 (GRCm38)	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025 (GRCm38)	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220 (GRCm38)	V243D	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715 (GRCm38)	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317 (GRCm38)	V33A	probably benign	Het
Tut4	G	A	4: 108,495,159 (GRCm38)	E357K	probably damaging	Het
Uck1	T	A	2: 32,256,034 (GRCm38)	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053 (GRCm38)	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498 (GRCm38)	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053 (GRCm38)	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084 (GRCm38)	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732 (GRCm38)	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086 (GRCm38)	M1V	probably null	Het
Wrn	A	T	8: 33,324,338 (GRCm38)	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272 (GRCm38)	G391V	probably damaging	Het
Zfp286	A	G	11: 62,780,602 (GRCm38)	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277 (GRCm38)	H549R	probably damaging	Het

Other mutations in Bmpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Bmpr2	APN	1	59,815,315 (GRCm38)	missense	possibly damaging	0.88
IGL01366:Bmpr2	APN	1	59,813,677 (GRCm38)	missense	probably damaging	1.00
IGL02281:Bmpr2	APN	1	59,868,344 (GRCm38)	missense	probably damaging	1.00
IGL02531:Bmpr2	APN	1	59,845,714 (GRCm38)	splice site	probably null
IGL03114:Bmpr2	APN	1	59,867,444 (GRCm38)	missense	probably damaging	1.00
R0114:Bmpr2	UTSW	1	59,815,340 (GRCm38)	missense	probably damaging	1.00
R0145:Bmpr2	UTSW	1	59,867,580 (GRCm38)	frame shift	probably null
R0423:Bmpr2	UTSW	1	59,868,510 (GRCm38)	missense	probably benign
R0480:Bmpr2	UTSW	1	59,845,659 (GRCm38)	missense	probably damaging	1.00
R0556:Bmpr2	UTSW	1	59,815,328 (GRCm38)	missense	probably damaging	1.00
R0597:Bmpr2	UTSW	1	59,841,425 (GRCm38)	splice site	probably benign
R1167:Bmpr2	UTSW	1	59,859,304 (GRCm38)	missense	probably damaging	1.00
R1537:Bmpr2	UTSW	1	59,868,126 (GRCm38)	missense	probably benign	0.31
R1769:Bmpr2	UTSW	1	59,868,361 (GRCm38)	missense	probably damaging	1.00
R1946:Bmpr2	UTSW	1	59,868,397 (GRCm38)	missense	possibly damaging	0.83
R1972:Bmpr2	UTSW	1	59,813,603 (GRCm38)	missense	possibly damaging	0.55
R4524:Bmpr2	UTSW	1	59,867,412 (GRCm38)	missense	probably benign	0.00
R4558:Bmpr2	UTSW	1	59,845,692 (GRCm38)	missense	probably damaging	0.99
R4668:Bmpr2	UTSW	1	59,867,716 (GRCm38)	missense	probably damaging	1.00
R4669:Bmpr2	UTSW	1	59,867,716 (GRCm38)	missense	probably damaging	1.00
R4868:Bmpr2	UTSW	1	59,870,456 (GRCm38)	missense	probably benign	0.03
R4922:Bmpr2	UTSW	1	59,867,424 (GRCm38)	missense	probably benign
R5015:Bmpr2	UTSW	1	59,851,224 (GRCm38)	missense	probably damaging	1.00
R5421:Bmpr2	UTSW	1	59,870,418 (GRCm38)	missense	possibly damaging	0.96
R5808:Bmpr2	UTSW	1	59,867,401 (GRCm38)	missense	probably benign	0.09
R6057:Bmpr2	UTSW	1	59,842,818 (GRCm38)	missense	probably benign	0.00
R6228:Bmpr2	UTSW	1	59,867,436 (GRCm38)	missense	probably benign	0.11
R6449:Bmpr2	UTSW	1	59,867,437 (GRCm38)	missense	probably damaging	0.99
R6475:Bmpr2	UTSW	1	59,868,344 (GRCm38)	missense	probably damaging	1.00
R6754:Bmpr2	UTSW	1	59,870,280 (GRCm38)	missense	probably damaging	1.00
R7080:Bmpr2	UTSW	1	59,867,683 (GRCm38)	missense	probably benign	0.00
R7410:Bmpr2	UTSW	1	59,868,493 (GRCm38)	missense	probably benign
R7425:Bmpr2	UTSW	1	59,867,351 (GRCm38)	missense	probably benign	0.12
R8027:Bmpr2	UTSW	1	59,867,803 (GRCm38)	missense	probably damaging	1.00
R8032:Bmpr2	UTSW	1	59,867,343 (GRCm38)	missense	probably benign	0.03
R8117:Bmpr2	UTSW	1	59,847,093 (GRCm38)	missense	probably damaging	0.99
R8142:Bmpr2	UTSW	1	59,870,306 (GRCm38)	missense	probably damaging	1.00
R8166:Bmpr2	UTSW	1	59,867,581 (GRCm38)	missense	probably damaging	0.98
R8376:Bmpr2	UTSW	1	59,867,356 (GRCm38)	missense	probably damaging	0.99
R8419:Bmpr2	UTSW	1	59,867,356 (GRCm38)	missense	probably damaging	0.99
R8770:Bmpr2	UTSW	1	59,845,525 (GRCm38)	missense	probably benign	0.00
R8949:Bmpr2	UTSW	1	59,867,701 (GRCm38)	missense	possibly damaging	0.52
R9016:Bmpr2	UTSW	1	59,815,301 (GRCm38)	missense	probably damaging	0.99
R9296:Bmpr2	UTSW	1	59,867,343 (GRCm38)	missense	probably damaging	0.97
R9469:Bmpr2	UTSW	1	59,842,769 (GRCm38)	missense	probably benign
R9773:Bmpr2	UTSW	1	59,868,338 (GRCm38)	missense	probably damaging	1.00
Z1176:Bmpr2	UTSW	1	59,847,167 (GRCm38)	missense	not run
Z1177:Bmpr2	UTSW	1	59,847,167 (GRCm38)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCACAAGCTCGAATCCCTAG -3'
(R):5'- TTTGCAGCCTGTGTGAAGTC -3'

Sequencing Primer
(F):5'- GCTCGAATCCCTAGCCCAG -3'
(R):5'- ACTTCCACTGCGAGCTTTATGAG -3'

Posted On

2015-10-08