Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Bmpr2'

504441

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

044357-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59802721-59917240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59906595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 563 (V563L)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

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

AlphaFold

O35607

Predicted Effect

probably benign
Transcript: ENSMUST00000087435
AA Change: V563L

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: V563L

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

0.0635

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 45,679,680 (GRCm39)	T9K	probably benign	Het
Ankrd28	T	C	14: 31,429,177 (GRCm39)	H925R	probably damaging	Het
Antxrl	A	T	14: 33,778,556 (GRCm39)	T128S	probably damaging	Het
Atosa	A	G	9: 74,913,645 (GRCm39)	M100V	possibly damaging	Het
Atp8b5	T	C	4: 43,304,674 (GRCm39)	Y62H	probably damaging	Het
Btn1a1	A	T	13: 23,648,521 (GRCm39)	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,726,154 (GRCm39)	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,144,862 (GRCm39)	I150N	probably damaging	Het
Cdc26	C	T	4: 62,321,031 (GRCm39)	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,236,496 (GRCm39)	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,519,920 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dgat1	T	C	15: 76,387,493 (GRCm39)	N317S	possibly damaging	Het
Disp1	G	A	1: 182,880,589 (GRCm39)	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,614,656 (GRCm39)		probably null	Het
Dnase1l2	C	A	17: 24,661,492 (GRCm39)		probably benign	Het
Dsg2	T	C	18: 20,727,350 (GRCm39)		probably null	Het
Duox2	A	T	2: 122,117,674 (GRCm39)	F887I	probably benign	Het
Duxf4	A	G	10: 58,071,344 (GRCm39)	M290T	probably benign	Het
Efcab6	T	C	15: 83,851,825 (GRCm39)	D351G	possibly damaging	Het
Ep400	A	G	5: 110,818,808 (GRCm39)	V2621A	probably damaging	Het
Epg5	G	T	18: 77,991,677 (GRCm39)	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,800,783 (GRCm39)	R953G	probably damaging	Het
Etfdh	G	T	3: 79,519,336 (GRCm39)	Y272*	probably null	Het
Fam117b	A	G	1: 60,008,207 (GRCm39)	E347G	probably damaging	Het
Gfra3	A	T	18: 34,828,846 (GRCm39)	C183S	probably damaging	Het
Gmip	A	G	8: 70,268,773 (GRCm39)	D466G	probably damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Gpd1	A	T	15: 99,621,146 (GRCm39)	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,312,851 (GRCm39)	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,520,623 (GRCm39)	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,728,973 (GRCm39)	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,313,081 (GRCm39)	M31V	possibly damaging	Het
Itih1	T	C	14: 30,653,217 (GRCm39)	D737G	probably benign	Het
Kcnc4	G	C	3: 107,355,693 (GRCm39)	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,468,921 (GRCm39)	T195S	probably damaging	Het
Limch1	A	T	5: 67,173,845 (GRCm39)	D642V	probably damaging	Het
Lrp2	T	G	2: 69,312,710 (GRCm39)	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,146,565 (GRCm39)	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Lypd8	A	T	11: 58,277,629 (GRCm39)	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,137,262 (GRCm39)	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,276,115 (GRCm39)	G483D	probably benign	Het
Mrpl35	C	A	6: 71,800,661 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,497,665 (GRCm39)	H936L	probably benign	Het
Myh3	A	T	11: 66,978,312 (GRCm39)	Y433F	probably benign	Het
Napb	C	T	2: 148,540,098 (GRCm39)		probably null	Het
Nbeal1	C	A	1: 60,335,083 (GRCm39)	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,465,301 (GRCm39)	Q224*	probably null	Het
Nkapd1	A	G	9: 50,518,971 (GRCm39)	S214P	possibly damaging	Het
Nkd2	A	G	13: 73,969,579 (GRCm39)	S284P	probably benign	Het
Or10a2	T	C	7: 106,673,343 (GRCm39)	Y103H	probably damaging	Het
Or5b12	A	T	19: 12,897,301 (GRCm39)	V124E	probably damaging	Het
Or6k2	G	A	1: 173,979,712 (GRCm39)	S210N	probably benign	Het
Or8h10	T	C	2: 86,809,035 (GRCm39)	Y35C	probably damaging	Het
Pcdhb8	A	G	18: 37,490,037 (GRCm39)	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,535,115 (GRCm39)	I370V	probably benign	Het
Pcsk5	T	G	19: 17,558,631 (GRCm39)	E592A	possibly damaging	Het
Pigc	T	C	1: 161,798,036 (GRCm39)	V6A	probably benign	Het
Pla2g6	T	G	15: 79,189,924 (GRCm39)	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,751,874 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,863,646 (GRCm39)	V288A	probably benign	Het
Rapgef5	A	G	12: 117,685,398 (GRCm39)		probably null	Het
Rcn3	T	C	7: 44,732,720 (GRCm39)	N316S	probably damaging	Het
Rgs6	A	G	12: 83,112,738 (GRCm39)	K183E	probably damaging	Het
Rhoc	A	G	3: 104,700,297 (GRCm39)		probably null	Het
Serinc5	T	C	13: 92,844,616 (GRCm39)	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,159,614 (GRCm39)	M93R	probably damaging	Het
Slc25a3	A	T	10: 90,958,090 (GRCm39)	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,015,777 (GRCm39)	Y459C	probably benign	Het
Slc44a5	A	T	3: 153,944,800 (GRCm39)	Y139F	probably benign	Het
Spag17	A	T	3: 99,929,918 (GRCm39)	Q539L	probably benign	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Stard9	A	G	2: 120,544,231 (GRCm39)	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,756,030 (GRCm39)	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,003,266 (GRCm39)	V501I	probably damaging	Het
Thap2	T	C	10: 115,208,751 (GRCm39)	H123R	probably damaging	Het
Tlx3	C	A	11: 33,152,432 (GRCm39)	W221L	probably benign	Het
Tmem262	T	A	19: 6,130,567 (GRCm39)		probably null	Het
Tpmt	C	A	13: 47,180,735 (GRCm39)	R201S	probably benign	Het
Trpm6	T	C	19: 18,831,655 (GRCm39)	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,795,847 (GRCm39)	E64G	possibly damaging	Het
Ttn	A	T	2: 76,640,790 (GRCm39)	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,726 (GRCm39)	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,260,633 (GRCm39)	N224K	probably benign	Het
Vmn2r59	C	T	7: 41,691,835 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,046,295 (GRCm39)	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,975,059 (GRCm39)	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,792,216 (GRCm39)	D324G	probably benign	Het
Zfp217	T	C	2: 169,961,497 (GRCm39)	T277A	probably benign	Het
Zfp451	A	G	1: 33,842,219 (GRCm39)		probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp871	T	C	17: 32,994,858 (GRCm39)	S106G	possibly 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
R0423:Bmpr2	UTSW	1	59,907,669 (GRCm39)	missense	probably benign
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
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'- AGCAGTGGGACTTTGGAATC -3'
(R):5'- TCATCTGGGTATGGCATCTCAG -3'

Sequencing Primer
(F):5'- CAGTGGGACTTTGGAATCAGTGG -3'
(R):5'- GCATCTCAGATATAGTGGTCATGCC -3'

Posted On

2018-02-28