Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Bmpr2'

715318

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9469 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59802721-59917240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59881928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 186 (M186L)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

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

AlphaFold

O35607

Predicted Effect

probably benign
Transcript: ENSMUST00000087435
AA Change: M186L

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

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: M186L

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	T	17: 57,183,283 (GRCm39)	D8V	probably benign	Het
Ada	T	A	2: 163,574,192 (GRCm39)	M155L	probably benign	Het
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Ahnak	G	A	19: 8,988,225 (GRCm39)	G3170R	probably damaging	Het
Alb	G	A	5: 90,610,659 (GRCm39)	D80N	probably benign	Het
Amph	G	T	13: 19,270,769 (GRCm39)	G126V	probably damaging	Het
Anks1b	A	T	10: 90,733,205 (GRCm39)	M994L	possibly damaging	Het
Atp8a2	A	G	14: 60,028,668 (GRCm39)	L933P	probably benign	Het
Bcas1	T	C	2: 170,191,292 (GRCm39)	D546G	possibly damaging	Het
Clca3a2	T	C	3: 144,507,938 (GRCm39)	I711V	probably damaging	Het
Cobll1	G	A	2: 64,966,774 (GRCm39)	T128I	probably damaging	Het
Cog4	T	C	8: 111,608,804 (GRCm39)	W165R	unknown	Het
Cyp2j5	G	A	4: 96,517,731 (GRCm39)	R494*	probably null	Het
Dnah2	G	A	11: 69,321,896 (GRCm39)	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,146 (GRCm39)	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,400,947 (GRCm39)	I150T	probably damaging	Het
Ehd2	A	T	7: 15,684,332 (GRCm39)	I489N	probably damaging	Het
Fam24a	C	A	7: 130,938,392 (GRCm39)	T94K	probably damaging	Het
Gata2	A	G	6: 88,182,301 (GRCm39)	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,069,063 (GRCm39)	I299V	unknown	Het
Gpr161	A	G	1: 165,133,896 (GRCm39)	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,515,817 (GRCm39)	Q15*	probably null	Het
Hus1	A	G	11: 8,948,744 (GRCm39)	V219A	probably benign	Het
Il5	T	C	11: 53,614,824 (GRCm39)	W129R	probably damaging	Het
Ipmk	A	G	10: 71,201,843 (GRCm39)	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,307,322 (GRCm39)	L136P	probably benign	Het
Klhl2	G	A	8: 65,196,069 (GRCm39)	A558V	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lig3	G	A	11: 82,686,199 (GRCm39)	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Megf6	A	G	4: 154,335,369 (GRCm39)	Y276C	probably damaging	Het
Mlph	A	G	1: 90,856,068 (GRCm39)	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,517,170 (GRCm39)	R316S	probably damaging	Het
Myo18b	T	C	5: 112,994,247 (GRCm39)	D902G	probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myom1	G	T	17: 71,368,122 (GRCm39)	A482S	possibly damaging	Het
Nol4	A	G	18: 23,085,318 (GRCm39)	V32A	probably damaging	Het
Nrp2	T	C	1: 62,804,030 (GRCm39)	Y555H	probably damaging	Het
Or12d12	T	C	17: 37,610,956 (GRCm39)	D119G	probably damaging	Het
Or4d10c	G	A	19: 12,065,434 (GRCm39)	H241Y	probably benign	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8k27	C	A	2: 86,275,787 (GRCm39)	D180Y	probably damaging	Het
Papss1	A	G	3: 131,288,959 (GRCm39)	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,343,827 (GRCm39)	M39V	probably benign	Het
Plcl2	G	A	17: 50,913,953 (GRCm39)	D321N	probably benign	Het
Plxna4	G	A	6: 32,494,526 (GRCm39)	P30L	probably benign	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ptpn2	T	A	18: 67,808,907 (GRCm39)	H303L	probably benign	Het
R3hdm1	T	A	1: 128,106,921 (GRCm39)		probably null	Het
Rdx	T	C	9: 51,977,069 (GRCm39)	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181 (GRCm39)	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,575,567 (GRCm39)	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,195,769 (GRCm39)	L671Q	probably damaging	Het
Scube3	C	A	17: 28,386,138 (GRCm39)	S793*	probably null	Het
Sipa1l3	A	T	7: 29,028,481 (GRCm39)	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,900,612 (GRCm39)	N124K	probably benign	Het
Smarcd2	G	A	11: 106,163,332 (GRCm39)	A68V	probably benign	Het
Smg1	T	C	7: 117,739,774 (GRCm39)	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,099,741 (GRCm39)	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,710,941 (GRCm39)	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,573,828 (GRCm39)	I128T	probably benign	Het
Tfdp1	C	T	8: 13,422,965 (GRCm39)	T290M	probably benign	Het
Ticrr	C	T	7: 79,344,511 (GRCm39)	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,223,763 (GRCm39)	Q171L	probably benign	Het
Tmem40	G	A	6: 115,719,321 (GRCm39)	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,419,075 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,539,742 (GRCm39)	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,577,585 (GRCm39)	D165V	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ubac1	G	A	2: 25,897,763 (GRCm39)	R286C	probably damaging	Het
Ube2u	A	G	4: 100,406,958 (GRCm39)	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,101 (GRCm39)	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,487,118 (GRCm39)	V515E	probably damaging	Het
Vps13d	A	G	4: 144,780,691 (GRCm39)	L4011P		Het
Ythdc2	T	C	18: 45,019,383 (GRCm39)	F1384S	probably damaging	Het
Zfp423	T	A	8: 88,509,519 (GRCm39)	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,934,325 (GRCm39)	K93E	probably benign	Het
Zfp980	G	T	4: 145,427,687 (GRCm39)	G139W	probably benign	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
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
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'- TGTTTTAACCCCTGCTGCAG -3'
(R):5'- TCTCTCAGTGCTTAAACTACACACC -3'

Sequencing Primer
(F):5'- ACAGTTGTGAGCTGCCACATG -3'
(R):5'- GCTGGAAACTTGCTTCACAG -3'

Posted On

2022-06-15