Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Bmpr2'

20616

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

038400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

59802721-59917240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59854499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 116 (C116F)

Ref Sequence

ENSEMBL: ENSMUSP00000084701 (fasta)

Gene Model

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

AlphaFold

O35607

Predicted Effect

probably damaging
Transcript: ENSMUST00000087435
AA Change: C116F

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

SMART Domains

Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: C116F

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

0.9746

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	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
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
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'- GCTTTTCCCTGTGAAATGTCTGTGGT -3'
(R):5'- CCAATGCTTTGCTGGTGGTGGTA -3'

Sequencing Primer
(F):5'- AGGATGTTGGTCTCACATCG -3'
(R):5'- CTTTGCTGGTGGTGGTATCTTAC -3'

Posted On

2013-04-11