Mutagenetix > Incidental Mutations

Incidental Mutation 'R1852:Bmpr1b'

208182

Institutional Source

Beutler Lab

Gene Symbol

Bmpr1b

Ensembl Gene

ENSMUSG00000052430

Gene Name

bone morphogenetic protein receptor, type 1B

Synonyms

BMPR-IB, Alk6, Acvrlk6, CFK-43a

MMRRC Submission

039876-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141837136-142169425 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 141857402 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]

Predicted Effect

probably null
Transcript: ENSMUST00000029948

SMART Domains

Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.6e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000098568

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.2e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000098568

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.2e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000106230

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.6e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000106230

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.6e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000106232

SMART Domains

Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	30	110	2.2e-15	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	174	204	4.58e-13	SMART
Blast:STYKc	210	491	1e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000131273

SMART Domains

Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430

Domain	Start	End	E-Value	Type
PDB:3EVS\|C	13	47	1e-18	PDB
SCOP:d1es7b_	28	47	2e-4	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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 I receptor, 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 in skeletal and bone development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,268,473	D499G	probably damaging	Het
2900092C05Rik	A	G	7: 12,512,702		probably null	Het
4930433I11Rik	T	A	7: 40,993,613	D326E	probably benign	Het
A530032D15Rik	G	A	1: 85,085,131		probably benign	Het
Abca8a	T	C	11: 110,069,386	D676G	probably damaging	Het
Abcb7	T	C	X: 104,305,399	M153V	probably benign	Het
Ablim3	G	A	18: 61,849,395	H160Y	probably benign	Het
Acsl6	T	C	11: 54,361,076	I683T	probably damaging	Het
Adgrg5	A	T	8: 94,937,800	Y345F	probably damaging	Het
Alg6	T	G	4: 99,746,362	F114V	probably benign	Het
Ank2	A	C	3: 126,997,851		probably null	Het
Ankrd24	A	T	10: 81,642,941		probably benign	Het
Ano8	T	C	8: 71,483,487	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,275,185	S957P	probably benign	Het
C3	A	G	17: 57,222,823	V2A	probably damaging	Het
Capn1	A	G	19: 6,009,103	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,921,673	E85G	probably damaging	Het
Chil3	C	T	3: 106,148,801		probably null	Het
Chl1	A	T	6: 103,699,159		probably null	Het
Chodl	C	T	16: 78,941,258	P38L	probably benign	Het
Clec4a2	G	T	6: 123,139,125	E124*	probably null	Het
Cmtr1	T	C	17: 29,702,255	V825A	probably benign	Het
Cnksr3	T	C	10: 7,120,539	I232V	probably benign	Het
Cntn1	C	T	15: 92,305,140	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278		probably null	Het
Col6a3	T	A	1: 90,807,534	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061	L223*	probably null	Het
Cul1	A	G	6: 47,520,830	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,159,279	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,617,367	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,653,865		probably benign	Het
Ddx49	T	C	8: 70,300,983	T79A	probably damaging	Het
Defb46	T	A	8: 19,239,975		probably null	Het
Dnah17	T	A	11: 118,121,916	I145F	probably damaging	Het
Dock8	A	T	19: 25,127,128	I725F	probably benign	Het
Dppa4	G	A	16: 48,287,884	A11T	probably damaging	Het
Enam	T	A	5: 88,504,465	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,556,843	V829A	probably damaging	Het
Gatb	T	G	3: 85,618,877	L354R	probably damaging	Het
Gm10787	A	T	10: 77,021,877		noncoding transcript	Het
Gm13084	T	C	4: 143,812,826	I32M	probably benign	Het
Gsap	T	A	5: 21,290,545		probably null	Het
Gtf2ird1	T	C	5: 134,382,580		probably null	Het
Has3	A	T	8: 106,874,079	I58F	probably damaging	Het
Haus5	A	T	7: 30,658,501		probably null	Het
Hip1r	T	C	5: 123,991,505	V169A	probably benign	Het
Hnf1a	T	A	5: 114,970,711	D45V	probably damaging	Het
Il20ra	T	A	10: 19,743,019	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,812,257	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,386,706	L763P	probably damaging	Het
Katnal2	C	A	18: 77,016,023	R104L	probably benign	Het
Kcng4	G	T	8: 119,626,208	P321Q	probably benign	Het
Larp4b	T	C	13: 9,137,303		probably null	Het
Lars	T	C	18: 42,212,608	N1001S	probably benign	Het
Lhcgr	T	A	17: 88,765,176	I148F	probably damaging	Het
Lsm10	T	A	4: 126,097,963	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,372,180		probably null	Het
Mipep	T	A	14: 60,843,240	C560*	probably null	Het
Mme	A	G	3: 63,327,983	S97G	probably benign	Het
Mme	G	A	3: 63,328,046	D172N	probably benign	Het
Mx1	A	T	16: 97,448,203	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,851,661	M208T	probably benign	Het
Neb	T	C	2: 52,228,542	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,423,978		probably null	Het
Neto1	T	C	18: 86,395,884	M1T	probably null	Het
Nom1	T	C	5: 29,446,878	F738S	possibly damaging	Het
Olfr1137	T	C	2: 87,710,973		probably null	Het
Olfr1160	T	G	2: 88,006,521	I86L	probably damaging	Het
Olfr1314	C	A	2: 112,091,847	V285L	probably benign	Het
Olfr1420	C	A	19: 11,896,885	P288H	probably damaging	Het
Olfr1487	C	T	19: 13,619,603	S147F	probably damaging	Het
Olfr523	T	A	7: 140,176,561	L147*	probably null	Het
Olfr572	C	T	7: 102,928,441	S271L	probably damaging	Het
Olfr772	T	C	10: 129,174,328	K231R	probably benign	Het
Pak1ip1	A	G	13: 41,011,232	T264A	possibly damaging	Het
Palb2	G	T	7: 122,114,314	D915E	possibly damaging	Het
Pank4	T	C	4: 154,976,359	L491P	probably damaging	Het
Paqr7	T	C	4: 134,507,669	V279A	probably benign	Het
Pcif1	G	A	2: 164,888,466	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,979,172	N185I	probably benign	Het
Plcd4	T	C	1: 74,549,361	V123A	possibly damaging	Het
Prune2	A	G	19: 17,199,139	I154V	probably damaging	Het
Rac3	T	G	11: 120,723,494	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,642,811	D362E	probably benign	Het
Rbl1	A	G	2: 157,174,903	I592T	probably benign	Het
Rbl2	A	C	8: 91,095,563	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,146,675	K416E	probably benign	Het
Rorb	A	T	19: 18,962,083	L234H	probably damaging	Het
Rpp40	T	G	13: 35,896,914	D279A	probably benign	Het
Siglec1	C	A	2: 131,081,500	V442L	probably damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Skiv2l2	A	T	13: 112,872,927	H979Q	probably benign	Het
Slc25a34	G	A	4: 141,622,268	T192I	probably benign	Het
Sptbn5	T	C	2: 120,071,644	I126M	possibly damaging	Het
Strada	A	G	11: 106,171,221	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Tcrg-C3	A	T	13: 19,261,091	M70L	probably damaging	Het
Tgm1	T	C	14: 55,704,941	Y651C	probably damaging	Het
Tmem200c	T	A	17: 68,840,617	V65E	probably damaging	Het
Tmem74	A	T	15: 43,867,163	D161E	probably benign	Het
Vcan	T	G	13: 89,705,392	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,063,174	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,259,394	I772S	probably damaging	Het
Wdfy3	A	G	5: 101,915,376	V1342A	probably benign	Het
Zfp507	T	C	7: 35,787,751	H764R	probably damaging	Het
Znrf3	A	G	11: 5,287,455	I218T	possibly damaging	Het

Other mutations in Bmpr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Bmpr1b	APN	3	141871338	missense	probably damaging	1.00
IGL01394:Bmpr1b	APN	3	141862981	critical splice donor site	probably null
IGL02078:Bmpr1b	APN	3	141870737	missense	possibly damaging	0.63
IGL02315:Bmpr1b	APN	3	141857529	missense	probably damaging	1.00
IGL02600:Bmpr1b	APN	3	141840727	missense	probably damaging	1.00
IGL02709:Bmpr1b	APN	3	141856553	missense	probably damaging	1.00
IGL02972:Bmpr1b	APN	3	141870758	missense	probably benign	0.00
IGL03305:Bmpr1b	APN	3	141843024	splice site	probably benign
PIT4366001:Bmpr1b	UTSW	3	141880463	missense	probably benign
R0026:Bmpr1b	UTSW	3	141870733	missense	probably benign	0.00
R0026:Bmpr1b	UTSW	3	141870733	missense	probably benign	0.00
R0242:Bmpr1b	UTSW	3	141840676	missense	probably damaging	1.00
R0242:Bmpr1b	UTSW	3	141840676	missense	probably damaging	1.00
R0463:Bmpr1b	UTSW	3	141857430	missense	possibly damaging	0.53
R0880:Bmpr1b	UTSW	3	141870796	nonsense	probably null
R1449:Bmpr1b	UTSW	3	141871373	missense	possibly damaging	0.79
R1815:Bmpr1b	UTSW	3	141880363	missense	probably benign	0.03
R1971:Bmpr1b	UTSW	3	141857572	missense	probably damaging	1.00
R2064:Bmpr1b	UTSW	3	141870807	missense	probably benign	0.00
R2299:Bmpr1b	UTSW	3	141845202	missense	probably damaging	1.00
R2912:Bmpr1b	UTSW	3	141880378	missense	probably benign	0.00
R4899:Bmpr1b	UTSW	3	141840683	missense	probably damaging	1.00
R4960:Bmpr1b	UTSW	3	141870785	missense	probably damaging	1.00
R4970:Bmpr1b	UTSW	3	141845187	missense	probably damaging	1.00
R5331:Bmpr1b	UTSW	3	141856415	missense	probably damaging	1.00
R5607:Bmpr1b	UTSW	3	141857522	missense	possibly damaging	0.70
R5608:Bmpr1b	UTSW	3	141857522	missense	possibly damaging	0.70
R5829:Bmpr1b	UTSW	3	141845157	missense	probably benign	0.00
R5855:Bmpr1b	UTSW	3	141871385	missense	possibly damaging	0.76
R5933:Bmpr1b	UTSW	3	141871367	makesense	probably null
R6310:Bmpr1b	UTSW	3	141864536	missense	probably damaging	0.97
R6469:Bmpr1b	UTSW	3	141856461	missense	possibly damaging	0.95
R6826:Bmpr1b	UTSW	3	141857406	missense	probably damaging	1.00
R7167:Bmpr1b	UTSW	3	141863080	missense	probably benign	0.03
R7526:Bmpr1b	UTSW	3	141856599	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATAACATTTCCAGCCCCTGTC -3'
(R):5'- GGTCTTACCAGGTCCAAAGG -3'

Sequencing Primer
(F):5'- AGAAGTACCTTAGTCATGCCTCCTG -3'
(R):5'- CAATAGCTAAGCAAATTCAGATGGTG -3'

Posted On

2014-06-23