Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Bmpr1b'

208182

Institutional Source

Beutler Lab

Gene Symbol

Bmpr1b

Ensembl Gene

ENSMUSG00000052430

Gene Name

bone morphogenetic protein receptor, type 1B

Synonyms

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

MMRRC Submission

039876-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141542897-141875186 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 141563163 bp (GRCm39)

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]

AlphaFold

P36898

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
2900092C05Rik	A	G	7: 12,246,629 (GRCm39)		probably null	Het
4930433I11Rik	T	A	7: 40,643,037 (GRCm39)	D326E	probably benign	Het
Abca8a	T	C	11: 109,960,212 (GRCm39)	D676G	probably damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acsl6	T	C	11: 54,251,902 (GRCm39)	I683T	probably damaging	Het
Adgrg5	A	T	8: 95,664,428 (GRCm39)	Y345F	probably damaging	Het
Alg6	T	G	4: 99,634,599 (GRCm39)	F114V	probably benign	Het
Ank2	A	C	3: 126,791,500 (GRCm39)		probably null	Het
Ankrd24	A	T	10: 81,478,775 (GRCm39)		probably benign	Het
Ano8	T	C	8: 71,936,131 (GRCm39)	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Bltp2	A	G	11: 78,159,299 (GRCm39)	D499G	probably damaging	Het
C3	A	G	17: 57,529,823 (GRCm39)	V2A	probably damaging	Het
Capn1	A	G	19: 6,059,133 (GRCm39)	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,812,499 (GRCm39)	E85G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chl1	A	T	6: 103,676,120 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,146 (GRCm39)	P38L	probably benign	Het
Clec4a2	G	T	6: 123,116,084 (GRCm39)	E124*	probably null	Het
Cmtr1	T	C	17: 29,921,229 (GRCm39)	V825A	probably benign	Het
Cnksr3	T	C	10: 7,070,539 (GRCm39)	I232V	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cul1	A	G	6: 47,497,764 (GRCm39)	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,605,811 (GRCm39)	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,544,692 (GRCm39)		probably benign	Het
Ddx49	T	C	8: 70,753,633 (GRCm39)	T79A	probably damaging	Het
Defb46	T	A	8: 19,289,991 (GRCm39)		probably null	Het
Dnah17	T	A	11: 118,012,742 (GRCm39)	I145F	probably damaging	Het
Dock8	A	T	19: 25,104,492 (GRCm39)	I725F	probably benign	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Enam	T	A	5: 88,652,324 (GRCm39)	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,794,283 (GRCm39)	V829A	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gm10787	A	T	10: 76,857,711 (GRCm39)		noncoding transcript	Het
Gsap	T	A	5: 21,495,543 (GRCm39)		probably null	Het
Gtf2ird1	T	C	5: 134,411,434 (GRCm39)		probably null	Het
Has3	A	T	8: 107,600,711 (GRCm39)	I58F	probably damaging	Het
Haus5	A	T	7: 30,357,926 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,568 (GRCm39)	V169A	probably benign	Het
Hnf1a	T	A	5: 115,108,770 (GRCm39)	D45V	probably damaging	Het
Il20ra	T	A	10: 19,618,767 (GRCm39)	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,363,667 (GRCm39)	L763P	probably damaging	Het
Katnal2	C	A	18: 77,103,719 (GRCm39)	R104L	probably benign	Het
Kcng4	G	T	8: 120,352,947 (GRCm39)	P321Q	probably benign	Het
Larp4b	T	C	13: 9,187,339 (GRCm39)		probably null	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lhcgr	T	A	17: 89,072,604 (GRCm39)	I148F	probably damaging	Het
Lsm10	T	A	4: 125,991,756 (GRCm39)	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,360,619 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Mme	G	A	3: 63,235,467 (GRCm39)	D172N	probably benign	Het
Mme	A	G	3: 63,235,404 (GRCm39)	S97G	probably benign	Het
Mtrex	A	T	13: 113,009,461 (GRCm39)	H979Q	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,901,660 (GRCm39)	M208T	probably benign	Het
Neb	T	C	2: 52,118,554 (GRCm39)	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,414,009 (GRCm39)	M1T	probably null	Het
Nom1	T	C	5: 29,651,876 (GRCm39)	F738S	possibly damaging	Het
Or10v1	C	A	19: 11,874,249 (GRCm39)	P288H	probably damaging	Het
Or4f61	C	A	2: 111,922,192 (GRCm39)	V285L	probably benign	Het
Or51h5	C	T	7: 102,577,648 (GRCm39)	S271L	probably damaging	Het
Or5b123	C	T	19: 13,596,967 (GRCm39)	S147F	probably damaging	Het
Or5w14	T	C	2: 87,541,317 (GRCm39)		probably null	Het
Or6c203	T	C	10: 129,010,197 (GRCm39)	K231R	probably benign	Het
Or6f2	T	A	7: 139,756,474 (GRCm39)	L147*	probably null	Het
Or9m1b	T	G	2: 87,836,865 (GRCm39)	I86L	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Palb2	G	T	7: 121,713,537 (GRCm39)	D915E	possibly damaging	Het
Pank4	T	C	4: 155,060,816 (GRCm39)	L491P	probably damaging	Het
Paqr7	T	C	4: 134,234,980 (GRCm39)	V279A	probably benign	Het
Pcif1	G	A	2: 164,730,386 (GRCm39)	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,964,927 (GRCm39)	N185I	probably benign	Het
Plcd4	T	C	1: 74,588,520 (GRCm39)	V123A	possibly damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rac3	T	G	11: 120,614,320 (GRCm39)	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Rbl1	A	G	2: 157,016,823 (GRCm39)	I592T	probably benign	Het
Rbl2	A	C	8: 91,822,191 (GRCm39)	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Rorb	A	T	19: 18,939,447 (GRCm39)	L234H	probably damaging	Het
Rpp40	T	G	13: 36,080,897 (GRCm39)	D279A	probably benign	Het
Siglec1	C	A	2: 130,923,420 (GRCm39)	V442L	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Sp140l1	G	A	1: 85,062,852 (GRCm39)		probably benign	Het
Sptbn5	T	C	2: 119,902,125 (GRCm39)	I126M	possibly damaging	Het
Strada	A	G	11: 106,062,047 (GRCm39)	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Tgm1	T	C	14: 55,942,398 (GRCm39)	Y651C	probably damaging	Het
Tmem200c	T	A	17: 69,147,612 (GRCm39)	V65E	probably damaging	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Trgc3	A	T	13: 19,445,261 (GRCm39)	M70L	probably damaging	Het
Vcan	T	G	13: 89,853,511 (GRCm39)	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,283,436 (GRCm39)	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,166,815 (GRCm39)	I772S	probably damaging	Het
Wdfy3	A	G	5: 102,063,242 (GRCm39)	V1342A	probably benign	Het
Zfp507	T	C	7: 35,487,176 (GRCm39)	H764R	probably damaging	Het
Znrf3	A	G	11: 5,237,455 (GRCm39)	I218T	possibly damaging	Het

Other mutations in Bmpr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Bmpr1b	APN	3	141,577,099 (GRCm39)	missense	probably damaging	1.00
IGL01394:Bmpr1b	APN	3	141,568,742 (GRCm39)	critical splice donor site	probably null
IGL02078:Bmpr1b	APN	3	141,576,498 (GRCm39)	missense	possibly damaging	0.63
IGL02315:Bmpr1b	APN	3	141,563,290 (GRCm39)	missense	probably damaging	1.00
IGL02600:Bmpr1b	APN	3	141,546,488 (GRCm39)	missense	probably damaging	1.00
IGL02709:Bmpr1b	APN	3	141,562,314 (GRCm39)	missense	probably damaging	1.00
IGL02972:Bmpr1b	APN	3	141,576,519 (GRCm39)	missense	probably benign	0.00
IGL03305:Bmpr1b	APN	3	141,548,785 (GRCm39)	splice site	probably benign
PIT4366001:Bmpr1b	UTSW	3	141,586,224 (GRCm39)	missense	probably benign
R0026:Bmpr1b	UTSW	3	141,576,494 (GRCm39)	missense	probably benign	0.00
R0026:Bmpr1b	UTSW	3	141,576,494 (GRCm39)	missense	probably benign	0.00
R0242:Bmpr1b	UTSW	3	141,546,437 (GRCm39)	missense	probably damaging	1.00
R0242:Bmpr1b	UTSW	3	141,546,437 (GRCm39)	missense	probably damaging	1.00
R0463:Bmpr1b	UTSW	3	141,563,191 (GRCm39)	missense	possibly damaging	0.53
R0880:Bmpr1b	UTSW	3	141,576,557 (GRCm39)	nonsense	probably null
R1449:Bmpr1b	UTSW	3	141,577,134 (GRCm39)	missense	possibly damaging	0.79
R1815:Bmpr1b	UTSW	3	141,586,124 (GRCm39)	missense	probably benign	0.03
R1971:Bmpr1b	UTSW	3	141,563,333 (GRCm39)	missense	probably damaging	1.00
R2064:Bmpr1b	UTSW	3	141,576,568 (GRCm39)	missense	probably benign	0.00
R2299:Bmpr1b	UTSW	3	141,550,963 (GRCm39)	missense	probably damaging	1.00
R2912:Bmpr1b	UTSW	3	141,586,139 (GRCm39)	missense	probably benign	0.00
R4899:Bmpr1b	UTSW	3	141,546,444 (GRCm39)	missense	probably damaging	1.00
R4960:Bmpr1b	UTSW	3	141,576,546 (GRCm39)	missense	probably damaging	1.00
R4970:Bmpr1b	UTSW	3	141,550,948 (GRCm39)	missense	probably damaging	1.00
R5331:Bmpr1b	UTSW	3	141,562,176 (GRCm39)	missense	probably damaging	1.00
R5607:Bmpr1b	UTSW	3	141,563,283 (GRCm39)	missense	possibly damaging	0.70
R5608:Bmpr1b	UTSW	3	141,563,283 (GRCm39)	missense	possibly damaging	0.70
R5829:Bmpr1b	UTSW	3	141,550,918 (GRCm39)	missense	probably benign	0.00
R5855:Bmpr1b	UTSW	3	141,577,146 (GRCm39)	missense	possibly damaging	0.76
R5933:Bmpr1b	UTSW	3	141,577,128 (GRCm39)	makesense	probably null
R6310:Bmpr1b	UTSW	3	141,570,297 (GRCm39)	missense	probably damaging	0.97
R6469:Bmpr1b	UTSW	3	141,562,222 (GRCm39)	missense	possibly damaging	0.95
R6826:Bmpr1b	UTSW	3	141,563,167 (GRCm39)	missense	probably damaging	1.00
R7167:Bmpr1b	UTSW	3	141,568,841 (GRCm39)	missense	probably benign	0.03
R7526:Bmpr1b	UTSW	3	141,562,360 (GRCm39)	missense	probably damaging	1.00
R8136:Bmpr1b	UTSW	3	141,562,143 (GRCm39)	missense	probably damaging	1.00
R8518:Bmpr1b	UTSW	3	141,563,343 (GRCm39)	missense	possibly damaging	0.95
R8933:Bmpr1b	UTSW	3	141,562,369 (GRCm39)	missense	probably damaging	0.99
R8949:Bmpr1b	UTSW	3	141,586,203 (GRCm39)	missense	possibly damaging	0.83
R9675:Bmpr1b	UTSW	3	141,563,321 (GRCm39)	missense	probably benign	0.00
Z1176:Bmpr1b	UTSW	3	141,548,715 (GRCm39)	missense	probably benign	0.04

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