Mutagenetix > Incidental Mutation

Incidental Mutation 'R5331:Bmpr1b'

423213

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

042913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R5331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141542897-141875186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141562176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 337 (N337S)

Ref Sequence

ENSEMBL: ENSMUSP00000101839 (fasta)

Gene Model

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

AlphaFold

P36898

Predicted Effect

probably damaging
Transcript: ENSMUST00000029948
AA Change: N337S

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

SMART Domains

Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: N337S

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 damaging
Transcript: ENSMUST00000098568
AA Change: N337S

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

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: N337S

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 damaging
Transcript: ENSMUST00000106230
AA Change: N337S

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

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: N337S

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 damaging
Transcript: ENSMUST00000106232
AA Change: N337S

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

SMART Domains

Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: N337S

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

Meta Mutation Damage Score

0.9414

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

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 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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Ablim1	T	C	19: 57,143,681 (GRCm39)	T80A	probably damaging	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Ankrd46	G	A	15: 36,486,175 (GRCm39)	T26I	probably benign	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cct5	A	G	15: 31,594,448 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,914,920 (GRCm39)	K780E	possibly damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Ces3a	G	A	8: 105,784,188 (GRCm39)	E416K	probably damaging	Het
Chd8	T	A	14: 52,439,571 (GRCm39)		probably benign	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctsa	A	G	2: 164,676,229 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dydc1	T	C	14: 40,804,320 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Enpp3	T	A	10: 24,684,058 (GRCm39)	N227I	probably damaging	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fam193a	C	A	5: 34,622,915 (GRCm39)		probably null	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm18025	C	T	12: 34,340,574 (GRCm39)	C173Y	probably benign	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Gpaa1	T	A	15: 76,216,511 (GRCm39)		probably benign	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Gvin3	T	C	7: 106,197,958 (GRCm39)		noncoding transcript	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Insc	T	A	7: 114,444,273 (GRCm39)	M420K	probably damaging	Het
Ints10	A	T	8: 69,273,472 (GRCm39)		probably null	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kat6a	T	A	8: 23,430,000 (GRCm39)	L1785Q	unknown	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Knl1	T	A	2: 118,900,736 (GRCm39)	D812E	possibly damaging	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mon1b	C	T	8: 114,362,899 (GRCm39)	T49I	probably null	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Mxd3	T	C	13: 55,477,071 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nek7	A	T	1: 138,426,312 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Or5d46	T	C	2: 88,170,332 (GRCm39)	L141P	probably damaging	Het
Osmr	G	C	15: 6,872,362 (GRCm39)	T244S	probably damaging	Het
Ovol3	T	C	7: 29,932,904 (GRCm39)	D177G	possibly damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Pdilt	T	C	7: 119,114,147 (GRCm39)	E117G	possibly damaging	Het
Pecr	A	G	1: 72,314,005 (GRCm39)		probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rgsl1	T	C	1: 153,678,038 (GRCm39)	N130S	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Sphkap	A	G	1: 83,254,503 (GRCm39)	V1082A	probably benign	Het
Stox2	G	A	8: 47,866,662 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tekt5	C	T	16: 10,179,193 (GRCm39)	M391I	probably benign	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Themis2	T	C	4: 132,510,244 (GRCm39)	D652G	possibly damaging	Het
Tmem185b	A	G	1: 119,455,322 (GRCm39)		probably benign	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Usp25	C	A	16: 76,847,446 (GRCm39)	Q185K	probably damaging	Het
Xkr5	G	A	8: 18,983,484 (GRCm39)		probably benign	Het
Zfp541	C	T	7: 15,829,683 (GRCm39)	P1331S	probably 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
R1852:Bmpr1b	UTSW	3	141,563,163 (GRCm39)	critical splice donor site	probably null
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
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'- GGTCCTTACCAAGAATATCGTGAC -3'
(R):5'- GGTCCTGGACTCAGTTGTAC -3'

Sequencing Primer
(F):5'- AGAATATCGTGACATGTTTCTCTCC -3'
(R):5'- GGACTCAGTTGTACCTCATCACAG -3'

Posted On

2016-08-04