Mutagenetix > Incidental Mutation

Incidental Mutation 'R4899:Bmpr1b'

375992

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

042503-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R4899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141542897-141875186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141546444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 481 (R481G)

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: R481G

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

SMART Domains

Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: R481G

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: R481G

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

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: R481G

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: R481G

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

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: R481G

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: R481G

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

SMART Domains

Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: R481G

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	G	3: 40,860,304 (GRCm39)		probably null	Het
Adra2c	A	T	5: 35,437,705 (GRCm39)	Y159F	probably damaging	Het
Alkal2	T	A	12: 30,934,972 (GRCm39)	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,713,361 (GRCm39)	V72A	unknown	Het
Atp13a5	A	G	16: 29,197,318 (GRCm39)	L13P	probably damaging	Het
Azin2	G	A	4: 128,828,446 (GRCm39)	P254S	probably benign	Het
Cacna2d4	G	A	6: 119,245,157 (GRCm39)	W288*	probably null	Het
Cass4	A	G	2: 172,269,789 (GRCm39)	T626A	probably benign	Het
Cep112	T	A	11: 108,497,110 (GRCm39)	D683E	probably damaging	Het
Cfap300	A	T	9: 8,022,494 (GRCm39)	S243T	possibly damaging	Het
Chat	G	T	14: 32,170,934 (GRCm39)	S188R	possibly damaging	Het
Cit	A	G	5: 116,001,087 (GRCm39)	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,443,722 (GRCm39)	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,652,787 (GRCm39)	N185D	probably benign	Het
Cnbd2	G	T	2: 156,181,141 (GRCm39)	V192F	probably benign	Het
Col6a3	C	A	1: 90,730,149 (GRCm39)	G1112V	probably damaging	Het
Csta2	A	T	16: 36,077,731 (GRCm39)	Y96F	possibly damaging	Het
Cyp3a25	A	G	5: 145,914,481 (GRCm39)	F483S	possibly damaging	Het
Dscam	T	C	16: 96,485,018 (GRCm39)	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921 (GRCm39)	Q1629*	probably null	Het
Enpp6	A	G	8: 47,440,118 (GRCm39)	Y38C	probably damaging	Het
Epg5	T	A	18: 78,028,272 (GRCm39)	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,722,528 (GRCm39)	V75I	probably benign	Het
Fat3	T	C	9: 15,881,095 (GRCm39)	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,159,921 (GRCm39)	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,842 (GRCm39)	N990D	probably benign	Het
Frat1	T	G	19: 41,818,761 (GRCm39)	L52R	probably damaging	Het
Ftmt	C	G	18: 52,464,658 (GRCm39)		probably benign	Het
H2-M1	C	T	17: 36,982,112 (GRCm39)	G163D	probably benign	Het
Hapln1	A	G	13: 89,749,769 (GRCm39)	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,838,381 (GRCm39)	A31S	probably benign	Het
Il6st	T	C	13: 112,637,695 (GRCm39)	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,633,472 (GRCm39)	I213T	probably damaging	Het
Kidins220	T	C	12: 25,063,442 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mertk	C	A	2: 128,625,845 (GRCm39)	P660Q	probably damaging	Het
Mrtfa	A	G	15: 80,902,587 (GRCm39)	Y241H	probably damaging	Het
Mtarc2	A	T	1: 184,577,821 (GRCm39)	I65N	probably damaging	Het
Napepld	A	G	5: 21,888,438 (GRCm39)	Y4H	probably benign	Het
Ncam1	T	A	9: 49,456,551 (GRCm39)		probably null	Het
Nuak2	A	T	1: 132,252,724 (GRCm39)	K93*	probably null	Het
Oat	A	T	7: 132,165,951 (GRCm39)	D211E	probably benign	Het
Or1j19	A	G	2: 36,676,810 (GRCm39)	Q91R	probably benign	Het
Or2aj6	G	A	16: 19,442,950 (GRCm39)	A300V	probably benign	Het
Or4c109	A	C	2: 88,818,454 (GRCm39)	L31V	probably null	Het
Or51b17	A	G	7: 103,542,672 (GRCm39)	I90T	possibly damaging	Het
Or7a39	A	T	10: 78,715,041 (GRCm39)	S12C	probably benign	Het
Pde4dip	C	A	3: 97,616,874 (GRCm39)	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,211,862 (GRCm39)	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 44,803,951 (GRCm39)		probably benign	Het
Plekhd1	T	C	12: 80,769,101 (GRCm39)	S454P	probably damaging	Het
Polr2h	G	A	16: 20,539,303 (GRCm39)	V89M	probably damaging	Het
Pptc7	G	A	5: 122,422,780 (GRCm39)	G17S	possibly damaging	Het
Pramel55	T	C	5: 95,949,586 (GRCm39)	V111A	probably benign	Het
Ptpra	T	C	2: 130,386,356 (GRCm39)	V602A	probably damaging	Het
Rnf123	C	T	9: 107,940,879 (GRCm39)	R654H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	A	G	16: 75,675,991 (GRCm39)	S135P	probably damaging	Het
Sgsm3	A	G	15: 80,890,980 (GRCm39)	N147S	probably benign	Het
Shoc1	T	C	4: 59,062,640 (GRCm39)	Y872C	probably damaging	Het
Slc22a29	T	C	19: 8,138,933 (GRCm39)	T510A	probably benign	Het
Smc4	T	A	3: 68,939,144 (GRCm39)	H978Q	probably damaging	Het
Sox7	G	A	14: 64,185,927 (GRCm39)	R321H	probably damaging	Het
Spred3	T	C	7: 28,861,258 (GRCm39)	D307G	probably damaging	Het
Syne2	T	A	12: 75,900,875 (GRCm39)	D11E	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Top2b	A	T	14: 16,387,313 (GRCm38)	I134F	probably damaging	Het
Tspan1	T	A	4: 116,020,563 (GRCm39)	R206*	probably null	Het
Ttc3	A	T	16: 94,230,314 (GRCm39)	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,693,549 (GRCm39)	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,151,324 (GRCm39)	S97P	probably damaging	Het
Zfp2	T	A	11: 50,790,841 (GRCm39)	I401F	probably damaging	Het
Zfp629	T	C	7: 127,210,190 (GRCm39)	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,231 (GRCm39)	V834I	probably benign	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
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'- TCCAGGAAAGTCTGAACTCAC -3'
(R):5'- TGTCACCAGGGAGATGTGAG -3'

Sequencing Primer
(F):5'- TCTGAACTCACTGGGCAGTAG -3'
(R):5'- CCGTTCACATGAAATTCAGTGTTC -3'

Posted On

2016-03-17