Mutagenetix > Incidental Mutations

Incidental Mutation 'R4899:Bmpr1b'

375992

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

042503-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R4899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141837136-142169425 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141840683 bp

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]

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
2010005H15Rik	A	T	16: 36,257,365	Y96F	possibly damaging	Het
9230110C19Rik	A	T	9: 8,022,493	S243T	possibly damaging	Het
Abhd18	C	G	3: 40,905,869		probably null	Het
Adra2c	A	T	5: 35,280,361	Y159F	probably damaging	Het
AI481877	T	C	4: 59,062,640	Y872C	probably damaging	Het
Alkal2	T	A	12: 30,884,973	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,823,349	V72A	unknown	Het
Atp13a5	A	G	16: 29,378,500	L13P	probably damaging	Het
Azin2	G	A	4: 128,934,653	P254S	probably benign	Het
Cacna2d4	G	A	6: 119,268,196	W288*	probably null	Het
Cass4	A	G	2: 172,427,869	T626A	probably benign	Het
Cep112	T	A	11: 108,606,284	D683E	probably damaging	Het
Chat	G	T	14: 32,448,977	S188R	possibly damaging	Het
Cit	A	G	5: 115,863,028	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,737,961	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,675,824	N185D	probably benign	Het
Cnbd2	G	T	2: 156,339,221	V192F	probably benign	Het
Col6a3	C	A	1: 90,802,427	G1112V	probably damaging	Het
Cyp3a25	A	G	5: 145,977,671	F483S	possibly damaging	Het
Dscam	T	C	16: 96,683,818	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921	Q1629*	probably null	Het
E330014E10Rik	T	C	5: 95,801,727	V111A	probably benign	Het
Enpp6	A	G	8: 46,987,083	Y38C	probably damaging	Het
Epg5	T	A	18: 77,985,057	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,574,669	V75I	probably benign	Het
Fat3	T	C	9: 15,969,799	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,330,853	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,843	N990D	probably benign	Het
Frat1	T	G	19: 41,830,322	L52R	probably damaging	Het
Ftmt	C	G	18: 52,331,586		probably benign	Het
H2-M1	C	T	17: 36,671,220	G163D	probably benign	Het
Hapln1	A	G	13: 89,601,650	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,861,397	A31S	probably benign	Het
Il6st	T	C	13: 112,501,161	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,832,613	I213T	probably damaging	Het
Kidins220	T	C	12: 25,013,443		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Marc2	A	T	1: 184,845,624	I65N	probably damaging	Het
Mertk	C	A	2: 128,783,925	P660Q	probably damaging	Het
Mkl1	A	G	15: 81,018,386	Y241H	probably damaging	Het
Napepld	A	G	5: 21,683,440	Y4H	probably benign	Het
Ncam1	T	A	9: 49,545,251		probably null	Het
Nuak2	A	T	1: 132,324,986	K93*	probably null	Het
Oat	A	T	7: 132,564,222	D211E	probably benign	Het
Olfr1214	A	C	2: 88,988,110	L31V	probably null	Het
Olfr1355	A	T	10: 78,879,207	S12C	probably benign	Het
Olfr171	G	A	16: 19,624,200	A300V	probably benign	Het
Olfr348	A	G	2: 36,786,798	Q91R	probably benign	Het
Olfr64	A	G	7: 103,893,465	I90T	possibly damaging	Het
Pde4dip	C	A	3: 97,709,558	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,078,791	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 45,154,527		probably benign	Het
Plekhd1	T	C	12: 80,722,327	S454P	probably damaging	Het
Polr2h	G	A	16: 20,720,553	V89M	probably damaging	Het
Pptc7	G	A	5: 122,284,717	G17S	possibly damaging	Het
Ptpra	T	C	2: 130,544,436	V602A	probably damaging	Het
Rnf123	C	T	9: 108,063,680	R654H	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Samsn1	A	G	16: 75,879,103	S135P	probably damaging	Het
Sgsm3	A	G	15: 81,006,779	N147S	probably benign	Het
Slc22a29	T	C	19: 8,161,569	T510A	probably benign	Het
Smc4	T	A	3: 69,031,811	H978Q	probably damaging	Het
Sox7	G	A	14: 63,948,478	R321H	probably damaging	Het
Spred3	T	C	7: 29,161,833	D307G	probably damaging	Het
Syne2	T	A	12: 75,854,101	D11E	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,214,452		probably benign	Het
Top2b	A	T	14: 16,387,313	I134F	probably damaging	Het
Tspan1	T	A	4: 116,163,366	R206*	probably null	Het
Ttc3	A	T	16: 94,429,455	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,716,565	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,003,458	S97P	probably damaging	Het
Zfp2	T	A	11: 50,900,014	I401F	probably damaging	Het
Zfp629	T	C	7: 127,611,018	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,145	V834I	probably benign	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
R1852:Bmpr1b	UTSW	3	141857402	critical splice donor site	probably null
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
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
R8136:Bmpr1b	UTSW	3	141856382	missense	probably damaging	1.00
R8518:Bmpr1b	UTSW	3	141857582	missense	possibly damaging	0.95
Z1176:Bmpr1b	UTSW	3	141842954	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