Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02600:Bmpr1b'

300044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmpr1b

Ensembl Gene

ENSMUSG00000052430

Gene Name

bone morphogenetic protein receptor, type 1B

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.752) question?

Stock #

IGL02600

Quality Score

Status

Chromosome

Chromosomal Location

141837136-142169425 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 141840727 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 466 (M466R)

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: M466R

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,309,438	I483L	probably benign	Het
Casp8ap2	G	A	4: 32,630,246	D42N	probably null	Het
Crebbp	T	A	16: 4,155,018	T271S	probably benign	Het
Ddx27	A	G	2: 167,026,204	H319R	probably damaging	Het
Gckr	A	G	5: 31,305,030	M236V	probably benign	Het
Gm28044	A	C	13: 67,320,961		probably benign	Het
Gmnc	T	A	16: 26,962,891		probably benign	Het
Gpx3	C	A	11: 54,909,607	D210E	possibly damaging	Het
Lpin2	A	G	17: 71,238,698	N513S	probably damaging	Het
Myh3	C	T	11: 67,083,401	R170C	probably damaging	Het
Nrxn3	G	T	12: 89,511,912		probably benign	Het
Nynrin	A	G	14: 55,863,992	I373V	probably benign	Het
Olfr532	T	C	7: 140,418,949	T275A	probably benign	Het
Olfr711	A	G	7: 106,971,549	I265T	possibly damaging	Het
Padi3	A	G	4: 140,798,156	V172A	probably benign	Het
Pdzd2	C	A	15: 12,411,019	G554W	probably damaging	Het
Plekhg6	G	A	6: 125,370,600	R464*	probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Serinc1	A	G	10: 57,523,031	S259P	probably benign	Het
Slfn4	T	A	11: 83,187,006	S207T	possibly damaging	Het
Stab2	C	T	10: 86,954,259	G548R	probably damaging	Het
Tmem229b-ps	T	C	10: 53,474,956		noncoding transcript	Het
Ttn	G	A	2: 76,740,165	P26795S	probably damaging	Het
Vmn2r96	A	G	17: 18,597,567	M661V	probably benign	Het
Wdr34	T	A	2: 30,033,302	D263V	possibly damaging	Het
Ybey	G	A	10: 76,464,331		probably benign	Het
Zbtb17	A	G	4: 141,466,885	D715G	possibly damaging	Het
Zgrf1	T	C	3: 127,600,974		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
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
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
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

Posted On

2015-04-16