Mutagenetix > Incidental Mutation

Incidental Mutation 'R1449:Bmpr1b'

159109

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

039504-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R1449 (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 141577134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 59 (E59G)

Ref Sequence

ENSEMBL: ENSMUSP00000101839 (fasta)

Gene Model

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

AlphaFold

P36898

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029948
AA Change: E59G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: E59G

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

possibly damaging
Transcript: ENSMUST00000098568
AA Change: E59G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: E59G

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

possibly damaging
Transcript: ENSMUST00000106230
AA Change: E59G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: E59G

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

possibly damaging
Transcript: ENSMUST00000106232
AA Change: E59G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: E59G

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

silent
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: 98.8%
3x: 97.9%
10x: 94.7%
20x: 87.4%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,182,666 (GRCm39)	N274D	possibly damaging	Het
6430571L13Rik	T	A	9: 107,219,689 (GRCm39)	N47K	probably damaging	Het
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Abca13	A	G	11: 9,248,580 (GRCm39)	T2776A	probably damaging	Het
Adamts10	T	A	17: 33,764,613 (GRCm39)	V711D	probably damaging	Het
Adrb3	G	A	8: 27,717,415 (GRCm39)	R345C	probably damaging	Het
Ak7	T	C	12: 105,708,520 (GRCm39)	V325A	possibly damaging	Het
Armc6	G	A	8: 70,677,943 (GRCm39)	L129F	probably benign	Het
Bend6	T	C	1: 33,917,424 (GRCm39)	N10S	probably benign	Het
Brd3	A	G	2: 27,340,263 (GRCm39)		probably null	Het
Brd3	A	G	2: 27,347,028 (GRCm39)	Y369H	probably damaging	Het
Cacna1e	C	T	1: 154,361,408 (GRCm39)		probably null	Het
Camk4	A	G	18: 33,072,528 (GRCm39)	D27G	probably damaging	Het
Camkk1	T	G	11: 72,924,710 (GRCm39)	S308A	probably damaging	Het
Catsperb	A	G	12: 101,554,456 (GRCm39)	T717A	probably benign	Het
Cdh23	A	T	10: 60,212,730 (GRCm39)	S1563R	probably damaging	Het
Cep44	A	T	8: 56,993,985 (GRCm39)	S197R	probably benign	Het
Col3a1	T	A	1: 45,360,771 (GRCm39)	I67N	unknown	Het
Dcaf12l1	T	C	X: 43,878,304 (GRCm39)	T165A	probably benign	Het
Dicer1	T	C	12: 104,695,502 (GRCm39)	Y143C	possibly damaging	Het
Dlg5	A	G	14: 24,185,711 (GRCm39)	I1898T	possibly damaging	Het
Dnah1	T	C	14: 30,985,908 (GRCm39)	N3762D	probably damaging	Het
Dscaml1	A	T	9: 45,653,521 (GRCm39)	T1382S	possibly damaging	Het
Entpd3	A	T	9: 120,395,555 (GRCm39)	R513W	probably damaging	Het
Foxred1	A	G	9: 35,120,738 (GRCm39)	S132P	probably damaging	Het
Ftsj3	T	C	11: 106,143,826 (GRCm39)	I273V	probably benign	Het
Hsd17b7	C	T	1: 169,787,251 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,887,186 (GRCm39)	V1253D	probably damaging	Het
Iqsec1	T	A	6: 90,667,790 (GRCm39)	K216*	probably null	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kcnk2	G	A	1: 189,072,223 (GRCm39)	S35L	probably benign	Het
Kif13a	T	C	13: 46,966,212 (GRCm39)	Y402C	probably damaging	Het
Lamc1	A	G	1: 153,126,241 (GRCm39)	S484P	probably benign	Het
Lap3	T	C	5: 45,666,861 (GRCm39)		probably null	Het
Lhx8	G	T	3: 154,033,742 (GRCm39)	S46*	probably null	Het
Lin7a	T	C	10: 107,159,813 (GRCm39)	S42P	probably damaging	Het
Lrba	G	A	3: 86,261,585 (GRCm39)	R1513Q	probably damaging	Het
Maml2	C	A	9: 13,531,980 (GRCm39)	P398Q	possibly damaging	Het
Mast2	T	C	4: 116,166,210 (GRCm39)	I1201V	probably damaging	Het
Mmp20	A	T	9: 7,642,769 (GRCm39)	D201V	probably damaging	Het
Morn5	T	A	2: 35,947,092 (GRCm39)	C123*	probably null	Het
Mrpl4	A	G	9: 20,918,807 (GRCm39)	K175E	possibly damaging	Het
Nav3	A	T	10: 109,689,372 (GRCm39)	S302T	probably benign	Het
Ndrg2	T	C	14: 52,145,591 (GRCm39)	Y217C	probably damaging	Het
Nfx1	A	G	4: 40,976,803 (GRCm39)	D159G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,089 (GRCm39)	T109S	possibly damaging	Het
Npepps	A	G	11: 97,097,980 (GRCm39)	Y909H	probably benign	Het
Or10g1	A	G	14: 52,648,024 (GRCm39)	C102R	probably damaging	Het
Or11g7	A	G	14: 50,691,378 (GRCm39)	N290D	probably damaging	Het
Or51a25	A	T	7: 102,373,397 (GRCm39)	F100Y	probably damaging	Het
Or6c211	T	A	10: 129,506,238 (GRCm39)	D50V	probably damaging	Het
Or6c69b	A	C	10: 129,626,723 (GRCm39)	V245G	probably damaging	Het
Pcdh1	T	C	18: 38,322,929 (GRCm39)	H968R	probably damaging	Het
Pde1b	T	A	15: 103,433,470 (GRCm39)	I296N	probably damaging	Het
Phldb1	T	A	9: 44,627,930 (GRCm39)	T172S	probably benign	Het
Plxdc2	T	C	2: 16,665,592 (GRCm39)	V215A	possibly damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pou6f2	G	T	13: 18,347,000 (GRCm39)	Q31K	probably damaging	Het
Psd	T	A	19: 46,313,250 (GRCm39)	Y40F	probably damaging	Het
Rnf126	T	C	10: 79,597,448 (GRCm39)	N155D	probably benign	Het
Rpl36-ps3	C	A	12: 12,962,032 (GRCm39)		noncoding transcript	Het
Rrp15	C	A	1: 186,468,465 (GRCm39)	V184F	possibly damaging	Het
Rslcan18	G	T	13: 67,250,164 (GRCm39)	L24M	possibly damaging	Het
Sall1	A	G	8: 89,759,111 (GRCm39)	I331T	probably benign	Het
Slamf7	A	T	1: 171,468,606 (GRCm39)	N95K	possibly damaging	Het
Slc1a6	T	C	10: 78,635,951 (GRCm39)	Y339H	probably damaging	Het
Slc39a8	A	G	3: 135,532,446 (GRCm39)	N72D	probably benign	Het
Slf1	A	G	13: 77,231,568 (GRCm39)	S604P	probably damaging	Het
Slfn4	C	T	11: 83,079,819 (GRCm39)	T110M	probably benign	Het
Tnpo1	T	C	13: 99,015,220 (GRCm39)	T116A	probably damaging	Het
Tor1b	T	C	2: 30,845,893 (GRCm39)	I190T	probably damaging	Het
Ttn	C	A	2: 76,800,138 (GRCm39)	E357*	probably null	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Ube2i	T	C	17: 25,487,538 (GRCm39)	D67G	possibly damaging	Het
Ubxn11	A	G	4: 133,852,203 (GRCm39)	E50G	probably damaging	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Zcchc7	A	G	4: 44,929,124 (GRCm39)	T38A	possibly damaging	Het
Zfp236	A	G	18: 82,664,130 (GRCm39)	S552P	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
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
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'- GTAGCAACCAGAGTACACTGGATAAGC -3'
(R):5'- GTTGGGAGGTCCTCAACAATGTGTAG -3'

Sequencing Primer
(F):5'- ACTGGATAAGCAAATAATGAAGTCTC -3'
(R):5'- AAACAACAACCaaaaaataaacaagc -3'

Posted On

2014-03-14