Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4469001:Bmper'

555831

Institutional Source

Beutler Lab

Gene Symbol

Bmper

Ensembl Gene

ENSMUSG00000031963

Gene Name

BMP-binding endothelial regulator

Synonyms

CV-2, Crim3, 3110056H04Rik, crossveinless-2, Cv2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4469001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23223076-23485200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23406549 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 488 (H488L)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071982]

Predicted Effect

probably benign
Transcript: ENSMUST00000071982
AA Change: H488L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: H488L

Domain	Start	End	E-Value	Type
VWC	50	105	1.57e-2	SMART
VWC	108	163	1.89e-1	SMART
VWC	166	224	7.27e-7	SMART
VWC	238	289	3.34e-6	SMART
VWC	301	357	1.7e-7	SMART
VWD	355	513	3.75e-41	SMART
C8	553	625	1.07e-14	SMART
Pfam:TIL	629	682	2.5e-13	PFAM

Predicted Effect

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 84.4%
20x: 71.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted protein that contains five Von Willebrand factor type C domains and a Von Willebrand factor type D domain and a trypsin inhibitory-like domain. The encoded protein binds to bone morphogenetic proteins (BMP) and regulates their activity. Mutation of the related gene in humans causes diaphanospondylodysostosis. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out mutation exhibit neonatal lethality associated with abnormal lung and skeleton development. Mice heterozygous for a null allele exhibit abnromal lung development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030408B16Rik	T	C	15: 101,293,271	V6A	probably benign	Het
A630001G21Rik	A	G	1: 85,725,199	F83L	probably benign	Het
Acsm2	T	A	7: 119,578,185	C308S	possibly damaging	Het
Ak3	A	G	19: 29,047,757	S25P	probably damaging	Het
Atp13a2	T	A	4: 140,994,127	V176E	unknown	Het
Cacna1c	A	T	6: 118,595,972	C2084S	unknown	Het
Ccp110	T	A	7: 118,722,377	N418K	probably benign	Het
Ddx17	C	A	15: 79,543,813	G32C	probably damaging	Het
Dusp16	G	A	6: 134,761,152		probably benign	Het
Efl1	T	G	7: 82,658,165	F90V	probably benign	Het
Ell2	T	A	13: 75,761,892	N252K	probably damaging	Het
Gdf6	T	C	4: 9,859,569	V217A	probably damaging	Het
Gm6205	T	A	5: 94,682,793	V50E	probably damaging	Het
Hint1	T	A	11: 54,870,070	S112T	unknown	Het
Hist1h1e	A	T	13: 23,622,379	V40E	probably damaging	Het
Kif5c	T	C	2: 49,741,348	V679A	probably benign	Het
Lrrn3	A	T	12: 41,453,018	D433E	probably benign	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Naa11	A	G	5: 97,391,626		probably null	Het
Pcdh18	T	A	3: 49,755,069	H599L	probably benign	Het
Pgc	A	T	17: 47,728,755	K25*	probably null	Het
Psd4	G	A	2: 24,394,294	D57N	probably benign	Het
Pxdn	G	A	12: 30,005,829	R1238Q	probably benign	Het
Spata32	T	C	11: 103,209,827	N38S	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpr	A	G	1: 150,403,956	T279A	probably benign	Het
Unc13a	C	A	8: 71,658,314	E418*	probably null	Het
Vmn2r97	C	A	17: 18,929,616	T422K	probably benign	Het
Zfp474	A	T	18: 52,638,719	Q148L	possibly damaging	Het

Other mutations in Bmper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Bmper	APN	9	23406527	missense	probably damaging	1.00
IGL00576:Bmper	APN	9	23406603	missense	probably damaging	1.00
IGL01115:Bmper	APN	9	23399689	intron	probably benign
IGL01978:Bmper	APN	9	23381441	missense	probably damaging	1.00
IGL02950:Bmper	APN	9	23399494	missense	probably damaging	1.00
IGL03193:Bmper	APN	9	23366248	missense	possibly damaging	0.46
PIT4531001:Bmper	UTSW	9	23224817	missense	possibly damaging	0.90
R0047:Bmper	UTSW	9	23406686	missense	probably damaging	1.00
R0047:Bmper	UTSW	9	23406686	missense	probably damaging	1.00
R0173:Bmper	UTSW	9	23224829	missense	probably benign	0.02
R0504:Bmper	UTSW	9	23406687	missense	probably damaging	1.00
R0550:Bmper	UTSW	9	23373885	missense	probably benign	0.01
R0722:Bmper	UTSW	9	23373928	missense	probably benign	0.00
R2254:Bmper	UTSW	9	23381463	missense	possibly damaging	0.81
R2255:Bmper	UTSW	9	23381463	missense	possibly damaging	0.81
R2863:Bmper	UTSW	9	23483941	missense	probably benign
R2865:Bmper	UTSW	9	23483941	missense	probably benign
R3841:Bmper	UTSW	9	23473431	splice site	probably null
R4056:Bmper	UTSW	9	23399629	missense	probably benign
R4105:Bmper	UTSW	9	23224763	missense	probably benign	0.00
R4108:Bmper	UTSW	9	23224763	missense	probably benign	0.00
R4352:Bmper	UTSW	9	23483952	missense	probably benign
R4824:Bmper	UTSW	9	23223660	missense	possibly damaging	0.77
R4909:Bmper	UTSW	9	23377725	missense	probably benign	0.07
R5356:Bmper	UTSW	9	23373861	missense	probably benign	0.01
R5379:Bmper	UTSW	9	23297224	missense	probably benign	0.42
R5666:Bmper	UTSW	9	23473463	missense	probably damaging	1.00
R5670:Bmper	UTSW	9	23473463	missense	probably damaging	1.00
R5883:Bmper	UTSW	9	23406674	missense	probably benign	0.28
R5963:Bmper	UTSW	9	23375593	missense	probably benign	0.03
R6312:Bmper	UTSW	9	23406791	missense	possibly damaging	0.46
R6768:Bmper	UTSW	9	23381453	missense	probably damaging	1.00
R6897:Bmper	UTSW	9	23373929	missense	probably benign	0.01
R6907:Bmper	UTSW	9	23399572	missense	probably damaging	1.00
R7220:Bmper	UTSW	9	23399355	missense	probably damaging	1.00
R7366:Bmper	UTSW	9	23484004	missense	probably damaging	1.00
R7473:Bmper	UTSW	9	23375630	missense	probably benign	0.00
R7483:Bmper	UTSW	9	23483942	missense	probably benign	0.04
R7686:Bmper	UTSW	9	23399544	missense	probably benign	0.00
R7976:Bmper	UTSW	9	23406810	missense	probably damaging	1.00
R8345:Bmper	UTSW	9	23224830	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTAGACAGTGGCAAGGGTTG -3'
(R):5'- ACTTGAGTTTCTGGCATTCTCG -3'

Sequencing Primer
(F):5'- AATCTGGAGTGGGTGATC -3'
(R):5'- TCACTGTGCCTTGACAGAG -3'

Posted On

2019-06-07