Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Bmper'

45096

Institutional Source

Beutler Lab

Gene Symbol

Bmper

Ensembl Gene

ENSMUSG00000031963

Gene Name

BMP-binding endothelial regulator

Synonyms

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

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23223076-23485200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23373885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 243 (D243E)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000071982
AA Change: D243E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: D243E

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

probably benign
Transcript: ENSMUST00000214050

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,840	Y947N	probably damaging	Het
Acss3	C	A	10: 107,053,471	G163C	probably damaging	Het
Adcy10	A	G	1: 165,565,315	T1367A	probably benign	Het
Adcy2	A	T	13: 68,982,361	S136T	probably benign	Het
Ahdc1	G	A	4: 133,063,037	V530I	probably benign	Het
Aldh16a1	C	T	7: 45,146,229		probably null	Het
Ankrd36	T	C	11: 5,607,429		probably null	Het
Aqr	A	C	2: 114,132,976	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,682,929		probably benign	Het
Atp8b2	C	T	3: 89,959,061		probably benign	Het
Bbx	T	C	16: 50,274,533		probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 148,952,284		probably benign	Het
Catsperd	T	C	17: 56,663,427		probably null	Het
Ccdc92b	T	A	11: 74,629,945		probably null	Het
Cd2bp2	G	T	7: 127,193,824	T342K	probably damaging	Het
Clrn3	T	A	7: 135,528,425	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,406,477		probably null	Het
Cntnap3	T	C	13: 64,762,000	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,309	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,804,949	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753	S389P	probably benign	Het
Ddx18	T	C	1: 121,555,375	K561E	probably benign	Het
Dkk3	A	G	7: 112,158,245	F51L	probably damaging	Het
Dnaic1	C	T	4: 41,596,274	R20*	probably null	Het
Dr1	G	A	5: 108,269,605	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954		probably null	Het
Eif3l	A	G	15: 79,076,867	Y16C	probably damaging	Het
Epb41	A	G	4: 131,975,613	I464T	probably damaging	Het
Erc2	A	G	14: 28,271,651	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,463,509	D315G	probably damaging	Het
Fads6	A	G	11: 115,296,677	I64T	probably benign	Het
Fshr	T	C	17: 89,045,125	N107S	probably benign	Het
Gbp11	A	T	5: 105,343,750	N60K	probably benign	Het
Gm2a	C	T	11: 55,103,665	Q54*	probably null	Het
Hydin	A	G	8: 110,587,775	D4297G	probably benign	Het
Il6st	G	A	13: 112,475,114		probably null	Het
Inpp4b	T	A	8: 81,997,337	H499Q	probably benign	Het
Kif5c	A	G	2: 49,758,912	K956R	possibly damaging	Het
Krt74	G	A	15: 101,760,679		noncoding transcript	Het
Map3k9	A	T	12: 81,725,781	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479	D2871G	probably benign	Het
Mylk4	T	C	13: 32,716,666	T294A	probably benign	Het
Nbeal2	C	T	9: 110,642,158	V252I	probably benign	Het
Nectin3	A	G	16: 46,458,820	I265T	possibly damaging	Het
Olfr1065	A	T	2: 86,445,876	Y35*	probably null	Het
Olfr1109	G	T	2: 87,093,129	H89Q	probably benign	Het
Olfr1259	A	G	2: 89,943,389	I242T	probably damaging	Het
Olfr1447	A	T	19: 12,901,800		probably null	Het
Olfr181	A	G	16: 58,926,385	F62S	probably damaging	Het
Olfr554	G	A	7: 102,640,950	E235K	possibly damaging	Het
Olfr910	T	A	9: 38,539,380	C162S	probably damaging	Het
Opn1sw	A	T	6: 29,380,204	L71Q	probably damaging	Het
Pced1a	G	A	2: 130,419,633	P367S	probably benign	Het
Pkhd1	A	T	1: 20,347,223	M2568K	probably null	Het
Pla2r1	A	G	2: 60,425,350		probably null	Het
Plpp1	T	C	13: 112,834,985	I62T	probably benign	Het
Polr3g	G	A	13: 81,694,773	T41I	probably damaging	Het
Ptch2	T	C	4: 117,096,433		probably benign	Het
Sema4g	A	T	19: 44,997,665	H315L	probably benign	Het
Setd1b	G	T	5: 123,157,660	S1097I	unknown	Het
Sfxn4	A	G	19: 60,850,945		probably benign	Het
Sh3tc1	T	C	5: 35,699,784	E1237G	probably damaging	Het
Slc25a38	A	T	9: 120,123,643	N287I	probably benign	Het
Slc25a48	A	G	13: 56,448,998	T31A	probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,531,155		probably benign	Het
Slco4c1	A	C	1: 96,867,859	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,364,378	T2208A	probably benign	Het
Srebf1	G	A	11: 60,201,676	T843I	probably benign	Het
Srl	A	G	16: 4,487,565	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,594,019	C76*	probably null	Het
Tdrd3	C	A	14: 87,486,220	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trpm3	A	G	19: 22,987,812	E1547G	probably damaging	Het
Ubn1	A	G	16: 5,062,620		probably null	Het
Usp10	T	A	8: 119,947,801	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,400,323		probably benign	Het
Vit	T	A	17: 78,624,793	V443E	possibly damaging	Het
Whamm	G	A	7: 81,586,224	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,400,494	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,224,690	T356S	probably 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
PIT4469001:Bmper	UTSW	9	23406549	missense	probably benign	0.00
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
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
R8905:Bmper	UTSW	9	23406786	missense	probably benign	0.28
R9096:Bmper	UTSW	9	23223692	missense	possibly damaging	0.95
R9260:Bmper	UTSW	9	23406720	missense	probably benign	0.24
R9642:Bmper	UTSW	9	23483902	missense	probably benign	0.02
R9751:Bmper	UTSW	9	23406713	missense	possibly damaging	0.95
R9758:Bmper	UTSW	9	23375606	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCACCATGTTGTGCTGAAATGAGCC -3'
(R):5'- TTCTTCAGATGCCACCAGCAACGG -3'

Sequencing Primer
(F):5'- TGTGCTGAAATGAGCCTAACTCC -3'
(R):5'- CCAGCAACGGTTATTCCTGATAAG -3'

Posted On

2013-06-11