Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Bmper'

471884

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

044148-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5963 (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 23375593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 272 (C272S)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000071982
AA Change: C272S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: C272S

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

unknown
Transcript: ENSMUST00000214050
AA Change: C13S

Meta Mutation Damage Score

0.5099

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,379,830	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226	L575*	probably null	Het
Aqr	T	C	2: 114,126,961	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031	S407T	probably benign	Het
Btbd9	C	T	17: 30,334,218		probably null	Het
C5ar1	A	G	7: 16,248,822	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,575,757	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595	M901L	probably damaging	Het
Cherp	G	T	8: 72,461,535		probably benign	Het
D430041D05Rik	C	T	2: 104,248,285	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116		probably null	Het
Hydin	T	A	8: 110,494,294	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,538,481	H66N	probably damaging	Het
Mog	G	A	17: 37,012,348	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481		probably benign	Het
Nom1	T	C	5: 29,437,770	L423P	probably damaging	Het
Olfr65	T	A	7: 103,906,961	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,526,394	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,526,395	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,403,958	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831	R56*	probably null	Het
Primpol	T	A	8: 46,593,580	E227V	possibly damaging	Het
Rad54l	A	T	4: 116,110,387	W233R	probably damaging	Het
Rims2	A	T	15: 39,437,182	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695	S1511P	probably benign	Het
Sept5	T	C	16: 18,624,212		probably null	Het
Simc1	T	A	13: 54,525,819	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713	V242A	probably benign	Het
St14	A	T	9: 31,106,557		probably benign	Het
Tnnt2	T	C	1: 135,843,862		probably benign	Het
Traf5	G	A	1: 192,000,016	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290	L725P	probably damaging	Het
Vps8	T	C	16: 21,470,121	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,145,028	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623		probably benign	Het
Zfp383	A	G	7: 29,915,678	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTGGTAAACCCTCTCCTG -3'
(R):5'- TTTGATGGCTCCCACAAGC -3'

Sequencing Primer
(F):5'- GTGTGGTAAACCCTCTCCTGCTATAG -3'
(R):5'- TGATGGCTCCCACAAGCTCATG -3'

Posted On

2017-03-31