Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Bmper'

538397

Institutional Source

Beutler Lab

Gene Symbol

Bmper

Ensembl Gene

ENSMUSG00000031963

Gene Name

BMP-binding endothelial regulator

Synonyms

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

MMRRC Submission

044991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23134372-23396496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23285225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 258 (V258E)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000071982
AA Change: V258E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: V258E

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Eloa	T	C	4: 135,740,220 (GRCm39)	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,665,278 (GRCm39)	I103V	probably benign	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Ino80d	A	T	1: 63,104,993 (GRCm39)	I361N	probably damaging	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Palb2	A	G	7: 121,726,270 (GRCm39)		probably null	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ufd1	T	A	16: 18,645,850 (GRCm39)	I254N	probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	probably damaging	Het

Other mutations in Bmper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Bmper	APN	9	23,317,823 (GRCm39)	missense	probably damaging	1.00
IGL00576:Bmper	APN	9	23,317,899 (GRCm39)	missense	probably damaging	1.00
IGL01115:Bmper	APN	9	23,310,985 (GRCm39)	intron	probably benign
IGL01978:Bmper	APN	9	23,292,737 (GRCm39)	missense	probably damaging	1.00
IGL02950:Bmper	APN	9	23,310,790 (GRCm39)	missense	probably damaging	1.00
IGL03193:Bmper	APN	9	23,277,544 (GRCm39)	missense	possibly damaging	0.46
PIT4469001:Bmper	UTSW	9	23,317,845 (GRCm39)	missense	probably benign	0.00
PIT4531001:Bmper	UTSW	9	23,136,113 (GRCm39)	missense	possibly damaging	0.90
R0047:Bmper	UTSW	9	23,317,982 (GRCm39)	missense	probably damaging	1.00
R0047:Bmper	UTSW	9	23,317,982 (GRCm39)	missense	probably damaging	1.00
R0173:Bmper	UTSW	9	23,136,125 (GRCm39)	missense	probably benign	0.02
R0504:Bmper	UTSW	9	23,317,983 (GRCm39)	missense	probably damaging	1.00
R0550:Bmper	UTSW	9	23,285,181 (GRCm39)	missense	probably benign	0.01
R0722:Bmper	UTSW	9	23,285,224 (GRCm39)	missense	probably benign	0.00
R2254:Bmper	UTSW	9	23,292,759 (GRCm39)	missense	possibly damaging	0.81
R2255:Bmper	UTSW	9	23,292,759 (GRCm39)	missense	possibly damaging	0.81
R2863:Bmper	UTSW	9	23,395,237 (GRCm39)	missense	probably benign
R2865:Bmper	UTSW	9	23,395,237 (GRCm39)	missense	probably benign
R3841:Bmper	UTSW	9	23,384,727 (GRCm39)	splice site	probably null
R4056:Bmper	UTSW	9	23,310,925 (GRCm39)	missense	probably benign
R4105:Bmper	UTSW	9	23,136,059 (GRCm39)	missense	probably benign	0.00
R4108:Bmper	UTSW	9	23,136,059 (GRCm39)	missense	probably benign	0.00
R4352:Bmper	UTSW	9	23,395,248 (GRCm39)	missense	probably benign
R4824:Bmper	UTSW	9	23,134,956 (GRCm39)	missense	possibly damaging	0.77
R4909:Bmper	UTSW	9	23,289,021 (GRCm39)	missense	probably benign	0.07
R5356:Bmper	UTSW	9	23,285,157 (GRCm39)	missense	probably benign	0.01
R5379:Bmper	UTSW	9	23,208,520 (GRCm39)	missense	probably benign	0.42
R5666:Bmper	UTSW	9	23,384,759 (GRCm39)	missense	probably damaging	1.00
R5670:Bmper	UTSW	9	23,384,759 (GRCm39)	missense	probably damaging	1.00
R5883:Bmper	UTSW	9	23,317,970 (GRCm39)	missense	probably benign	0.28
R5963:Bmper	UTSW	9	23,286,889 (GRCm39)	missense	probably benign	0.03
R6312:Bmper	UTSW	9	23,318,087 (GRCm39)	missense	possibly damaging	0.46
R6768:Bmper	UTSW	9	23,292,749 (GRCm39)	missense	probably damaging	1.00
R6907:Bmper	UTSW	9	23,310,868 (GRCm39)	missense	probably damaging	1.00
R7220:Bmper	UTSW	9	23,310,651 (GRCm39)	missense	probably damaging	1.00
R7366:Bmper	UTSW	9	23,395,300 (GRCm39)	missense	probably damaging	1.00
R7473:Bmper	UTSW	9	23,286,926 (GRCm39)	missense	probably benign	0.00
R7483:Bmper	UTSW	9	23,395,238 (GRCm39)	missense	probably benign	0.04
R7686:Bmper	UTSW	9	23,310,840 (GRCm39)	missense	probably benign	0.00
R7976:Bmper	UTSW	9	23,318,106 (GRCm39)	missense	probably damaging	1.00
R8345:Bmper	UTSW	9	23,136,126 (GRCm39)	missense	probably benign	0.02
R8905:Bmper	UTSW	9	23,318,082 (GRCm39)	missense	probably benign	0.28
R9096:Bmper	UTSW	9	23,134,988 (GRCm39)	missense	possibly damaging	0.95
R9260:Bmper	UTSW	9	23,318,016 (GRCm39)	missense	probably benign	0.24
R9642:Bmper	UTSW	9	23,395,198 (GRCm39)	missense	probably benign	0.02
R9751:Bmper	UTSW	9	23,318,009 (GRCm39)	missense	possibly damaging	0.95
R9758:Bmper	UTSW	9	23,286,902 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGTGAGATTGTTCCATGACCCTG -3'
(R):5'- ATTGTAGAGCATCCTTAGGCC -3'

Sequencing Primer
(F):5'- AGATTGTTCCATGACCCTGTGATG -3'
(R):5'- TTAGGCCGGCTTCCAGATC -3'

Posted On

2018-11-06