Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Bmper'

645177

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

067801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23134372-23396496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23136126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 69 (M69K)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000071982
AA Change: M69K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: M69K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,284 (GRCm39)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,251,505 (GRCm39)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Aspm	T	G	1: 139,392,011 (GRCm39)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm39)	D29A	probably benign	Het
Bdh2	A	T	3: 135,001,013 (GRCm39)	I128F	probably damaging	Het
Ccdc7a	C	T	8: 129,525,245 (GRCm39)	M1415I	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,767,150 (GRCm39)	T564I	probably benign	Het
Cemip	T	A	7: 83,591,373 (GRCm39)		probably null	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Clec2m	T	A	6: 129,302,593 (GRCm39)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,485,690 (GRCm39)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,504,477 (GRCm39)	T879A	possibly damaging	Het
Diaph3	G	A	14: 87,066,529 (GRCm39)	Q955*	probably null	Het
Disp2	G	A	2: 118,641,284 (GRCm39)	V298M	unknown	Het
Dnah1	C	A	14: 30,986,551 (GRCm39)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,885,234 (GRCm39)	S13P	unknown	Het
Eci3	G	A	13: 35,132,164 (GRCm39)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,674,276 (GRCm39)	L232P	probably benign	Het
Ednra	G	A	8: 78,415,813 (GRCm39)	R145C	probably damaging	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,827,054 (GRCm39)	I275K	probably damaging	Het
Fat3	C	A	9: 15,910,570 (GRCm39)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,191,503 (GRCm39)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 27,854,785 (GRCm39)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,554,789 (GRCm39)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,077,440 (GRCm39)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,070,952 (GRCm39)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,101,605 (GRCm39)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Grm5	A	T	7: 87,723,746 (GRCm39)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,732,902 (GRCm39)	D21V	probably benign	Het
Jak2	T	C	19: 29,262,270 (GRCm39)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,387,897 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,924,993 (GRCm39)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,355,779 (GRCm39)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,653 (GRCm39)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,973,808 (GRCm39)	S1109P	probably benign	Het
Myocd	A	T	11: 65,077,958 (GRCm39)	C612*	probably null	Het
Or4b13	A	T	2: 90,082,561 (GRCm39)	M257K	possibly damaging	Het
Or4c102	A	G	2: 88,422,435 (GRCm39)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,357,864 (GRCm39)	C86*	probably null	Het
Or52h7	T	A	7: 104,213,431 (GRCm39)	M1K	probably null	Het
Or5w22	A	T	2: 87,362,691 (GRCm39)	T105S	probably benign	Het
Or8k21	A	T	2: 86,145,451 (GRCm39)	Y60N	probably damaging	Het
Pard3	C	T	8: 128,050,549 (GRCm39)	R204W	probably damaging	Het
Per1	T	A	11: 68,998,382 (GRCm39)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,055,105 (GRCm39)	S583P	unknown	Het
Pramel12	C	T	4: 143,143,438 (GRCm39)	T68I	probably benign	Het
Prex2	T	A	1: 11,270,118 (GRCm39)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,291,951 (GRCm39)	I756T	probably benign	Het
Pum2	T	C	12: 8,759,454 (GRCm39)	V98A	probably damaging	Het
Rad50	A	T	11: 53,574,968 (GRCm39)	S652T	probably benign	Het
Rfng	G	T	11: 120,674,901 (GRCm39)	P30T	unknown	Het
Rfx7	T	C	9: 72,524,973 (GRCm39)	I721T	probably benign	Het
Rpf1	G	T	3: 146,213,431 (GRCm39)	T240K	probably benign	Het
Ryr3	T	C	2: 112,483,270 (GRCm39)	N4189S	probably benign	Het
Samd15	G	C	12: 87,248,212 (GRCm39)	R299T	probably benign	Het
Scn3a	A	G	2: 65,329,335 (GRCm39)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,324,966 (GRCm39)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,634,605 (GRCm39)	R107Q	probably benign	Het
Sema4b	T	A	7: 79,870,567 (GRCm39)	V505E	probably damaging	Het
Siglec1	T	A	2: 130,920,498 (GRCm39)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm39)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,371,321 (GRCm39)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,187,664 (GRCm39)	Q135L	probably benign	Het
Suox	A	G	10: 128,507,200 (GRCm39)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,273,823 (GRCm39)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,011,256 (GRCm39)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,256,601 (GRCm39)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,076,968 (GRCm39)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,127 (GRCm39)	L229*	probably null	Het
Vwf	A	T	6: 125,656,265 (GRCm39)	D2610V		Het
Zfp646	C	T	7: 127,483,082 (GRCm39)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm39)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,251,731 (GRCm39)	I317F	unknown	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
R6897:Bmper	UTSW	9	23,285,225 (GRCm39)	missense	probably benign	0.01
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
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'- GTTTGTGGTGCATTTGAAACAC -3'
(R):5'- ACGTCAAAGATAAGAATTCTCAGCCTG -3'

Sequencing Primer
(F):5'- AACACCACTAAGCAAGATTT -3'
(R):5'- GCCTGATGTGATATTAGAAATTGCCC -3'

Posted On

2020-09-02