Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Bmper'

406162

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

042440-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4824 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

23134372-23396496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23134956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 7 (V7D)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071982
AA Change: V7D

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: V7D

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

noncoding transcript
Transcript: ENSMUST00000217648

Meta Mutation Damage Score

0.0927

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Klhl6	C	T	16: 19,775,778 (GRCm39)	R260H	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,645,141 (GRCm39)	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,199,922 (GRCm39)	R235H	probably benign	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Washc5	A	T	15: 59,205,485 (GRCm39)	Y685*	probably null	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,570,254 (GRCm39)	T277S	probably benign	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	probably benign	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
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
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'- GCTGAGAGCAACTCCCTTAG -3'
(R):5'- GTGCCTCTTCTCCCAAGAAAC -3'

Sequencing Primer
(F):5'- AAAAGCCGCCGCATTGG -3'
(R):5'- ACCACCCAGAGTCCCGGAG -3'

Posted On

2016-08-01