Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Bmper'

571811

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

045450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23134372-23396496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23395300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 677 (I677T)

Ref Sequence

ENSEMBL: ENSMUSP00000071872 (fasta)

Gene Model

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

AlphaFold

Q8CJ69

Predicted Effect

probably damaging
Transcript: ENSMUST00000071982
AA Change: I677T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: I677T

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: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,911,209 (GRCm39)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,922,717 (GRCm39)	I481L	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,564,168 (GRCm39)	Q528H	possibly damaging	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,164,580 (GRCm39)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Ngfr	A	T	11: 95,465,255 (GRCm39)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	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
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'- AGAGTCTCTGCATAGCCCAC -3'
(R):5'- TGCATCCAATGGCTTAGATATTAGG -3'

Sequencing Primer
(F):5'- GACTTCCATCTCATACAGAAGGTGAG -3'
(R):5'- ACAACAGTCCTTCACTGG -3'

Posted On

2019-09-13