Incidental Mutation 'R4352:Bmper'
ID 327346
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 041668-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4352 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 23134372-23396496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23395248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 660 (I660V)
Ref Sequence ENSEMBL: ENSMUSP00000071872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071982]
AlphaFold Q8CJ69
Predicted Effect probably benign
Transcript: ENSMUST00000071982
AA Change: I660V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: I660V

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (79/82)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abtb2 T A 2: 103,513,738 (GRCm39) D382E possibly damaging Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Ankrd54 A T 15: 78,939,662 (GRCm39) F176I probably benign Het
Ano3 T A 2: 110,576,239 (GRCm39) E94V possibly damaging Het
Arid1b A T 17: 5,147,859 (GRCm39) Q587L possibly damaging Het
Atg2a G A 19: 6,307,487 (GRCm39) V1474M probably benign Het
Bcl2a1d A G 9: 88,613,552 (GRCm39) V74A probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Cds2 T A 2: 132,105,365 (GRCm39) M1K probably null Het
Ctr9 T A 7: 110,648,525 (GRCm39) Y722N probably damaging Het
Ddx47 C T 6: 134,995,018 (GRCm39) T161I probably benign Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Efcab3 T A 11: 104,630,140 (GRCm39) L957Q probably null Het
Emilin2 T C 17: 71,587,726 (GRCm39) M129V probably benign Het
Eml1 A T 12: 108,501,096 (GRCm39) probably benign Het
Espnl A T 1: 91,262,443 (GRCm39) D296V probably damaging Het
Fam161a T G 11: 22,970,798 (GRCm39) S109R possibly damaging Het
Fat3 T G 9: 16,158,074 (GRCm39) T1179P possibly damaging Het
Gfra1 A T 19: 58,255,456 (GRCm39) N330K probably benign Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Gm20775 A T Y: 10,641,648 (GRCm39) noncoding transcript Het
Gm5885 T A 6: 133,508,152 (GRCm39) noncoding transcript Het
Gpatch11 T C 17: 79,148,446 (GRCm39) L128P probably damaging Het
H2-Q1 A G 17: 35,539,919 (GRCm39) N63D possibly damaging Het
Itgb2 A T 10: 77,392,001 (GRCm39) N358I probably benign Het
Jmjd1c A G 10: 67,080,588 (GRCm39) T2247A probably damaging Het
Kcnma1 T A 14: 23,361,720 (GRCm39) K1036I probably damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrch1 G T 14: 75,056,018 (GRCm39) S278R probably damaging Het
Lrp2 C A 2: 69,262,526 (GRCm39) probably null Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Mpzl1 G A 1: 165,433,376 (GRCm39) Q36* probably null Het
Msantd5 A G 11: 51,125,646 (GRCm39) N190D possibly damaging Het
Npr2 T C 4: 43,646,592 (GRCm39) S647P probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Otogl A T 10: 107,705,396 (GRCm39) C644S probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Paqr3 T C 5: 97,247,455 (GRCm39) T218A probably benign Het
Pcdh7 C T 5: 57,879,361 (GRCm39) S972L possibly damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ralb A G 1: 119,411,282 (GRCm39) M19T probably benign Het
Rcan1 A G 16: 92,190,384 (GRCm39) I185T probably benign Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Rock1 T A 18: 10,079,237 (GRCm39) Q1077L probably damaging Het
Sesn3 C T 9: 14,231,669 (GRCm39) A200V probably damaging Het
Shh T C 5: 28,663,187 (GRCm39) E327G probably benign Het
Shmt2 G A 10: 127,354,686 (GRCm39) A333V probably damaging Het
Slc15a2 T A 16: 36,592,390 (GRCm39) I256F probably benign Het
Sptbn5 T C 2: 119,913,680 (GRCm39) noncoding transcript Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Taf10 A G 7: 105,392,614 (GRCm39) probably benign Het
Tas2r139 T A 6: 42,118,689 (GRCm39) W274R probably damaging Het
Tbc1d20 T A 2: 152,150,114 (GRCm39) probably benign Het
Tbc1d5 A G 17: 51,089,429 (GRCm39) S584P probably damaging Het
Tcstv1a T C 13: 120,355,407 (GRCm39) D75G probably damaging Het
Tex10 T G 4: 48,452,039 (GRCm39) T696P possibly damaging Het
Tgfbr1 T C 4: 47,402,863 (GRCm39) F206S probably damaging Het
Tmem241 A T 18: 12,246,496 (GRCm39) H51Q probably benign Het
Trim5 A T 7: 103,926,015 (GRCm39) V182D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 A G 18: 63,804,750 (GRCm39) V248A possibly damaging Het
Ubr5 A G 15: 38,041,817 (GRCm39) V204A probably benign Het
Ugp2 C T 11: 21,279,026 (GRCm39) V387I probably damaging Het
Unc45b G A 11: 82,804,035 (GRCm39) D71N probably damaging Het
Usp34 A T 11: 23,270,727 (GRCm39) Y37F possibly damaging Het
Zfp943 A T 17: 22,212,104 (GRCm39) I397F probably damaging Het
Other mutations in Bmper
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AATCTGAGCTTTGATTGTGGCAGAG -3'
(R):5'- TGTGTATTTGCAGAATCAGGCAC -3'

Sequencing Primer
(F):5'- GAGTCTCTGCATAGCCCAC -3'
(R):5'- TTTGCAGAATCAGGCACACAAATAC -3'
Posted On 2015-07-07