Incidental Mutation 'R4056:Bmper'
ID 314251
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 041617-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4056 (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 23310925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 453 (H453R)
Ref Sequence ENSEMBL: ENSMUSP00000071872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071982]
AlphaFold Q8CJ69
Predicted Effect probably benign
Transcript: ENSMUST00000071982
AA Change: H453R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: H453R

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
Predicted Effect probably benign
Transcript: ENSMUST00000214050
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,266,329 (GRCm39) probably benign Het
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Adamts18 T A 8: 114,464,212 (GRCm39) K749* probably null Het
Alms1 A G 6: 85,564,785 (GRCm39) E53G unknown Het
Btg1 T A 10: 96,454,216 (GRCm39) M1K probably null Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cntfr A G 4: 41,658,900 (GRCm39) I277T probably damaging Het
Col6a4 C A 9: 105,903,665 (GRCm39) R1642I probably damaging Het
Ctnna3 T C 10: 64,838,347 (GRCm39) I808T probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dnah17 T C 11: 117,961,364 (GRCm39) T2554A probably benign Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Gabarapl1 T C 6: 129,515,593 (GRCm39) F77S probably damaging Het
Gvin3 G T 7: 106,203,216 (GRCm39) D9E possibly damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Hs3st2 T A 7: 121,099,925 (GRCm39) L257Q probably damaging Het
Ighv1-18 T C 12: 114,646,287 (GRCm39) T106A probably benign Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Iqgap2 A G 13: 95,886,541 (GRCm39) V114A probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Mast2 T A 4: 116,194,698 (GRCm39) probably benign Het
Myo18a A G 11: 77,702,839 (GRCm39) E5G possibly damaging Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Net1 G A 13: 3,934,949 (GRCm39) T359I probably damaging Het
Pcsk9 T A 4: 106,301,899 (GRCm39) H616L probably benign Het
Plekha5 G T 6: 140,534,958 (GRCm39) V597L possibly damaging Het
Plekhg3 T A 12: 76,612,021 (GRCm39) I374N probably damaging Het
Pros1 A T 16: 62,721,008 (GRCm39) R188* probably null Het
Rhbg C T 3: 88,150,755 (GRCm39) V434I probably damaging Het
Rims1 A G 1: 22,363,163 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,098 (GRCm39) probably null Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Slc22a23 A C 13: 34,482,987 (GRCm39) Y181* probably null Het
Spata31 T A 13: 65,069,469 (GRCm39) V539E probably benign Het
Trpv5 G A 6: 41,636,639 (GRCm39) R436C probably damaging Het
Vmn1r13 G A 6: 57,186,970 (GRCm39) C43Y probably benign Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Zfyve16 T C 13: 92,641,057 (GRCm39) N1229S 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
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
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'- TAACTTTCAGGGGACGTGTC -3'
(R):5'- ATGAACAGCAGACCAGACTG -3'

Sequencing Primer
(F):5'- GTTTTGACAAAAGACTGCTCCTC -3'
(R):5'- TGCTCCCCCTGTGCAGAAAG -3'
Posted On 2015-04-30