Incidental Mutation 'PIT4469001:Bmper'
ID 555831
Institutional Source Beutler Lab
Gene Symbol Bmper
Ensembl Gene ENSMUSG00000031963
Gene Name BMP-binding endothelial regulator
Synonyms Crim3, crossveinless-2, Cv2, CV-2, 3110056H04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4469001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 23134372-23396496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23317845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 488 (H488L)
Ref Sequence ENSEMBL: ENSMUSP00000071872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071982]
AlphaFold Q8CJ69
Predicted Effect probably benign
Transcript: ENSMUST00000071982
AA Change: H488L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: H488L

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
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 71.1%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,652,920 (GRCm39) F83L probably benign Het
Acsm2 T A 7: 119,177,408 (GRCm39) C308S possibly damaging Het
Ak3 A G 19: 29,025,157 (GRCm39) S25P probably damaging Het
Atp13a2 T A 4: 140,721,438 (GRCm39) V176E unknown Het
Cacna1c A T 6: 118,572,933 (GRCm39) C2084S unknown Het
Ccp110 T A 7: 118,321,600 (GRCm39) N418K probably benign Het
Ddx17 C A 15: 79,428,014 (GRCm39) G32C probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Dusp16 G A 6: 134,738,115 (GRCm39) probably benign Het
Efl1 T G 7: 82,307,373 (GRCm39) F90V probably benign Het
Ell2 T A 13: 75,910,011 (GRCm39) N252K probably damaging Het
Gdf6 T C 4: 9,859,569 (GRCm39) V217A probably damaging Het
H1f4 A T 13: 23,806,362 (GRCm39) V40E probably damaging Het
Hint1 T A 11: 54,760,896 (GRCm39) S112T unknown Het
Kif5c T C 2: 49,631,360 (GRCm39) V679A probably benign Het
Lrrn3 A T 12: 41,503,017 (GRCm39) D433E probably benign Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Naa11 A G 5: 97,539,485 (GRCm39) probably null Het
Pcdh18 T A 3: 49,709,518 (GRCm39) H599L probably benign Het
Pgc A T 17: 48,039,680 (GRCm39) K25* probably null Het
Pramel58 T A 5: 94,830,652 (GRCm39) V50E probably damaging Het
Psd4 G A 2: 24,284,306 (GRCm39) D57N probably benign Het
Pxdn G A 12: 30,055,828 (GRCm39) R1238Q probably benign Het
Smim41 T C 15: 101,191,152 (GRCm39) V6A probably benign Het
Spata32 T C 11: 103,100,653 (GRCm39) N38S probably benign Het
Tpr A G 1: 150,279,707 (GRCm39) T279A probably benign Het
Unc13a C A 8: 72,110,958 (GRCm39) E418* probably null Het
Vmn2r97 C A 17: 19,149,878 (GRCm39) T422K probably benign Het
Zfp474 A T 18: 52,771,791 (GRCm39) Q148L possibly 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
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
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'- TTAGACAGTGGCAAGGGTTG -3'
(R):5'- ACTTGAGTTTCTGGCATTCTCG -3'

Sequencing Primer
(F):5'- AATCTGGAGTGGGTGATC -3'
(R):5'- TCACTGTGCCTTGACAGAG -3'
Posted On 2019-06-07