Incidental Mutation 'R8905:Bmper'
ID 680038
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 068762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8905 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 23134372-23396496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23318082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 567 (E567G)
Ref Sequence ENSEMBL: ENSMUSP00000071872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071982]
AlphaFold Q8CJ69
Predicted Effect probably benign
Transcript: ENSMUST00000071982
AA Change: E567G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: E567G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,553 (GRCm39) V236A probably benign Het
Abca15 A T 7: 119,960,771 (GRCm39) R744S probably benign Het
Adgra1 T C 7: 139,455,763 (GRCm39) S464P probably damaging Het
Arhgap45 T C 10: 79,855,570 (GRCm39) V3A probably benign Het
AW554918 T A 18: 25,473,206 (GRCm39) S134T probably damaging Het
C2cd3 T C 7: 100,074,132 (GRCm39) probably null Het
Cars1 A G 7: 143,140,196 (GRCm39) Y170H probably damaging Het
Celsr1 A T 15: 85,788,269 (GRCm39) probably benign Het
Celsr3 C T 9: 108,718,501 (GRCm39) H2351Y probably damaging Het
Cfap210 A G 2: 69,612,104 (GRCm39) S175P probably benign Het
Clxn A G 16: 14,738,275 (GRCm39) I147V possibly damaging Het
Cyp2d11 T C 15: 82,275,102 (GRCm39) I282V probably benign Het
Dhfr A G 13: 92,494,467 (GRCm39) T57A probably damaging Het
Dhrs7l T A 12: 72,666,431 (GRCm39) D80V probably damaging Het
Dnah7b A C 1: 46,292,534 (GRCm39) Q2973P probably damaging Het
Dnajc5b T C 3: 19,633,184 (GRCm39) C136R probably benign Het
Ercc3 T G 18: 32,398,771 (GRCm39) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm39) Y279C probably damaging Het
Fbxw7 T C 3: 84,872,634 (GRCm39) M191T possibly damaging Het
Fcgbp T A 7: 27,785,934 (GRCm39) V457E probably damaging Het
Fip1l1 A T 5: 74,756,624 (GRCm39) T539S probably damaging Het
Gabra1 T C 11: 42,038,052 (GRCm39) T189A possibly damaging Het
Glg1 T C 8: 111,884,668 (GRCm39) D1118G probably damaging Het
Gli3 A G 13: 15,901,116 (GRCm39) D1501G probably benign Het
Hacd1 A G 2: 14,049,761 (GRCm39) I91T possibly damaging Het
Ift22 T C 5: 136,941,745 (GRCm39) V159A probably benign Het
Igkv1-110 T A 6: 68,248,070 (GRCm39) Y60N probably damaging Het
Inpp5d A G 1: 87,637,348 (GRCm39) K502E probably damaging Het
Kcnt2 A T 1: 140,435,467 (GRCm39) Q478L possibly damaging Het
Mettl13 A G 1: 162,364,847 (GRCm39) F511L probably damaging Het
Mis18bp1 T C 12: 65,180,401 (GRCm39) probably null Het
Mrps30 A T 13: 118,523,479 (GRCm39) S98T probably benign Het
Muc2 C T 7: 141,279,643 (GRCm39) A209V probably benign Het
Nfs1 A T 2: 155,970,503 (GRCm39) I270N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm39) S266P probably benign Het
Obscn A G 11: 58,960,784 (GRCm39) S3176P probably damaging Het
Or4c123 A T 2: 89,126,801 (GRCm39) L271Q possibly damaging Het
Or7g12 A G 9: 18,899,494 (GRCm39) D70G possibly damaging Het
P2ry12 T A 3: 59,124,997 (GRCm39) Y226F probably damaging Het
Pabpc2 C A 18: 39,907,704 (GRCm39) T323K probably benign Het
Pank2 A G 2: 131,124,646 (GRCm39) D71G possibly damaging Het
Patj A T 4: 98,385,412 (GRCm39) H393L probably damaging Het
Pde8b A G 13: 95,182,993 (GRCm39) V255A probably damaging Het
Plekhs1 T C 19: 56,471,028 (GRCm39) W374R probably damaging Het
Ppm1g T C 5: 31,361,437 (GRCm39) D313G probably damaging Het
Rnf114 A G 2: 167,353,134 (GRCm39) N135S probably benign Het
Rnf43 T G 11: 87,621,951 (GRCm39) Y351D probably damaging Het
Robo1 A T 16: 72,539,173 (GRCm39) D90V probably damaging Het
Sbds A G 5: 130,277,125 (GRCm39) V172A possibly damaging Het
Scamp5 T A 9: 57,352,669 (GRCm39) I167F probably benign Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sfxn1 T A 13: 54,246,433 (GRCm39) V159E probably damaging Het
Sgsm1 C T 5: 113,421,495 (GRCm39) G531R probably benign Het
Slc22a26 T A 19: 7,760,331 (GRCm39) I471F probably damaging Het
Slc41a3 T A 6: 90,589,123 (GRCm39) M78K probably benign Het
Slc8a1 A T 17: 81,749,084 (GRCm39) Y653N probably benign Het
Slco6c1 A T 1: 97,053,391 (GRCm39) M170K possibly damaging Het
Smarca5 A T 8: 81,440,577 (GRCm39) I629K probably benign Het
Smg7 T A 1: 152,715,817 (GRCm39) D1099V probably damaging Het
Spata31e2 A G 1: 26,721,895 (GRCm39) V1095A probably damaging Het
Srbd1 T C 17: 86,308,890 (GRCm39) I763V probably benign Het
Stk25 A G 1: 93,556,929 (GRCm39) S30P probably damaging Het
Sv2b C T 7: 74,767,459 (GRCm39) A646T probably benign Het
Tardbp T C 4: 148,705,093 (GRCm39) M167V probably benign Het
Tmem132a T C 19: 10,842,647 (GRCm39) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm39) S162T probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Vmn2r3 T A 3: 64,166,695 (GRCm39) Y812F probably damaging Het
Yeats2 A G 16: 20,009,144 (GRCm39) T463A probably benign Het
Zbtb26 T A 2: 37,326,927 (GRCm39) K36N probably benign Het
Zfc3h1 A T 10: 115,259,383 (GRCm39) T1652S probably benign Het
Zfp472 G A 17: 33,197,455 (GRCm39) C510Y possibly damaging Het
Zfp518a C A 19: 40,902,780 (GRCm39) T903K probably damaging Het
Zfp668 T C 7: 127,465,598 (GRCm39) T529A probably benign Het
Zfp930 A G 8: 69,681,351 (GRCm39) T349A possibly damaging Het
Zmiz2 T G 11: 6,346,840 (GRCm39) Y182D 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
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
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'- TCTCAAGGGCAAGCTCTGTG -3'
(R):5'- TCTAGAGAAGACAAGCCTGGAATAC -3'

Sequencing Primer
(F):5'- CTTTGTGGCAACTACAATGGTC -3'
(R):5'- TTTAGACAAGATGAGTTACTGAGCAG -3'
Posted On 2021-08-31