Incidental Mutation 'R8770:Bmpr2'
ID 664322
Institutional Source Beutler Lab
Gene Symbol Bmpr2
Ensembl Gene ENSMUSG00000067336
Gene Name bone morphogenetic protein receptor type 2
Synonyms BMPR-II, BMP-2, BMPRII, 2610024H22Rik
MMRRC Submission 068625-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8770 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 59802721-59917240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59884684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 223 (D223E)
Ref Sequence ENSEMBL: ENSMUSP00000084701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087435]
AlphaFold O35607
Predicted Effect probably benign
Transcript: ENSMUST00000087435
AA Change: D223E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: D223E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Activin_recp 33 131 6.9e-17 PFAM
low complexity region 132 142 N/A INTRINSIC
transmembrane domain 152 174 N/A INTRINSIC
Pfam:Pkinase 203 501 6.6e-33 PFAM
Pfam:Pkinase_Tyr 203 501 1.3e-29 PFAM
low complexity region 545 558 N/A INTRINSIC
low complexity region 603 628 N/A INTRINSIC
low complexity region 694 710 N/A INTRINSIC
low complexity region 901 908 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type II receptor that binds extracellular BMPs and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important during embryonic development. Mutations in this gene can cause pulmonary hypertension. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,104,199 (GRCm39) probably null Het
Aox1 A T 1: 58,378,763 (GRCm39) K1004M probably benign Het
Atn1 C T 6: 124,722,601 (GRCm39) probably null Het
Atp8b4 T C 2: 126,184,915 (GRCm39) Y916C probably damaging Het
Bicd1 T C 6: 149,420,448 (GRCm39) L766S probably damaging Het
Bpifc T G 10: 85,801,129 (GRCm39) R406S probably damaging Het
Ccl6 A G 11: 83,479,658 (GRCm39) I115T possibly damaging Het
Cdcp1 A T 9: 123,006,926 (GRCm39) I607N possibly damaging Het
Cdyl2 T C 8: 117,321,822 (GRCm39) Y235C probably damaging Het
Clns1a A G 7: 97,363,117 (GRCm39) Q163R probably benign Het
Cntn3 T A 6: 102,254,277 (GRCm39) M222L possibly damaging Het
Cpn1 A G 19: 43,952,208 (GRCm39) V358A probably damaging Het
Dchs1 G A 7: 105,420,945 (GRCm39) R492W probably damaging Het
Dmxl2 T C 9: 54,311,298 (GRCm39) T1808A probably benign Het
Dnah10 A G 5: 124,852,410 (GRCm39) I1880V possibly damaging Het
Dnai3 T C 3: 145,752,298 (GRCm39) T793A probably benign Het
Dscam T C 16: 96,456,106 (GRCm39) E1274G possibly damaging Het
Dtwd1 A G 2: 125,996,727 (GRCm39) T71A probably damaging Het
Dusp4 T A 8: 35,274,938 (GRCm39) M19K probably benign Het
Fbxo39 T C 11: 72,209,285 (GRCm39) F382L probably damaging Het
Fbxw20 A T 9: 109,046,596 (GRCm39) C455S probably benign Het
Fcmr T A 1: 130,803,799 (GRCm39) V201E probably benign Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gpr156 A G 16: 37,824,974 (GRCm39) E397G possibly damaging Het
Gzmf A T 14: 56,443,951 (GRCm39) V73D probably damaging Het
Hrob A G 11: 102,145,976 (GRCm39) N84S probably benign Het
Laptm4b T C 15: 34,258,843 (GRCm39) V39A possibly damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Mylk3 T A 8: 86,091,460 (GRCm39) E115V probably damaging Het
Myo6 A G 9: 80,171,481 (GRCm39) E494G unknown Het
Myo7b C T 18: 32,114,124 (GRCm39) D1076N probably benign Het
Neurl1b A G 17: 26,650,887 (GRCm39) D53G probably damaging Het
Noc4l A G 5: 110,796,758 (GRCm39) L508P possibly damaging Het
Nup210l C A 3: 90,025,850 (GRCm39) F157L probably damaging Het
Ogdh T C 11: 6,305,336 (GRCm39) Y959H probably damaging Het
Or13c7d T G 4: 43,770,813 (GRCm39) N66T probably damaging Het
Or4a73 A G 2: 89,421,171 (GRCm39) M96T probably benign Het
Pik3ap1 A G 19: 41,316,599 (GRCm39) Y264H possibly damaging Het
Plb1 T C 5: 32,404,853 (GRCm39) Y4H unknown Het
Rad21 A G 15: 51,831,749 (GRCm39) I444T probably benign Het
Recql5 T C 11: 115,787,943 (GRCm39) I459V probably benign Het
Scaf1 T C 7: 44,656,129 (GRCm39) T917A unknown Het
Sdc4 C T 2: 164,270,822 (GRCm39) V146I probably damaging Het
Serpina6 T C 12: 103,620,198 (GRCm39) S184G probably benign Het
Shkbp1 C A 7: 27,051,311 (GRCm39) R218S possibly damaging Het
Slc17a3 A G 13: 24,039,607 (GRCm39) D255G Het
Slc7a2 T G 8: 41,352,267 (GRCm39) V110G probably damaging Het
Slf1 A C 13: 77,194,766 (GRCm39) V853G probably damaging Het
Smarcad1 T C 6: 65,029,718 (GRCm39) V102A probably benign Het
Sobp T C 10: 43,036,788 (GRCm39) K50R probably damaging Het
Spink10 A T 18: 62,786,532 (GRCm39) R47S probably benign Het
Sspo T A 6: 48,451,206 (GRCm39) F2720Y probably null Het
Tdrkh T A 3: 94,336,440 (GRCm39) V459D probably damaging Het
Tent5a A G 9: 85,208,803 (GRCm39) Y7H probably benign Het
Tlcd2 T A 11: 75,360,630 (GRCm39) D224E probably damaging Het
Tln2 T A 9: 67,230,304 (GRCm39) Q87L probably benign Het
Tmem131 A T 1: 36,838,186 (GRCm39) probably benign Het
Tmem63a G A 1: 180,789,961 (GRCm39) G378R probably benign Het
Trank1 C A 9: 111,219,892 (GRCm39) Q2210K probably benign Het
Trim24 T A 6: 37,934,435 (GRCm39) probably benign Het
Trim37 T A 11: 87,050,675 (GRCm39) I238N probably damaging Het
Vps39 A T 2: 120,153,548 (GRCm39) D675E probably benign Het
Zfp229 T A 17: 21,964,795 (GRCm39) C342S probably damaging Het
Zfp759 A G 13: 67,288,417 (GRCm39) H656R probably damaging Het
Zfp994 T C 17: 22,419,980 (GRCm39) Y323C probably damaging Het
Other mutations in Bmpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Bmpr2 APN 1 59,854,474 (GRCm39) missense possibly damaging 0.88
IGL01366:Bmpr2 APN 1 59,852,836 (GRCm39) missense probably damaging 1.00
IGL02281:Bmpr2 APN 1 59,907,503 (GRCm39) missense probably damaging 1.00
IGL02531:Bmpr2 APN 1 59,884,873 (GRCm39) splice site probably null
IGL03114:Bmpr2 APN 1 59,906,603 (GRCm39) missense probably damaging 1.00
R0114:Bmpr2 UTSW 1 59,854,499 (GRCm39) missense probably damaging 1.00
R0145:Bmpr2 UTSW 1 59,906,739 (GRCm39) frame shift probably null
R0423:Bmpr2 UTSW 1 59,907,669 (GRCm39) missense probably benign
R0480:Bmpr2 UTSW 1 59,884,818 (GRCm39) missense probably damaging 1.00
R0556:Bmpr2 UTSW 1 59,854,487 (GRCm39) missense probably damaging 1.00
R0597:Bmpr2 UTSW 1 59,880,584 (GRCm39) splice site probably benign
R1167:Bmpr2 UTSW 1 59,898,463 (GRCm39) missense probably damaging 1.00
R1537:Bmpr2 UTSW 1 59,907,285 (GRCm39) missense probably benign 0.31
R1769:Bmpr2 UTSW 1 59,907,520 (GRCm39) missense probably damaging 1.00
R1946:Bmpr2 UTSW 1 59,907,556 (GRCm39) missense possibly damaging 0.83
R1972:Bmpr2 UTSW 1 59,852,762 (GRCm39) missense possibly damaging 0.55
R4524:Bmpr2 UTSW 1 59,906,571 (GRCm39) missense probably benign 0.00
R4558:Bmpr2 UTSW 1 59,884,851 (GRCm39) missense probably damaging 0.99
R4667:Bmpr2 UTSW 1 59,906,875 (GRCm39) missense probably damaging 1.00
R4668:Bmpr2 UTSW 1 59,906,875 (GRCm39) missense probably damaging 1.00
R4669:Bmpr2 UTSW 1 59,906,875 (GRCm39) missense probably damaging 1.00
R4868:Bmpr2 UTSW 1 59,909,615 (GRCm39) missense probably benign 0.03
R4922:Bmpr2 UTSW 1 59,906,583 (GRCm39) missense probably benign
R5015:Bmpr2 UTSW 1 59,890,383 (GRCm39) missense probably damaging 1.00
R5421:Bmpr2 UTSW 1 59,909,577 (GRCm39) missense possibly damaging 0.96
R5808:Bmpr2 UTSW 1 59,906,560 (GRCm39) missense probably benign 0.09
R6057:Bmpr2 UTSW 1 59,881,977 (GRCm39) missense probably benign 0.00
R6228:Bmpr2 UTSW 1 59,906,595 (GRCm39) missense probably benign 0.11
R6449:Bmpr2 UTSW 1 59,906,596 (GRCm39) missense probably damaging 0.99
R6475:Bmpr2 UTSW 1 59,907,503 (GRCm39) missense probably damaging 1.00
R6754:Bmpr2 UTSW 1 59,909,439 (GRCm39) missense probably damaging 1.00
R7080:Bmpr2 UTSW 1 59,906,842 (GRCm39) missense probably benign 0.00
R7410:Bmpr2 UTSW 1 59,907,652 (GRCm39) missense probably benign
R7425:Bmpr2 UTSW 1 59,906,510 (GRCm39) missense probably benign 0.12
R8027:Bmpr2 UTSW 1 59,906,962 (GRCm39) missense probably damaging 1.00
R8032:Bmpr2 UTSW 1 59,906,502 (GRCm39) missense probably benign 0.03
R8117:Bmpr2 UTSW 1 59,886,252 (GRCm39) missense probably damaging 0.99
R8142:Bmpr2 UTSW 1 59,909,465 (GRCm39) missense probably damaging 1.00
R8166:Bmpr2 UTSW 1 59,906,740 (GRCm39) missense probably damaging 0.98
R8376:Bmpr2 UTSW 1 59,906,515 (GRCm39) missense probably damaging 0.99
R8419:Bmpr2 UTSW 1 59,906,515 (GRCm39) missense probably damaging 0.99
R8949:Bmpr2 UTSW 1 59,906,860 (GRCm39) missense possibly damaging 0.52
R9016:Bmpr2 UTSW 1 59,854,460 (GRCm39) missense probably damaging 0.99
R9296:Bmpr2 UTSW 1 59,906,502 (GRCm39) missense probably damaging 0.97
R9469:Bmpr2 UTSW 1 59,881,928 (GRCm39) missense probably benign
R9773:Bmpr2 UTSW 1 59,907,497 (GRCm39) missense probably damaging 1.00
Z1176:Bmpr2 UTSW 1 59,886,326 (GRCm39) missense not run
Z1177:Bmpr2 UTSW 1 59,886,326 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- CAGAGCTGCTGTATATCATGGG -3'
(R):5'- TGATGAGACAAGGTGCTTACAC -3'

Sequencing Primer
(F):5'- AGCTGCTGTATATCATGGGGAATTG -3'
(R):5'- TTGGGATAATACTCCATCACAAGC -3'
Posted On 2021-03-08