Incidental Mutation 'R4922:Bmpr2'
ID 378660
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 042524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4922 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 59802721-59917240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59906583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 559 (T559A)
Ref Sequence ENSEMBL: ENSMUSP00000084701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087435]
AlphaFold O35607
Predicted Effect probably benign
Transcript: ENSMUST00000087435
AA Change: T559A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: T559A

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
Meta Mutation Damage Score 0.0706 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Atf7ip A T 6: 136,537,039 (GRCm39) T91S possibly damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Csf2rb T A 15: 78,230,667 (GRCm39) V470E probably benign Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snapc4 A G 2: 26,259,245 (GRCm39) V635A probably benign Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Wdr75 T C 1: 45,855,638 (GRCm39) F430L probably damaging Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T 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
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
R8770:Bmpr2 UTSW 1 59,884,684 (GRCm39) missense probably benign 0.00
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'- CAGTGGGACTTTGGAATCAGTG -3'
(R):5'- TCATCTGGGTATGGCATCTCAG -3'

Sequencing Primer
(F):5'- ACTTTGGAATCAGTGGTGTTTGC -3'
(R):5'- GCATCTCAGATATAGTGGTCATGCC -3'
Posted On 2016-04-15