Incidental Mutation 'IGL00959:Bmpr2'
ID26719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmpr2
Ensembl Gene ENSMUSG00000067336
Gene Namebone morphogenetic protein receptor, type II (serine/threonine kinase)
Synonyms2610024H22Rik, BMPRII, BMPR-II, BMP-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00959
Quality Score
Status
Chromosome1
Chromosomal Location59763400-59879014 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59815315 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 108 (I108F)
Ref Sequence ENSEMBL: ENSMUSP00000084701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087435]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087435
AA Change: I108F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: I108F

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
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chchd3 A G 6: 32,968,253 V106A probably benign Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Col6a2 T A 10: 76,614,534 I188F probably damaging Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilvbl G A 10: 78,583,905 D548N probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Mrpl52 T C 14: 54,427,037 V11A possibly damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Tgfb2 A G 1: 186,704,587 V63A probably benign Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Bmpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Bmpr2 APN 1 59813677 missense probably damaging 1.00
IGL02281:Bmpr2 APN 1 59868344 missense probably damaging 1.00
IGL02531:Bmpr2 APN 1 59845714 splice site probably null
IGL03114:Bmpr2 APN 1 59867444 missense probably damaging 1.00
R0114:Bmpr2 UTSW 1 59815340 missense probably damaging 1.00
R0145:Bmpr2 UTSW 1 59867580 frame shift probably null
R0423:Bmpr2 UTSW 1 59868510 missense probably benign
R0480:Bmpr2 UTSW 1 59845659 missense probably damaging 1.00
R0556:Bmpr2 UTSW 1 59815328 missense probably damaging 1.00
R0597:Bmpr2 UTSW 1 59841425 splice site probably benign
R1167:Bmpr2 UTSW 1 59859304 missense probably damaging 1.00
R1537:Bmpr2 UTSW 1 59868126 missense probably benign 0.31
R1769:Bmpr2 UTSW 1 59868361 missense probably damaging 1.00
R1946:Bmpr2 UTSW 1 59868397 missense possibly damaging 0.83
R1972:Bmpr2 UTSW 1 59813603 missense possibly damaging 0.55
R4524:Bmpr2 UTSW 1 59867412 missense probably benign 0.00
R4558:Bmpr2 UTSW 1 59845692 missense probably damaging 0.99
R4667:Bmpr2 UTSW 1 59867716 missense probably damaging 1.00
R4668:Bmpr2 UTSW 1 59867716 missense probably damaging 1.00
R4669:Bmpr2 UTSW 1 59867716 missense probably damaging 1.00
R4868:Bmpr2 UTSW 1 59870456 missense probably benign 0.03
R4922:Bmpr2 UTSW 1 59867424 missense probably benign
R5015:Bmpr2 UTSW 1 59851224 missense probably damaging 1.00
R5421:Bmpr2 UTSW 1 59870418 missense possibly damaging 0.96
R5808:Bmpr2 UTSW 1 59867401 missense probably benign 0.09
R6057:Bmpr2 UTSW 1 59842818 missense probably benign 0.00
R6228:Bmpr2 UTSW 1 59867436 missense probably benign 0.11
R6449:Bmpr2 UTSW 1 59867437 missense probably damaging 0.99
R6475:Bmpr2 UTSW 1 59868344 missense probably damaging 1.00
R6754:Bmpr2 UTSW 1 59870280 missense probably damaging 1.00
R7080:Bmpr2 UTSW 1 59867683 missense probably benign 0.00
R7410:Bmpr2 UTSW 1 59868493 missense probably benign
R7425:Bmpr2 UTSW 1 59867351 missense probably benign 0.12
R8027:Bmpr2 UTSW 1 59867803 missense probably damaging 1.00
R8032:Bmpr2 UTSW 1 59867343 missense probably benign 0.03
R8117:Bmpr2 UTSW 1 59847093 missense probably damaging 0.99
R8142:Bmpr2 UTSW 1 59870306 missense probably damaging 1.00
Z1176:Bmpr2 UTSW 1 59847167 missense not run
Z1177:Bmpr2 UTSW 1 59847167 missense not run
Posted On2013-04-17