Incidental Mutation 'IGL00574:Bmpr1a'
ID 4215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmpr1a
Ensembl Gene ENSMUSG00000021796
Gene Name bone morphogenetic protein receptor, type 1A
Synonyms 1110037I22Rik, BMPR-IA, Bmpr, ALK3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00574
Quality Score
Status
Chromosome 14
Chromosomal Location 34133018-34225335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34156376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 164 (I164V)
Ref Sequence ENSEMBL: ENSMUSP00000131984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280]
AlphaFold P36895
Predicted Effect probably benign
Transcript: ENSMUST00000049005
AA Change: I164V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: I164V

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 4.6e-14 PFAM
transmembrane domain 153 175 N/A INTRINSIC
GS 204 234 7.44e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165280
AA Change: I164V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: I164V

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 1.3e-14 PFAM
transmembrane domain 153 175 N/A INTRINSIC
GS 204 234 7.44e-13 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T C 1: 125,339,011 (GRCm39) Y109C probably damaging Het
Agap3 T A 5: 24,703,107 (GRCm39) L568Q probably damaging Het
Baiap2 T C 11: 119,897,234 (GRCm39) S530P probably damaging Het
Btaf1 A G 19: 36,947,330 (GRCm39) N473S probably benign Het
Egr4 T C 6: 85,489,487 (GRCm39) D191G probably damaging Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Grk4 T A 5: 34,852,162 (GRCm39) N135K probably benign Het
Hectd1 T C 12: 51,820,787 (GRCm39) N1134S probably benign Het
Macrod2 T G 2: 140,242,797 (GRCm39) M21R probably damaging Het
Mtx3 G T 13: 92,984,384 (GRCm39) Q188H possibly damaging Het
Otx1 T C 11: 21,946,794 (GRCm39) probably benign Het
Pcdhb8 T G 18: 37,489,423 (GRCm39) F26C probably damaging Het
Pdgfra T A 5: 75,341,708 (GRCm39) I647K probably damaging Het
Psapl1 C A 5: 36,362,975 (GRCm39) N522K probably benign Het
Rbm10 T A X: 20,516,931 (GRCm39) probably benign Het
Rbm10 G A X: 20,516,932 (GRCm39) probably benign Het
Ric1 A G 19: 29,572,762 (GRCm39) E734G probably damaging Het
Sec24c T C 14: 20,742,463 (GRCm39) V837A probably damaging Het
Shoc1 T A 4: 59,094,201 (GRCm39) R174S possibly damaging Het
Sohlh2 C T 3: 55,111,747 (GRCm39) probably benign Het
Tex10 G A 4: 48,469,937 (GRCm39) Q43* probably null Het
Tmem147 G A 7: 30,427,858 (GRCm39) R66* probably null Het
Tmem150c G T 5: 100,240,810 (GRCm39) H51N probably benign Het
Usp47 A T 7: 111,662,542 (GRCm39) K228M probably damaging Het
Other mutations in Bmpr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03100:Bmpr1a APN 14 34,163,164 (GRCm39) unclassified probably benign
R0329:Bmpr1a UTSW 14 34,151,734 (GRCm39) missense probably benign 0.03
R0330:Bmpr1a UTSW 14 34,151,734 (GRCm39) missense probably benign 0.03
R0411:Bmpr1a UTSW 14 34,137,834 (GRCm39) missense possibly damaging 0.58
R0537:Bmpr1a UTSW 14 34,165,769 (GRCm39) unclassified probably benign
R1707:Bmpr1a UTSW 14 34,147,098 (GRCm39) splice site probably benign
R1767:Bmpr1a UTSW 14 34,169,727 (GRCm39) critical splice donor site probably null
R1992:Bmpr1a UTSW 14 34,147,050 (GRCm39) missense probably damaging 1.00
R3757:Bmpr1a UTSW 14 34,156,624 (GRCm39) nonsense probably null
R4125:Bmpr1a UTSW 14 34,156,690 (GRCm39) missense probably benign 0.35
R5320:Bmpr1a UTSW 14 34,146,999 (GRCm39) missense probably damaging 1.00
R6956:Bmpr1a UTSW 14 34,163,132 (GRCm39) missense possibly damaging 0.90
R7254:Bmpr1a UTSW 14 34,136,720 (GRCm39) missense probably benign 0.03
R7267:Bmpr1a UTSW 14 34,165,836 (GRCm39) missense possibly damaging 0.47
R7270:Bmpr1a UTSW 14 34,163,082 (GRCm39) missense probably damaging 0.96
R8166:Bmpr1a UTSW 14 34,147,026 (GRCm39) missense probably damaging 1.00
R8348:Bmpr1a UTSW 14 34,136,759 (GRCm39) missense probably benign 0.24
R8448:Bmpr1a UTSW 14 34,136,759 (GRCm39) missense probably benign 0.24
R8948:Bmpr1a UTSW 14 34,163,148 (GRCm39) missense possibly damaging 0.69
R8950:Bmpr1a UTSW 14 34,163,148 (GRCm39) missense possibly damaging 0.69
R9246:Bmpr1a UTSW 14 34,156,664 (GRCm39) missense probably benign 0.00
R9362:Bmpr1a UTSW 14 34,156,360 (GRCm39) missense probably benign 0.01
R9647:Bmpr1a UTSW 14 34,136,694 (GRCm39) missense probably benign 0.07
Posted On 2012-04-20