Incidental Mutation 'IGL03100:Bmpr1a'
ID 418711
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 # IGL03100
Quality Score
Status
Chromosome 14
Chromosomal Location 34133018-34225335 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 34163164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280] [ENSMUST00000171343] [ENSMUST00000171551]
AlphaFold P36895
Predicted Effect probably benign
Transcript: ENSMUST00000049005
SMART Domains Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796

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
SMART Domains Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796

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
Predicted Effect probably benign
Transcript: ENSMUST00000171343
SMART Domains Protein: ENSMUSP00000126852
Gene: ENSMUSG00000021796

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171551
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,208,527 (GRCm39) R233S probably benign Het
Abcc9 A T 6: 142,640,270 (GRCm39) W73R probably damaging Het
Ago1 A G 4: 126,336,964 (GRCm39) V247A probably benign Het
Anpep T A 7: 79,486,109 (GRCm39) T538S probably benign Het
Asb14 A G 14: 26,625,329 (GRCm39) K228R probably benign Het
Atp6v0d2 C T 4: 19,910,586 (GRCm39) probably null Het
B3gat2 A T 1: 23,802,272 (GRCm39) D186V probably damaging Het
Carmil3 A G 14: 55,732,175 (GRCm39) D224G probably damaging Het
Cd6 T C 19: 10,770,303 (GRCm39) M463V probably benign Het
Clasp1 T C 1: 118,395,626 (GRCm39) I188T possibly damaging Het
Cldn17 G T 16: 88,303,489 (GRCm39) A80E probably damaging Het
Clptm1l A G 13: 73,760,509 (GRCm39) probably benign Het
Col6a5 A T 9: 105,814,512 (GRCm39) V500E unknown Het
Ctdspl2 C T 2: 121,809,394 (GRCm39) T115I probably benign Het
Dbh G T 2: 27,055,534 (GRCm39) A3S probably benign Het
Fgd4 A G 16: 16,295,383 (GRCm39) probably benign Het
Gm4952 T A 19: 12,602,083 (GRCm39) probably null Het
Grik4 A G 9: 42,461,751 (GRCm39) M551T probably damaging Het
Hecw2 T C 1: 53,870,815 (GRCm39) I1389V probably damaging Het
Hkdc1 T C 10: 62,253,608 (GRCm39) T58A probably benign Het
Kcnh2 T C 5: 24,527,682 (GRCm39) K890R probably damaging Het
Kif24 T C 4: 41,394,446 (GRCm39) H809R possibly damaging Het
Knl1 A G 2: 118,931,251 (GRCm39) E1989G probably damaging Het
Muc15 A G 2: 110,561,939 (GRCm39) D125G probably damaging Het
Ogdhl A T 14: 32,064,029 (GRCm39) M632L probably benign Het
Prkdc T C 16: 15,531,499 (GRCm39) I1374T probably benign Het
Psmd1 T A 1: 86,046,243 (GRCm39) N670K possibly damaging Het
Ryr1 T C 7: 28,804,018 (GRCm39) H590R probably damaging Het
Scara3 A C 14: 66,168,722 (GRCm39) H298Q probably damaging Het
Sirt3 T C 7: 140,445,030 (GRCm39) D256G probably damaging Het
Slc13a2 T C 11: 78,295,299 (GRCm39) Q158R probably damaging Het
Slco5a1 T A 1: 12,949,504 (GRCm39) T629S possibly damaging Het
Speer4f2 A G 5: 17,581,528 (GRCm39) K157E probably damaging Het
Srsf1 T A 11: 87,939,954 (GRCm39) D155E probably damaging Het
Tln2 C T 9: 67,203,019 (GRCm39) R534H probably damaging Het
Ttn A G 2: 76,591,992 (GRCm39) probably benign Het
Ube2m A G 7: 12,771,562 (GRCm39) L32P probably benign Het
Wdr24 T A 17: 26,044,681 (GRCm39) F179I possibly damaging Het
Zfp961 T C 8: 72,721,754 (GRCm39) *69Q probably null Het
Other mutations in Bmpr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Bmpr1a APN 14 34,156,376 (GRCm39) missense 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 2016-08-02