Incidental Mutation 'R8448:Bmpr1a'
ID 654629
Institutional Source Beutler Lab
Gene Symbol Bmpr1a
Ensembl Gene ENSMUSG00000021796
Gene Name bone morphogenetic protein receptor, type 1A
Synonyms 1110037I22Rik, BMPR-IA, Bmpr, ALK3
MMRRC Submission 067828-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8448 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 34133018-34225335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34136759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 477 (K477N)
Ref Sequence ENSEMBL: ENSMUSP00000035900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280]
AlphaFold P36895
Predicted Effect probably benign
Transcript: ENSMUST00000049005
AA Change: K477N

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: K477N

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: K477N

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: K477N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,022 (GRCm39) probably null Het
Adamts6 T A 13: 104,616,027 (GRCm39) C1030S probably damaging Het
Adamtsl3 C A 7: 82,253,007 (GRCm39) T1527K possibly damaging Het
Akap9 G A 5: 3,998,897 (GRCm39) probably null Het
Ankle2 C A 5: 110,389,909 (GRCm39) P457T possibly damaging Het
Ankrd7 A G 6: 18,868,007 (GRCm39) N91S probably damaging Het
Ascc3 C A 10: 50,494,173 (GRCm39) Q203K probably benign Het
Baz2b A T 2: 59,742,137 (GRCm39) D61E Het
Cacna1d T C 14: 29,824,364 (GRCm39) I1040V probably damaging Het
Castor2 T C 5: 134,166,955 (GRCm39) F304L possibly damaging Het
Cdkn2a C A 4: 89,200,291 (GRCm39) V20L possibly damaging Het
Chd5 A G 4: 152,445,173 (GRCm39) S385G probably damaging Het
Cntrob A G 11: 69,190,679 (GRCm39) F46L unknown Het
Cth T C 3: 157,630,657 (GRCm39) D4G probably benign Het
Cyld C T 8: 89,456,197 (GRCm39) H416Y probably damaging Het
Dennd6a C A 14: 26,328,098 (GRCm39) H264Q possibly damaging Het
Dnah1 T C 14: 31,015,682 (GRCm39) Y1672C probably damaging Het
Dnah8 A G 17: 30,892,814 (GRCm39) I800V probably benign Het
Esrp2 A G 8: 106,858,853 (GRCm39) Y595H probably damaging Het
F12 T A 13: 55,566,301 (GRCm39) Y497F probably benign Het
Fggy A G 4: 95,732,427 (GRCm39) T473A probably benign Het
Garre1 A T 7: 33,984,569 (GRCm39) L18Q probably damaging Het
Gstt2 C A 10: 75,668,526 (GRCm39) R107L probably damaging Het
Hectd4 A T 5: 121,358,319 (GRCm39) probably benign Het
Helb A G 10: 119,938,791 (GRCm39) F561S probably damaging Het
Ints2 T C 11: 86,146,249 (GRCm39) T120A probably benign Het
Kdm5d G A Y: 914,056 (GRCm39) R331H probably benign Het
Krt6b A G 15: 101,586,455 (GRCm39) Y345H probably damaging Het
Limch1 A G 5: 67,159,825 (GRCm39) K418E probably damaging Het
Lrrc37 T A 11: 103,511,726 (GRCm39) T81S unknown Het
Med17 C T 9: 15,173,735 (GRCm39) probably null Het
Met A T 6: 17,571,799 (GRCm39) I1373F probably benign Het
Naip6 T A 13: 100,436,894 (GRCm39) Q543L possibly damaging Het
Nat9 T C 11: 115,075,902 (GRCm39) T40A probably damaging Het
Notch4 A T 17: 34,805,763 (GRCm39) probably null Het
Ogdh A G 11: 6,292,619 (GRCm39) N455S probably damaging Het
Or52k2 C A 7: 102,254,207 (GRCm39) F215L probably benign Het
Pde4a T C 9: 21,117,534 (GRCm39) F599L probably benign Het
Pga5 T C 19: 10,649,173 (GRCm39) Y249C probably damaging Het
Plekha8 A T 6: 54,607,539 (GRCm39) K382M probably damaging Het
Plekhd1 A T 12: 80,753,149 (GRCm39) E119V probably damaging Het
Pnp A T 14: 51,185,356 (GRCm39) H20L probably benign Het
Polq A T 16: 36,837,559 (GRCm39) probably null Het
Psma3 T G 12: 71,035,250 (GRCm39) I177R probably damaging Het
Ptpn3 A G 4: 57,240,784 (GRCm39) probably null Het
Ptprt A T 2: 161,400,806 (GRCm39) L1077Q probably damaging Het
Ralgps2 A T 1: 156,651,744 (GRCm39) probably null Het
Rbm47 A T 5: 66,184,573 (GRCm39) M10K possibly damaging Het
Rere A G 4: 150,703,653 (GRCm39) D186G probably damaging Het
Rpl24 T C 16: 55,787,453 (GRCm39) S38P probably damaging Het
Slco1a1 A T 6: 141,885,787 (GRCm39) F79L possibly damaging Het
Sorl1 T A 9: 41,903,041 (GRCm39) D1551V probably benign Het
Sos1 C A 17: 80,741,548 (GRCm39) M412I probably benign Het
Spast G A 17: 74,666,293 (GRCm39) V209I probably benign Het
Spindoc G T 19: 7,335,769 (GRCm39) Q340K possibly damaging Het
Tlr6 T C 5: 65,111,185 (GRCm39) Y574C probably damaging Het
Tnrc6a A G 7: 122,791,346 (GRCm39) N1748S possibly damaging Het
Trbv13-2 A T 6: 41,098,474 (GRCm39) K16N probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Usp24 A G 4: 106,225,933 (GRCm39) D659G possibly damaging Het
Vmn2r88 T A 14: 51,656,253 (GRCm39) C821S probably damaging Het
Whamm T A 7: 81,224,295 (GRCm39) V197D probably damaging Het
Zfp777 A G 6: 48,006,101 (GRCm39) F431S probably damaging Het
Other mutations in Bmpr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Bmpr1a APN 14 34,156,376 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAAGTGTCTTCTTGATTCTCAAAGC -3'
(R):5'- TCCACAATTCAGTGAGAAATGCTG -3'

Sequencing Primer
(F):5'- GGATTATGGGCCCAACATTCTGAC -3'
(R):5'- CTGTATGTCAACTGAGAGTAGTCC -3'
Posted On 2020-10-20