Incidental Mutation 'R5320:Bmpr1a'
ID 406078
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 042903-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5320 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 34133018-34225335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34146999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 258 (V258M)
Ref Sequence ENSEMBL: ENSMUSP00000131984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280]
AlphaFold P36895
Predicted Effect probably damaging
Transcript: ENSMUST00000049005
AA Change: V258M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: V258M

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 damaging
Transcript: ENSMUST00000165280
AA Change: V258M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: V258M

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,526,541 (GRCm39) I581N probably damaging Het
Abcb10 A G 8: 124,697,763 (GRCm39) F187S probably benign Het
Actl11 T A 9: 107,808,203 (GRCm39) V842E possibly damaging Het
Akap12 A G 10: 4,307,291 (GRCm39) D1367G probably benign Het
Aoc1l1 T A 6: 48,952,474 (GRCm39) L133Q probably damaging Het
Aoc1l3 T A 6: 48,964,509 (GRCm39) F172L probably benign Het
AU040320 A T 4: 126,717,509 (GRCm39) H362L possibly damaging Het
Bptf T A 11: 106,972,193 (GRCm39) K892* probably null Het
Cap2 A G 13: 46,801,840 (GRCm39) *422W probably null Het
Cars2 G T 8: 11,567,854 (GRCm39) H414N probably benign Het
Ccnt1 A C 15: 98,442,124 (GRCm39) S381R probably benign Het
Cdyl2 A T 8: 117,321,794 (GRCm39) C244* probably null Het
Cers2 A G 3: 95,228,305 (GRCm39) E115G probably null Het
Cpt1b G A 15: 89,303,477 (GRCm39) P553S probably benign Het
Cuedc1 A G 11: 88,068,136 (GRCm39) E128G probably damaging Het
Dll4 T A 2: 119,156,968 (GRCm39) V80D probably damaging Het
Dop1b T C 16: 93,536,874 (GRCm39) L113P probably damaging Het
Fam98a A G 17: 75,845,810 (GRCm39) I312T probably damaging Het
Gnrhr T G 5: 86,345,473 (GRCm39) K71T possibly damaging Het
Gtf3c3 A T 1: 54,445,032 (GRCm39) L674Q probably damaging Het
Hipk2 A T 6: 38,795,212 (GRCm39) H352Q probably damaging Het
Hivep1 T C 13: 42,313,115 (GRCm39) V1785A probably damaging Het
Hspa4 A T 11: 53,153,810 (GRCm39) I687N probably damaging Het
Krt18 A T 15: 101,936,955 (GRCm39) D81V probably damaging Het
Lama3 A C 18: 12,685,912 (GRCm39) D1142A probably damaging Het
Lnpep A G 17: 17,766,727 (GRCm39) I713T possibly damaging Het
Man2b2 T A 5: 36,967,677 (GRCm39) Y897F probably damaging Het
Muc5b A T 7: 141,412,738 (GRCm39) I1895F unknown Het
Myh8 G A 11: 67,177,089 (GRCm39) V414I probably damaging Het
Myo1d A T 11: 80,575,149 (GRCm39) probably null Het
Nav2 A T 7: 49,141,121 (GRCm39) M889L probably benign Het
Oc90 C T 15: 65,754,457 (GRCm39) G236D probably benign Het
Or13a27 A G 7: 139,925,548 (GRCm39) V118A probably benign Het
Pak4 A G 7: 28,267,631 (GRCm39) I11T probably damaging Het
Papss2 T C 19: 32,615,787 (GRCm39) I173T probably damaging Het
Pcsk9 A T 4: 106,320,988 (GRCm39) D40E probably benign Het
Pdzrn3 G C 6: 101,128,064 (GRCm39) H867Q probably damaging Het
Plcb1 A T 2: 135,094,696 (GRCm39) I174F possibly damaging Het
Pom121l2 G A 13: 22,166,015 (GRCm39) W95* probably null Het
Prcp A T 7: 92,577,843 (GRCm39) T336S probably benign Het
Prdm11 A C 2: 92,843,226 (GRCm39) S78A probably benign Het
Ralgds T C 2: 28,435,224 (GRCm39) I405T probably damaging Het
Rasgrf1 A G 9: 89,902,478 (GRCm39) R1208G probably damaging Het
Rasgrp2 T A 19: 6,458,864 (GRCm39) probably null Het
Rb1 A T 14: 73,450,566 (GRCm39) Y599* probably null Het
Rnf141 A T 7: 110,433,010 (GRCm39) F62L probably damaging Het
Rsl24d1 T A 9: 73,023,698 (GRCm39) F292I possibly damaging Het
Scn10a C T 9: 119,477,175 (GRCm39) V736I probably damaging Het
Sim2 A T 16: 93,905,598 (GRCm39) T141S probably benign Het
Slc6a15 G T 10: 103,244,067 (GRCm39) V436L probably damaging Het
Smarca2 T C 19: 26,668,772 (GRCm39) S924P probably damaging Het
Tacc1 T C 8: 25,671,881 (GRCm39) E449G probably benign Het
Tlr3 A T 8: 45,852,137 (GRCm39) N253K possibly damaging Het
Tmem198 G A 1: 75,456,500 (GRCm39) A82T probably benign Het
Tom1l2 A T 11: 60,133,648 (GRCm39) L54* probably null Het
Trav12-2 A G 14: 53,854,356 (GRCm39) Y110C probably benign Het
Trdn T A 10: 33,209,247 (GRCm39) probably null Het
Trim36 G T 18: 46,300,565 (GRCm39) P690Q probably damaging Het
Trpc4 A T 3: 54,206,599 (GRCm39) M600L probably damaging Het
Trpm2 T A 10: 77,759,355 (GRCm39) Q1143L probably benign Het
Usp34 T A 11: 23,283,739 (GRCm39) D144E probably benign Het
Vps18 A T 2: 119,127,858 (GRCm39) R894* probably null Het
Vwa1 A G 4: 155,855,369 (GRCm39) V248A probably benign Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A 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
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
Predicted Primers PCR Primer
(F):5'- TTTGAATCCACATGCACACG -3'
(R):5'- CCAGAATACATGTTCATTGCTGC -3'

Sequencing Primer
(F):5'- CACACGGCAGGCTATCC -3'
(R):5'- CCATAAACCTTGGAGCTATTTGG -3'
Posted On 2016-07-22