Incidental Mutation 'R6826:Bmpr1b'
ID 534149
Institutional Source Beutler Lab
Gene Symbol Bmpr1b
Ensembl Gene ENSMUSG00000052430
Gene Name bone morphogenetic protein receptor, type 1B
Synonyms Acvrlk6, Alk6, CFK-43a, BMPR-IB
MMRRC Submission 045019-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R6826 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141563167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 259 (L259Q)
Ref Sequence ENSEMBL: ENSMUSP00000101839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect probably damaging
Transcript: ENSMUST00000029948
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: L259Q

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.6e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000098568
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: L259Q

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.2e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000106230
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: L259Q

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.6e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000106232
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: L259Q

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.2e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131273
SMART Domains Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430

DomainStartEndE-ValueType
PDB:3EVS|C 13 47 1e-18 PDB
SCOP:d1es7b_ 28 47 2e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 I receptor, 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 in skeletal and bone development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,107,431 (GRCm39) N728S probably benign Het
Acaca T C 11: 84,086,362 (GRCm39) S63P probably damaging Het
Akr1c12 A G 13: 4,325,733 (GRCm39) V120A probably benign Het
Ap4b1 G A 3: 103,720,224 (GRCm39) probably null Het
Apol7e T A 15: 77,602,491 (GRCm39) V363D probably damaging Het
Cdhr17 A G 5: 17,013,292 (GRCm39) I219V unknown Het
Clca3a2 T C 3: 144,523,815 (GRCm39) T57A possibly damaging Het
Copb1 T C 7: 113,825,954 (GRCm39) T677A probably benign Het
Crhr2 T C 6: 55,094,725 (GRCm39) probably benign Het
Cyp11a1 A G 9: 57,932,370 (GRCm39) T228A probably damaging Het
Dnah1 T C 14: 31,008,247 (GRCm39) I2084V probably benign Het
Dnajc17 T C 2: 119,011,408 (GRCm39) K174R probably damaging Het
Dnm2 T A 9: 21,415,767 (GRCm39) Y646* probably null Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Elmo3 A T 8: 106,033,378 (GRCm39) I115F probably damaging Het
Elmod1 T C 9: 53,826,883 (GRCm39) T268A probably benign Het
F10 T C 8: 13,096,165 (GRCm39) probably null Het
Fmo4 C T 1: 162,631,338 (GRCm39) V210M probably damaging Het
Foxred2 G T 15: 77,831,285 (GRCm39) H509Q probably benign Het
Hyal6 A G 6: 24,734,371 (GRCm39) I101M probably damaging Het
Igkv5-48 T C 6: 69,703,584 (GRCm39) Y107C probably damaging Het
Jag1 A G 2: 136,958,095 (GRCm39) probably null Het
Leng8 T A 7: 4,148,319 (GRCm39) V697E probably damaging Het
Mdga1 T C 17: 30,189,000 (GRCm39) N21S unknown Het
Midn T A 10: 79,989,961 (GRCm39) C126* probably null Het
Mlh3 A T 12: 85,292,598 (GRCm39) V1303E probably benign Het
Myh4 T C 11: 67,137,357 (GRCm39) L526P probably damaging Het
Or10ag55-ps1 G A 2: 87,114,672 (GRCm39) E13K probably benign Het
Or5b3 T A 19: 13,388,452 (GRCm39) V173E probably benign Het
Pde6b C T 5: 108,578,458 (GRCm39) R799* probably null Het
Pde9a A G 17: 31,685,414 (GRCm39) D382G probably benign Het
Pdrg1 A C 2: 152,852,176 (GRCm39) probably null Het
Peg10 C CATCAGGATG 6: 4,756,353 (GRCm39) probably benign Het
Ppp1r3a C A 6: 14,718,980 (GRCm39) E645* probably null Het
Prrc2b A G 2: 32,112,300 (GRCm39) probably null Het
Ptprb T A 10: 116,153,277 (GRCm39) M578K probably benign Het
Rasgrp3 G T 17: 75,810,241 (GRCm39) V314F probably damaging Het
Rps9 C A 7: 3,708,775 (GRCm39) D84E probably benign Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Serpina1e A G 12: 103,915,397 (GRCm39) F270L probably benign Het
Slc24a5 G A 2: 124,910,778 (GRCm39) V70I probably benign Het
Slfn14 C A 11: 83,172,644 (GRCm39) probably null Het
Smcr8 G T 11: 60,669,688 (GRCm39) D279Y possibly damaging Het
Snx16 A T 3: 10,503,148 (GRCm39) V33D probably damaging Het
Tesc A G 5: 118,194,483 (GRCm39) T131A probably damaging Het
Tnfaip8l3 G T 9: 53,934,783 (GRCm39) T64K possibly damaging Het
Vmn2r1 T A 3: 64,012,567 (GRCm39) Y809* probably null Het
Vmn2r25 A G 6: 123,800,071 (GRCm39) V757A probably damaging Het
Vmn2r3 A T 3: 64,182,327 (GRCm39) Y457* probably null Het
Wee1 T C 7: 109,723,870 (GRCm39) probably null Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zfp541 A G 7: 15,812,907 (GRCm39) E520G probably damaging Het
Zfp579 G T 7: 4,997,425 (GRCm39) A162D probably benign Het
Zfp811 A G 17: 33,016,762 (GRCm39) F425S probably damaging Het
Other mutations in Bmpr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Bmpr1b APN 3 141,577,099 (GRCm39) missense probably damaging 1.00
IGL01394:Bmpr1b APN 3 141,568,742 (GRCm39) critical splice donor site probably null
IGL02078:Bmpr1b APN 3 141,576,498 (GRCm39) missense possibly damaging 0.63
IGL02315:Bmpr1b APN 3 141,563,290 (GRCm39) missense probably damaging 1.00
IGL02600:Bmpr1b APN 3 141,546,488 (GRCm39) missense probably damaging 1.00
IGL02709:Bmpr1b APN 3 141,562,314 (GRCm39) missense probably damaging 1.00
IGL02972:Bmpr1b APN 3 141,576,519 (GRCm39) missense probably benign 0.00
IGL03305:Bmpr1b APN 3 141,548,785 (GRCm39) splice site probably benign
PIT4366001:Bmpr1b UTSW 3 141,586,224 (GRCm39) missense probably benign
R0026:Bmpr1b UTSW 3 141,576,494 (GRCm39) missense probably benign 0.00
R0026:Bmpr1b UTSW 3 141,576,494 (GRCm39) missense probably benign 0.00
R0242:Bmpr1b UTSW 3 141,546,437 (GRCm39) missense probably damaging 1.00
R0242:Bmpr1b UTSW 3 141,546,437 (GRCm39) missense probably damaging 1.00
R0463:Bmpr1b UTSW 3 141,563,191 (GRCm39) missense possibly damaging 0.53
R0880:Bmpr1b UTSW 3 141,576,557 (GRCm39) nonsense probably null
R1449:Bmpr1b UTSW 3 141,577,134 (GRCm39) missense possibly damaging 0.79
R1815:Bmpr1b UTSW 3 141,586,124 (GRCm39) missense probably benign 0.03
R1852:Bmpr1b UTSW 3 141,563,163 (GRCm39) critical splice donor site probably null
R1971:Bmpr1b UTSW 3 141,563,333 (GRCm39) missense probably damaging 1.00
R2064:Bmpr1b UTSW 3 141,576,568 (GRCm39) missense probably benign 0.00
R2299:Bmpr1b UTSW 3 141,550,963 (GRCm39) missense probably damaging 1.00
R2912:Bmpr1b UTSW 3 141,586,139 (GRCm39) missense probably benign 0.00
R4899:Bmpr1b UTSW 3 141,546,444 (GRCm39) missense probably damaging 1.00
R4960:Bmpr1b UTSW 3 141,576,546 (GRCm39) missense probably damaging 1.00
R4970:Bmpr1b UTSW 3 141,550,948 (GRCm39) missense probably damaging 1.00
R5331:Bmpr1b UTSW 3 141,562,176 (GRCm39) missense probably damaging 1.00
R5607:Bmpr1b UTSW 3 141,563,283 (GRCm39) missense possibly damaging 0.70
R5608:Bmpr1b UTSW 3 141,563,283 (GRCm39) missense possibly damaging 0.70
R5829:Bmpr1b UTSW 3 141,550,918 (GRCm39) missense probably benign 0.00
R5855:Bmpr1b UTSW 3 141,577,146 (GRCm39) missense possibly damaging 0.76
R5933:Bmpr1b UTSW 3 141,577,128 (GRCm39) makesense probably null
R6310:Bmpr1b UTSW 3 141,570,297 (GRCm39) missense probably damaging 0.97
R6469:Bmpr1b UTSW 3 141,562,222 (GRCm39) missense possibly damaging 0.95
R7167:Bmpr1b UTSW 3 141,568,841 (GRCm39) missense probably benign 0.03
R7526:Bmpr1b UTSW 3 141,562,360 (GRCm39) missense probably damaging 1.00
R8136:Bmpr1b UTSW 3 141,562,143 (GRCm39) missense probably damaging 1.00
R8518:Bmpr1b UTSW 3 141,563,343 (GRCm39) missense possibly damaging 0.95
R8933:Bmpr1b UTSW 3 141,562,369 (GRCm39) missense probably damaging 0.99
R8949:Bmpr1b UTSW 3 141,586,203 (GRCm39) missense possibly damaging 0.83
R9675:Bmpr1b UTSW 3 141,563,321 (GRCm39) missense probably benign 0.00
Z1176:Bmpr1b UTSW 3 141,548,715 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GAGTATAACATTTCCAGCCCCTG -3'
(R):5'- GGGTCTTACCAGGTCCAAAG -3'

Sequencing Primer
(F):5'- AGAAGTACCTTAGTCATGCCTCCTG -3'
(R):5'- ACAATAGCTAAGCAAATTCAGATGG -3'
Posted On 2018-09-12