Incidental Mutation 'R6469:Bmpr1b'
ID 520250
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 044602-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R6469 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141562222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 322 (T322A)
Ref Sequence ENSEMBL: ENSMUSP00000101839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect possibly damaging
Transcript: ENSMUST00000029948
AA Change: T322A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: T322A

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 possibly damaging
Transcript: ENSMUST00000098568
AA Change: T322A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: T322A

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 possibly damaging
Transcript: ENSMUST00000106230
AA Change: T322A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: T322A

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 possibly damaging
Transcript: ENSMUST00000106232
AA Change: T322A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: T322A

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: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.3%
Validation Efficiency 100% (43/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T G 3: 137,772,736 (GRCm39) S642A probably damaging Het
Aadacl2 A T 3: 59,932,210 (GRCm39) T242S probably benign Het
Adprh T C 16: 38,270,671 (GRCm39) M45V probably benign Het
Akr1c13 T C 13: 4,246,511 (GRCm39) probably null Het
Ap3d1 A C 10: 80,547,992 (GRCm39) V900G probably benign Het
Bak1 G A 17: 27,240,293 (GRCm39) R125C probably damaging Het
Camsap3 T A 8: 3,653,941 (GRCm39) L521Q possibly damaging Het
Col6a6 A T 9: 105,575,890 (GRCm39) F2157I probably damaging Het
Dcun1d4 G A 5: 73,691,957 (GRCm39) M155I probably damaging Het
Diaph3 T C 14: 86,893,974 (GRCm39) S12G possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgb A T 3: 82,953,449 (GRCm39) L107* probably null Het
Ganab T C 19: 8,879,996 (GRCm39) probably null Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Glb1l2 T C 9: 26,707,828 (GRCm39) D60G probably benign Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Itih2 A G 2: 10,128,224 (GRCm39) V159A possibly damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lrch1 C T 14: 75,054,525 (GRCm39) R323Q probably damaging Het
Lrrc30 T C 17: 67,938,860 (GRCm39) N240S probably benign Het
Mrgpra9 T C 7: 46,884,854 (GRCm39) Y271C probably benign Het
Ncor1 T C 11: 62,234,128 (GRCm39) H682R probably damaging Het
Or14j4 A T 17: 37,921,204 (GRCm39) V146E probably damaging Het
Pax9 C A 12: 56,743,648 (GRCm39) F98L probably damaging Het
Phlpp1 G A 1: 106,214,833 (GRCm39) R585Q probably damaging Het
Prkdc A G 16: 15,612,939 (GRCm39) T3166A probably benign Het
Prr11 T A 11: 86,988,003 (GRCm39) Q300L possibly damaging Het
Rad50 T A 11: 53,575,062 (GRCm39) E620D probably benign Het
Rpl3 A T 15: 79,967,546 (GRCm39) probably null Het
Sacs G T 14: 61,428,697 (GRCm39) G252V probably damaging Het
Serpina3i T A 12: 104,232,776 (GRCm39) V227E probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Snx19 T C 9: 30,339,039 (GRCm39) V59A possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcstv2c T A 13: 120,616,349 (GRCm39) W63R probably damaging Het
Tsc1 G A 2: 28,561,898 (GRCm39) probably null Het
Vmn2r61 C T 7: 41,915,283 (GRCm39) Q77* probably null Het
Wdr72 A G 9: 74,120,643 (GRCm39) H954R probably benign Het
Zbtb21 T C 16: 97,757,972 (GRCm39) M20V probably benign Het
Zkscan16 A T 4: 58,956,483 (GRCm39) D255V 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
R6826:Bmpr1b UTSW 3 141,563,167 (GRCm39) missense probably damaging 1.00
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'- CTGTGGGAAGTAACTAGAACACTC -3'
(R):5'- ACGAACGGTACCTCATTCTGTC -3'

Sequencing Primer
(F):5'- CAAAAATACCCTCAGAATGTGTGTC -3'
(R):5'- TGAAGCTAGCCTACTCCT -3'
Posted On 2018-06-06