Incidental Mutation 'R5855:Bmpr1b'
ID 454852
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 043229-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R5855 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141577146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 55 (T55M)
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: T55M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: T55M

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: T55M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: T55M

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: T55M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: T55M

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: T55M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: T55M

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 silent
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: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T G 7: 131,026,328 (GRCm39) L57R probably damaging Het
Cep350 G A 1: 155,829,508 (GRCm39) T132I probably benign Het
Cops4 A T 5: 100,695,280 (GRCm39) M400L probably benign Het
Cul1 G A 6: 47,500,147 (GRCm39) D653N probably benign Het
Cyp3a13 C G 5: 137,917,318 (GRCm39) L36F probably damaging Het
Dcaf10 T C 4: 45,342,558 (GRCm39) F131L probably benign Het
Dgkh T C 14: 78,861,944 (GRCm39) probably null Het
Igll1 C T 16: 16,678,921 (GRCm39) V130M probably damaging Het
Kif2c C T 4: 117,039,739 (GRCm39) probably benign Het
Klra7 T C 6: 130,195,921 (GRCm39) D262G possibly damaging Het
Lrrc27 T C 7: 138,798,251 (GRCm39) probably benign Het
Maf A G 8: 116,432,531 (GRCm39) S358P probably benign Het
Map1a A G 2: 121,134,155 (GRCm39) D1419G possibly damaging Het
Map3k1 G A 13: 111,892,513 (GRCm39) A914V probably benign Het
Naa25 T G 5: 121,561,755 (GRCm39) L436R possibly damaging Het
Ndc1 T C 4: 107,240,904 (GRCm39) I294T probably damaging Het
Nek1 A C 8: 61,469,306 (GRCm39) D121A probably damaging Het
Nfil3 C T 13: 53,122,746 (GRCm39) G53R probably benign Het
Or10h28 T C 17: 33,488,310 (GRCm39) V204A possibly damaging Het
Parp14 A T 16: 35,661,297 (GRCm39) Y1550* probably null Het
Patl1 A G 19: 11,898,880 (GRCm39) I192V probably damaging Het
Pax3 G A 1: 78,098,288 (GRCm39) T367I probably damaging Het
Pla2g4a C T 1: 149,755,814 (GRCm39) V208M probably damaging Het
Prdm10 A T 9: 31,248,619 (GRCm39) K347M probably damaging Het
Prkd1 A T 12: 50,439,699 (GRCm39) M376K probably benign Het
Prkg1 C T 19: 30,872,094 (GRCm39) V219I possibly damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox4 T C 13: 29,136,979 (GRCm39) E9G probably damaging Het
Spon1 T A 7: 113,628,307 (GRCm39) D354E probably damaging Het
Stat2 T A 10: 128,119,363 (GRCm39) L450H probably damaging Het
Tek T A 4: 94,741,790 (GRCm39) M849K probably damaging Het
Tmem63c G A 12: 87,122,500 (GRCm39) D433N probably damaging Het
Tnpo3 G A 6: 29,589,032 (GRCm39) T106I probably damaging Het
Tns1 G T 1: 73,957,192 (GRCm39) A1674D possibly damaging Het
Trim8 T C 19: 46,503,849 (GRCm39) V467A possibly damaging Het
Trmo T A 4: 46,382,568 (GRCm39) H183L probably benign Het
Trpm1 C A 7: 63,918,710 (GRCm39) C683* probably null Het
Vsig10 T G 5: 117,476,335 (GRCm39) L263R probably damaging Het
Zfp874a A T 13: 67,590,812 (GRCm39) Y291N probably benign 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
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
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'- ACTTGTAGCAACCAGAGTACAC -3'
(R):5'- GGAGGTCCTCAACAATGTGTAG -3'

Sequencing Primer
(F):5'- ACACTGGATAAGCAAATAATGAAGTC -3'
(R):5'- GCAGCAACAAAACAACAACC -3'
Posted On 2017-02-10