Incidental Mutation 'IGL02600:Bmpr1b'
ID 300044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmpr1b
Ensembl Gene ENSMUSG00000052430
Gene Name bone morphogenetic protein receptor, type 1B
Synonyms Acvrlk6, Alk6, CFK-43a, BMPR-IB
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # IGL02600
Quality Score
Status
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 141546488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 466 (M466R)
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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: M466R

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: M466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: M466R

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,200,264 (GRCm39) I483L probably benign Het
Casp8ap2 G A 4: 32,630,246 (GRCm39) D42N probably null Het
Crebbp T A 16: 3,972,882 (GRCm39) T271S probably benign Het
Ddx27 A G 2: 166,868,124 (GRCm39) H319R probably damaging Het
Dync2i2 T A 2: 29,923,314 (GRCm39) D263V possibly damaging Het
Gckr A G 5: 31,462,374 (GRCm39) M236V probably benign Het
Gm28044 A C 13: 67,469,025 (GRCm39) probably benign Het
Gmnc T A 16: 26,781,641 (GRCm39) probably benign Het
Gpx3 C A 11: 54,800,433 (GRCm39) D210E possibly damaging Het
Lpin2 A G 17: 71,545,693 (GRCm39) N513S probably damaging Het
Myh3 C T 11: 66,974,227 (GRCm39) R170C probably damaging Het
Nrxn3 G T 12: 89,478,682 (GRCm39) probably benign Het
Nynrin A G 14: 56,101,449 (GRCm39) I373V probably benign Het
Or13a21 T C 7: 139,998,862 (GRCm39) T275A probably benign Het
Or6b6 A G 7: 106,570,756 (GRCm39) I265T possibly damaging Het
Padi3 A G 4: 140,525,467 (GRCm39) V172A probably benign Het
Pdzd2 C A 15: 12,411,105 (GRCm39) G554W probably damaging Het
Plekhg6 G A 6: 125,347,563 (GRCm39) R464* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serinc1 A G 10: 57,399,127 (GRCm39) S259P probably benign Het
Slfn4 T A 11: 83,077,832 (GRCm39) S207T possibly damaging Het
Stab2 C T 10: 86,790,123 (GRCm39) G548R probably damaging Het
Tmem229b-ps T C 10: 53,351,052 (GRCm39) noncoding transcript Het
Ttn G A 2: 76,570,509 (GRCm39) P26795S probably damaging Het
Vmn2r96 A G 17: 18,817,829 (GRCm39) M661V probably benign Het
Ybey G A 10: 76,300,165 (GRCm39) probably benign Het
Zbtb17 A G 4: 141,194,196 (GRCm39) D715G possibly damaging Het
Zgrf1 T C 3: 127,394,623 (GRCm39) 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
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
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
Posted On 2015-04-16