Incidental Mutation 'IGL02078:Bmpr1b'
ID 186033
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 # IGL02078
Quality Score
Status
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141576498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 112 (P112S)
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: P112S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: P112S

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: P112S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: P112S

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: P112S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: P112S

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: P112S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: P112S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Atp1a1 A C 3: 101,499,179 (GRCm39) V140G probably damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Cldn23 A T 8: 36,293,359 (GRCm39) V43E possibly damaging Het
Clta T C 4: 44,030,232 (GRCm39) F168S probably damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
E2f2 A G 4: 135,920,323 (GRCm39) D436G probably damaging Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Spata31g1 A C 4: 42,972,685 (GRCm39) K673Q possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y 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
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
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 2014-05-07