Incidental Mutation 'R1815:Bmpr1b'
ID 202609
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 039843-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R1815 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141586124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 46 (I46N)
Ref Sequence ENSEMBL: ENSMUSP00000101839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect probably benign
Transcript: ENSMUST00000029948
AA Change: I46N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: I46N

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 benign
Transcript: ENSMUST00000098568
AA Change: I46N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: I46N

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: ENSMUST00000106230
AA Change: I46N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: I46N

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 benign
Transcript: ENSMUST00000106232
AA Change: I46N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: I46N

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
AA Change: I46N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430
AA Change: I46N

DomainStartEndE-ValueType
PDB:3EVS|C 13 47 1e-18 PDB
SCOP:d1es7b_ 28 47 2e-4 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,083,905 (GRCm39) T492A probably damaging Het
Afg3l2 A T 18: 67,548,643 (GRCm39) L529* probably null Het
Ak9 A G 10: 41,213,572 (GRCm39) E259G probably damaging Het
Apol11b T A 15: 77,519,772 (GRCm39) I103F probably damaging Het
Atp7b T C 8: 22,501,667 (GRCm39) M864V possibly damaging Het
Atp8a2 A G 14: 60,324,073 (GRCm39) L60P probably damaging Het
Begain T C 12: 109,000,033 (GRCm39) Y451C probably damaging Het
Bms1 T A 6: 118,360,742 (GRCm39) K1242M probably damaging Het
Calcoco1 A G 15: 102,622,358 (GRCm39) L254P probably damaging Het
Ccdc112 A T 18: 46,424,173 (GRCm39) N188K possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkal1 A G 13: 29,901,774 (GRCm39) V132A possibly damaging Het
Cdo1 A G 18: 46,853,369 (GRCm39) C130R probably damaging Het
Cep295nl G T 11: 118,223,474 (GRCm39) R457S probably damaging Het
Cntn1 A T 15: 92,148,829 (GRCm39) I359F probably benign Het
Csnk1g1 T C 9: 65,939,606 (GRCm39) V435A probably damaging Het
Csnka2ip A G 16: 64,298,855 (GRCm39) V59A probably benign Het
Ddr2 A T 1: 169,823,170 (GRCm39) Y371* probably null Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Dnah2 T C 11: 69,366,400 (GRCm39) I1901V probably damaging Het
Fanci T A 7: 79,088,056 (GRCm39) I903N probably damaging Het
Fastk T C 5: 24,646,529 (GRCm39) Q471R probably damaging Het
Flvcr1 A T 1: 190,757,577 (GRCm39) N238K probably damaging Het
Gsdmc3 A T 15: 63,740,965 (GRCm39) L61H probably damaging Het
H2-M10.5 T A 17: 37,084,836 (GRCm39) C187S probably damaging Het
Hmcn2 T C 2: 31,283,055 (GRCm39) I1977T probably damaging Het
Itpr2 T A 6: 146,260,914 (GRCm39) I905F probably benign Het
Jmy C T 13: 93,590,585 (GRCm39) G506D probably damaging Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Klhdc7b A G 15: 89,271,800 (GRCm39) E894G probably damaging Het
Klra7 T C 6: 130,201,070 (GRCm39) I229V probably benign Het
Krt35 T C 11: 99,986,565 (GRCm39) T150A probably benign Het
Krtap20-1 T C 16: 88,812,337 (GRCm39) probably benign Het
Lct T C 1: 128,227,896 (GRCm39) Y1199C probably damaging Het
Lmbrd1 T A 1: 24,724,642 (GRCm39) N75K possibly damaging Het
Lss T C 10: 76,388,798 (GRCm39) S700P probably damaging Het
Ltbp1 A T 17: 75,559,375 (GRCm39) Q288L probably benign Het
Mical2 A G 7: 112,012,109 (GRCm39) E653G probably damaging Het
Mphosph10 G T 7: 64,041,918 (GRCm39) Q9K probably benign Het
Muc15 T A 2: 110,561,603 (GRCm39) L13Q probably damaging Het
Ncf4 A G 15: 78,134,602 (GRCm39) D18G probably benign Het
Nipsnap1 A G 11: 4,839,101 (GRCm39) Y127C probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Or8g18 T C 9: 39,149,286 (GRCm39) I145V probably benign Het
Otud4 T A 8: 80,366,618 (GRCm39) Y28* probably null Het
Pdcd2l G A 7: 33,885,826 (GRCm39) T286I probably benign Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Phlpp2 C A 8: 110,666,855 (GRCm39) T1128K probably damaging Het
Pik3cb A G 9: 98,975,148 (GRCm39) V244A possibly damaging Het
Pld1 A G 3: 28,163,917 (GRCm39) I783M probably benign Het
Plk5 T C 10: 80,199,855 (GRCm39) V454A probably benign Het
Prkci T C 3: 31,092,644 (GRCm39) S309P probably damaging Het
Prx A T 7: 27,216,090 (GRCm39) D197V probably damaging Het
Ptpn5 A G 7: 46,728,589 (GRCm39) L537P probably benign Het
Rev3l T A 10: 39,698,867 (GRCm39) N1121K probably benign Het
Rock2 T A 12: 17,022,727 (GRCm39) D1055E probably benign Het
Rrp1b T C 17: 32,275,785 (GRCm39) V444A probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 CG CGACGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
S1pr2 G A 9: 20,879,388 (GRCm39) R147* probably null Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Smc6 T C 12: 11,344,602 (GRCm39) probably null Het
Srsf11 C T 3: 157,722,064 (GRCm39) probably benign Het
Sstr1 T C 12: 58,260,264 (GRCm39) F296L possibly damaging Het
Tecrl T A 5: 83,427,081 (GRCm39) I356L probably benign Het
Tln2 A G 9: 67,136,705 (GRCm39) I2348T probably damaging Het
Tmed11 T A 5: 108,925,291 (GRCm39) I174L probably benign Het
Tmem132a G A 19: 10,838,931 (GRCm39) Q504* probably null Het
Unc5c A T 3: 141,463,518 (GRCm39) D213V probably damaging Het
Utp25 A C 1: 192,800,591 (GRCm39) S410A probably benign Het
Vgll4 T C 6: 114,841,020 (GRCm39) D92G probably benign Het
Vps37a T C 8: 40,965,162 (GRCm39) F5L probably benign Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zeb1 G A 18: 5,767,898 (GRCm39) C803Y probably damaging Het
Zmym1 T C 4: 126,942,814 (GRCm39) T427A possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTTTGTTCATTGACAAGGAGCCTG -3'
(R):5'- GAAGGCTGTCCTAACCCTCATC -3'

Sequencing Primer
(F):5'- TTCATTGACAAGGAGCCTGAGATCTG -3'
(R):5'- ACCCTCATCCATTATTCTTTTCAGAG -3'
Posted On 2014-06-23