Incidental Mutation 'R5933:Bmpr1b'
ID 461990
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 044127-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R5933 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 141577128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 59 (*59W)
Ref Sequence ENSEMBL: ENSMUSP00000117478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect probably benign
Transcript: ENSMUST00000029948
AA Change: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: D61G

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: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: D61G

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: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: D61G

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: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: D61G

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 null
Transcript: ENSMUST00000131273
AA Change: *59W
SMART Domains Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430
AA Change: *59W

DomainStartEndE-ValueType
PDB:3EVS|C 13 47 1e-18 PDB
SCOP:d1es7b_ 28 47 2e-4 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 94% (99/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,776,109 (GRCm39) P1766L probably damaging Het
Abca13 A G 11: 9,199,658 (GRCm39) Q119R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aipl1 A C 11: 71,921,108 (GRCm39) C237G probably benign Het
Ankdd1a C T 9: 65,416,978 (GRCm39) A154T probably benign Het
Arglu1 T C 8: 8,740,047 (GRCm39) S91G probably benign Het
Arhgef33 C A 17: 80,644,709 (GRCm39) H13N probably benign Het
Atp1a4 A G 1: 172,059,841 (GRCm39) I796T possibly damaging Het
Birc6 C G 17: 74,906,232 (GRCm39) S1374R probably damaging Het
Birc6 T A 17: 74,906,233 (GRCm39) S72T probably damaging Het
Btbd16 A T 7: 130,386,011 (GRCm39) Q63L probably damaging Het
Cacna1c C T 6: 118,589,541 (GRCm39) R1592H probably damaging Het
Caps2 G A 10: 112,051,351 (GRCm39) E541K probably benign Het
Card9 T C 2: 26,242,509 (GRCm39) E500G probably damaging Het
Carnmt1 T C 19: 18,681,469 (GRCm39) V396A probably benign Het
Ccnl1 T A 3: 65,855,763 (GRCm39) K320M probably damaging Het
Cdh20 A C 1: 104,912,396 (GRCm39) D550A probably damaging Het
Cdhr1 T A 14: 36,811,419 (GRCm39) T231S probably benign Het
Cenpe T C 3: 134,967,389 (GRCm39) V2177A probably benign Het
Cfap69 A G 5: 5,690,183 (GRCm39) C161R probably damaging Het
Ctsd C T 7: 141,930,316 (GRCm39) V403I probably benign Het
Cyth1 C T 11: 118,076,585 (GRCm39) probably null Het
Dazl A T 17: 50,594,781 (GRCm39) probably null Het
Disp3 A T 4: 148,325,770 (GRCm39) C1329* probably null Het
Dld C T 12: 31,383,982 (GRCm39) V374I probably benign Het
Dnah7c T C 1: 46,558,375 (GRCm39) Y494H probably damaging Het
Dnttip2 T A 3: 122,069,217 (GRCm39) M144K probably benign Het
Drc1 A T 5: 30,502,873 (GRCm39) D132V probably damaging Het
Enpp6 A G 8: 47,519,039 (GRCm39) D269G probably benign Het
Ephx4 T A 5: 107,551,631 (GRCm39) probably null Het
Evl T C 12: 108,649,516 (GRCm39) S345P possibly damaging Het
Fam193a A T 5: 34,623,024 (GRCm39) D1204V probably damaging Het
Fat2 A T 11: 55,174,877 (GRCm39) D1945E probably damaging Het
Fat4 T C 3: 39,005,524 (GRCm39) probably null Het
Fbln7 A T 2: 128,719,418 (GRCm39) M72L probably benign Het
Flnc T C 6: 29,441,105 (GRCm39) V353A probably damaging Het
Fry T C 5: 150,314,265 (GRCm39) probably benign Het
Galnt14 A T 17: 73,833,300 (GRCm39) C225S probably benign Het
Gapvd1 T C 2: 34,574,303 (GRCm39) S1265G probably benign Het
Gm13030 A G 4: 138,598,515 (GRCm39) F136S unknown Het
Gucy1a1 T C 3: 82,002,114 (GRCm39) H655R probably damaging Het
Hk1 A G 10: 62,105,773 (GRCm39) L890P probably damaging Het
Igfn1 T A 1: 135,898,341 (GRCm39) R742* probably null Het
Igkv12-49 T C 6: 69,693,553 (GRCm39) noncoding transcript Het
Igkv2-109 T A 6: 68,279,965 (GRCm39) L62Q possibly damaging Het
Itgb3 A G 11: 104,528,805 (GRCm39) T311A possibly damaging Het
Kl A G 5: 150,912,948 (GRCm39) E899G probably damaging Het
Kyat3 A T 3: 142,429,021 (GRCm39) D151V probably damaging Het
Morc2b A T 17: 33,357,583 (GRCm39) M63K possibly damaging Het
Mtbp T A 15: 55,434,723 (GRCm39) F298L possibly damaging Het
Mtmr3 C T 11: 4,448,951 (GRCm39) V272I probably benign Het
Muc4 A G 16: 32,574,480 (GRCm39) T977A probably benign Het
Nebl G A 2: 17,408,998 (GRCm39) H367Y probably benign Het
Nop58 T A 1: 59,743,824 (GRCm39) Y274* probably null Het
Nuak1 T A 10: 84,210,666 (GRCm39) Q474L probably damaging Het
Obscn A G 11: 58,889,331 (GRCm39) S7523P unknown Het
Oosp3 T A 19: 11,682,753 (GRCm39) D140E probably benign Het
Or52z15 T A 7: 103,332,680 (GRCm39) C242S probably damaging Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Patl1 A G 19: 11,917,136 (GRCm39) N661S probably benign Het
Pcyox1l G T 18: 61,831,544 (GRCm39) N238K probably benign Het
Pmch A G 10: 87,927,011 (GRCm39) T5A probably benign Het
Polr3h A G 15: 81,800,835 (GRCm39) L169P probably damaging Het
Ptpn4 A G 1: 119,615,453 (GRCm39) V567A probably damaging Het
Rasgrp2 T G 19: 6,452,543 (GRCm39) F39V probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,401 (GRCm39) probably null Het
Slc46a3 A T 5: 147,830,700 (GRCm39) N44K probably benign Het
Slc9b1 T A 3: 135,099,756 (GRCm39) N425K probably benign Het
Slfn14 A T 11: 83,170,288 (GRCm39) V452E probably damaging Het
Slfn8 A T 11: 82,894,161 (GRCm39) M826K probably benign Het
Slit3 G A 11: 35,520,578 (GRCm39) V572M probably benign Het
Smr3a C A 5: 88,155,873 (GRCm39) probably null Het
Snap29 T C 16: 17,224,194 (GRCm39) S70P probably damaging Het
Svopl T A 6: 37,993,949 (GRCm39) probably benign Het
Tbc1d17 A T 7: 44,494,761 (GRCm39) F186I probably damaging Het
Tgm6 T C 2: 129,983,176 (GRCm39) V255A probably damaging Het
Tjp1 G T 7: 64,952,600 (GRCm39) T1498K probably benign Het
Tkfc C A 19: 10,574,711 (GRCm39) E176D probably benign Het
Tmem102 C T 11: 69,694,506 (GRCm39) V489I probably damaging Het
Ttn A G 2: 76,551,781 (GRCm39) V22930A probably damaging Het
Tyms A T 5: 30,278,357 (GRCm39) probably null Het
Uaca T A 9: 60,748,238 (GRCm39) D67E probably damaging Het
Unc119b G A 5: 115,265,508 (GRCm39) probably benign Het
Usp29 A T 7: 6,964,744 (GRCm39) T196S probably benign Het
Usp37 A G 1: 74,525,141 (GRCm39) S228P probably damaging Het
Usp42 C A 5: 143,701,270 (GRCm39) A918S probably benign Het
Vmn2r72 T A 7: 85,387,058 (GRCm39) L835F probably benign Het
Vps13a T C 19: 16,637,894 (GRCm39) T2396A probably benign Het
Whrn A T 4: 63,412,945 (GRCm39) S176T probably damaging Het
Zbtb42 T C 12: 112,647,055 (GRCm39) F410S probably damaging Het
Zfp616 T C 11: 73,973,952 (GRCm39) S74P probably damaging Het
Zswim6 A G 13: 107,880,642 (GRCm39) noncoding transcript 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
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'- TTGTAGCAACCAGAGTACACTG -3'
(R):5'- GGAGGTCCTCAACAATGTGTAGG -3'

Sequencing Primer
(F):5'- ACACTGGATAAGCAAATAATGAAGTC -3'
(R):5'- GCAGCAACAAAACAACAACC -3'
Posted On 2017-02-28