Incidental Mutation 'IGL01643:Bmp5'
ID93587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp5
Ensembl Gene ENSMUSG00000032179
Gene Namebone morphogenetic protein 5
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.461) question?
Stock #IGL01643
Quality Score
Status
Chromosome9
Chromosomal Location75775364-75900310 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75839613 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 251 (D251V)
Ref Sequence ENSEMBL: ENSMUSP00000012281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012281]
Predicted Effect probably damaging
Transcript: ENSMUST00000012281
AA Change: D251V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: D251V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TGFb_propeptide 31 304 5.2e-94 PFAM
low complexity region 316 331 N/A INTRINSIC
TGFB 353 454 3.54e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137213
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,191,588 R304Q probably damaging Het
Afap1l1 T A 18: 61,751,826 E196V probably damaging Het
Ccdc155 A T 7: 45,200,286 M71K probably damaging Het
Ccser1 A G 6: 61,311,855 H334R probably benign Het
Crnkl1 A G 2: 145,931,348 M126T probably damaging Het
Ddrgk1 T C 2: 130,658,294 probably benign Het
Dpy19l4 T C 4: 11,290,184 probably benign Het
Eral1 A G 11: 78,074,278 probably null Het
Ereg T A 5: 91,086,778 S17T probably benign Het
Fgfr1 T A 8: 25,566,735 M280K probably benign Het
Gpr65 A G 12: 98,275,754 E222G probably damaging Het
Grid1 G T 14: 35,323,435 probably null Het
Hspa12b A G 2: 131,142,697 T329A probably damaging Het
Inpp4b A G 8: 82,071,771 I863V probably damaging Het
Krt8 G T 15: 101,997,073 S447Y possibly damaging Het
Lama2 T A 10: 27,070,372 probably benign Het
Lama4 A C 10: 39,056,850 N574T probably benign Het
Lig3 T C 11: 82,798,292 S791P probably damaging Het
Oas2 A T 5: 120,736,187 probably benign Het
Olfr1255 A T 2: 89,816,673 I116F probably damaging Het
Pdk1 A G 2: 71,897,705 D370G probably damaging Het
Popdc3 T A 10: 45,314,880 I29N probably damaging Het
Rbp3 A T 14: 33,956,836 I914F probably benign Het
Rnf207 C T 4: 152,318,261 probably benign Het
Ryr2 T A 13: 11,692,677 I2825F possibly damaging Het
Slc37a2 A T 9: 37,235,553 probably benign Het
Vps8 T C 16: 21,518,222 V791A possibly damaging Het
Wdr64 T C 1: 175,772,311 L127P probably damaging Het
Whrn T C 4: 63,416,435 T368A possibly damaging Het
Other mutations in Bmp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Bmp5 APN 9 75898551 missense probably damaging 1.00
IGL02977:Bmp5 APN 9 75893799 missense probably damaging 1.00
FR4976:Bmp5 UTSW 9 75776375 small deletion probably benign
R1291:Bmp5 UTSW 9 75886673 nonsense probably null
R1679:Bmp5 UTSW 9 75839595 missense probably benign
R2049:Bmp5 UTSW 9 75893790 missense probably damaging 1.00
R2278:Bmp5 UTSW 9 75776548 missense possibly damaging 0.90
R5159:Bmp5 UTSW 9 75893753 missense probably damaging 1.00
R5431:Bmp5 UTSW 9 75893709 missense probably damaging 1.00
R5756:Bmp5 UTSW 9 75776367 missense probably benign
R5884:Bmp5 UTSW 9 75898554 missense probably damaging 1.00
R6749:Bmp5 UTSW 9 75776093 start codon destroyed probably benign 0.00
R7346:Bmp5 UTSW 9 75873360 missense probably damaging 1.00
R7522:Bmp5 UTSW 9 75776102 missense probably benign
Posted On2013-12-09