Incidental Mutation 'IGL02331:Bmp7'
ID288678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp7
Ensembl Gene ENSMUSG00000008999
Gene Namebone morphogenetic protein 7
Synonymsosteogenic protein 1, OP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02331
Quality Score
Status
Chromosome2
Chromosomal Location172868012-172940321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 172872931 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 362 (C362S)
Ref Sequence ENSEMBL: ENSMUSP00000009143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009143]
Predicted Effect probably damaging
Transcript: ENSMUST00000009143
AA Change: C362S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: C362S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:TGFb_propeptide 34 279 4.3e-97 PFAM
TGFB 329 430 2.14e-68 SMART
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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]
PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Arnt2 A G 7: 84,265,624 Y511H probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 probably null Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Elovl5 T C 9: 77,979,899 S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Kxd1 T C 8: 70,515,440 T128A probably benign Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pilra C A 5: 137,835,655 G47* probably null Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Bmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Bmp7 APN 2 172875262 missense probably damaging 1.00
IGL01143:Bmp7 APN 2 172879482 missense probably benign
IGL01636:Bmp7 APN 2 172875208 splice site probably benign
IGL03211:Bmp7 APN 2 172872883 missense possibly damaging 0.70
R1957:Bmp7 UTSW 2 172939921 missense probably damaging 0.97
R2044:Bmp7 UTSW 2 172939915 missense possibly damaging 0.46
R3772:Bmp7 UTSW 2 172870222 missense probably damaging 1.00
R4392:Bmp7 UTSW 2 172916542 missense probably benign 0.25
R6716:Bmp7 UTSW 2 172872889 missense probably damaging 1.00
R6774:Bmp7 UTSW 2 172872958 missense probably damaging 1.00
R6864:Bmp7 UTSW 2 172940062 missense probably benign 0.00
R6904:Bmp7 UTSW 2 172872913 missense probably damaging 0.97
R7295:Bmp7 UTSW 2 172939897 missense probably damaging 1.00
R7390:Bmp7 UTSW 2 172870205 missense probably damaging 1.00
R7392:Bmp7 UTSW 2 172870205 missense probably damaging 1.00
R7560:Bmp7 UTSW 2 172939964 missense possibly damaging 0.85
R7871:Bmp7 UTSW 2 172939991 missense probably benign 0.00
R7954:Bmp7 UTSW 2 172939991 missense probably benign 0.00
X0024:Bmp7 UTSW 2 172939801 missense probably benign 0.25
Posted On2015-04-16