Incidental Mutation 'IGL01964:Cdh11'
ID181499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh11
Ensembl Gene ENSMUSG00000031673
Gene Namecadherin 11
Synonymsosteoblast-cadherin, Cad11, OB-cadherin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01964
Quality Score
Status
Chromosome8
Chromosomal Location102632095-102785642 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102664743 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 287 (V287A)
Ref Sequence ENSEMBL: ENSMUSP00000074681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075190]
PDB Structure
Crystal structure of mouse cadherin-11 EC1 [X-RAY DIFFRACTION]
Crystal structure of mouse cadherin-11 EC1-2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000075190
AA Change: V287A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: V287A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 76 157 1.99e-19 SMART
CA 181 266 3.33e-30 SMART
CA 290 382 3.37e-17 SMART
CA 405 486 1.14e-23 SMART
CA 513 600 4.77e-8 SMART
transmembrane domain 618 640 N/A INTRINSIC
Pfam:Cadherin_C 643 788 1.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210425
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a type II classical cadherin and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is an integral membrane protein that mediates calcium-dependent cell-cell adhesion, specifically in the context of bone development. Homozygous knockout mice for this gene exhibit impaired synovium development and reduced bone density. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutant animals appear healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T C 3: 108,778,277 V579A probably benign Het
Ankrd11 A G 8: 122,889,736 I2438T probably damaging Het
Cdyl2 G A 8: 116,624,029 S121L probably benign Het
Cyp2e1 A T 7: 140,763,866 I6F probably damaging Het
Cyp3a16 A T 5: 145,455,562 D194E probably benign Het
Eapp G T 12: 54,685,935 P126Q probably damaging Het
Efr3b A T 12: 3,982,928 L143Q probably damaging Het
Gm5346 A C 8: 43,626,761 I142S probably benign Het
Grin2c C T 11: 115,253,847 E618K probably damaging Het
Haus3 A T 5: 34,166,061 Y402N probably benign Het
Iffo1 A G 6: 125,151,401 D316G probably damaging Het
Kctd19 A T 8: 105,388,525 M468K probably damaging Het
Kdm4b T A 17: 56,389,256 probably null Het
Naip6 T A 13: 100,298,730 probably benign Het
Olfr178 A T 16: 58,889,464 I252K probably damaging Het
Polr3c T C 3: 96,711,975 probably benign Het
Poteg A T 8: 27,448,008 E60V probably damaging Het
Rnd2 T C 11: 101,470,806 probably null Het
Rufy3 A G 5: 88,615,070 Q153R probably damaging Het
Shank1 T A 7: 44,325,678 I399N unknown Het
Sin3a T C 9: 57,107,347 probably benign Het
Sppl2b T A 10: 80,865,386 probably null Het
Srgap1 G A 10: 121,804,966 P665L possibly damaging Het
Srgap2 G T 1: 131,289,578 Q999K probably benign Het
Tbxas1 G A 6: 39,083,814 V496I probably benign Het
Vmn1r198 A G 13: 22,354,406 M21V probably benign Het
Wdr90 T C 17: 25,848,409 I1479V probably benign Het
Other mutations in Cdh11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Cdh11 APN 8 102650649 missense probably damaging 1.00
IGL01019:Cdh11 APN 8 102679745 missense probably benign
IGL01286:Cdh11 APN 8 102664629 missense probably damaging 0.98
IGL01556:Cdh11 APN 8 102679644 missense probably damaging 1.00
IGL02322:Cdh11 APN 8 102647519 missense probably benign 0.01
IGL03094:Cdh11 APN 8 102658403 missense probably benign
IGL03110:Cdh11 APN 8 102673870 missense probably damaging 1.00
IGL03391:Cdh11 APN 8 102674023 missense possibly damaging 0.89
R0401:Cdh11 UTSW 8 102674006 missense probably damaging 1.00
R0466:Cdh11 UTSW 8 102670058 missense possibly damaging 0.89
R0731:Cdh11 UTSW 8 102668019 missense probably damaging 1.00
R0925:Cdh11 UTSW 8 102634724 missense probably damaging 1.00
R1597:Cdh11 UTSW 8 102650711 missense probably benign 0.06
R1624:Cdh11 UTSW 8 102664601 splice site probably benign
R1829:Cdh11 UTSW 8 102634641 missense possibly damaging 0.92
R2029:Cdh11 UTSW 8 102679772 missense probably benign 0.00
R4191:Cdh11 UTSW 8 102650748 missense probably damaging 0.98
R4270:Cdh11 UTSW 8 102664626 missense possibly damaging 0.69
R4271:Cdh11 UTSW 8 102664626 missense possibly damaging 0.69
R4455:Cdh11 UTSW 8 102647823 missense probably benign
R4516:Cdh11 UTSW 8 102673962 missense possibly damaging 0.59
R4900:Cdh11 UTSW 8 102647458 splice site probably null
R5441:Cdh11 UTSW 8 102647546 missense probably benign 0.11
R5699:Cdh11 UTSW 8 102634543 missense probably damaging 0.96
R6170:Cdh11 UTSW 8 102634810 missense probably benign 0.00
R6846:Cdh11 UTSW 8 102664644 missense probably damaging 0.97
R7018:Cdh11 UTSW 8 102634321 missense possibly damaging 0.82
R7095:Cdh11 UTSW 8 102658267 missense probably damaging 1.00
R7497:Cdh11 UTSW 8 102673824 missense probably benign 0.00
R7632:Cdh11 UTSW 8 102673883 missense probably damaging 0.99
R7715:Cdh11 UTSW 8 102664714 missense possibly damaging 0.66
R8321:Cdh11 UTSW 8 102634784 missense probably damaging 0.99
Posted On2014-05-07