Incidental Mutation 'IGL01286:Cdh11'
ID72714
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 #IGL01286
Quality Score
Status
Chromosome8
Chromosomal Location102632095-102785642 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102664629 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 325 (Q325L)
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 damaging
Transcript: ENSMUST00000075190
AA Change: Q325L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: Q325L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 C214S possibly damaging Het
5430419D17Rik A T 7: 131,246,703 N862I probably damaging Het
Ankrd26 A T 6: 118,559,107 V122E probably damaging Het
Blnk T C 19: 40,934,506 K389R probably benign Het
Cep112 T C 11: 108,859,409 probably null Het
Cmtr2 T A 8: 110,222,852 I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 E857D unknown Het
Col2a1 G A 15: 97,994,878 P237L unknown Het
Commd2 G A 3: 57,650,722 T66M probably benign Het
Cyp2c50 A T 19: 40,092,284 K241N probably benign Het
Fbxo2 A G 4: 148,165,706 N231S probably benign Het
Grm5 T C 7: 87,602,565 S8P probably benign Het
Ip6k1 A G 9: 108,045,883 T405A probably benign Het
Kel G T 6: 41,688,117 probably null Het
Lin54 T C 5: 100,485,607 T73A probably benign Het
Nek1 T A 8: 61,124,216 V1052D possibly damaging Het
Olfr1184 T A 2: 88,487,248 I172K probably damaging Het
Olfr782 T A 10: 129,350,650 L29H probably damaging Het
Pcid2 T C 8: 13,090,660 D155G probably damaging Het
Ptchd1 T C X: 155,574,824 T462A possibly damaging Het
Pxdn A G 12: 29,982,754 E179G probably benign Het
Rfc2 T C 5: 134,589,389 L82P probably damaging Het
Sh3rf2 T C 18: 42,139,611 probably null Het
Sis A T 3: 72,941,025 W639R probably damaging Het
Tbcd T C 11: 121,493,893 probably null Het
Tert G A 13: 73,628,297 R389H possibly damaging Het
Tns3 C T 11: 8,492,617 S582N probably benign Het
Tssk2 C T 16: 17,898,958 T75I probably benign Het
Txnl4a C T 18: 80,218,741 T64I probably benign Het
Xpot T C 10: 121,602,338 D782G 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
IGL01556:Cdh11 APN 8 102679644 missense probably damaging 1.00
IGL01964:Cdh11 APN 8 102664743 missense probably benign 0.03
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 On2013-10-07