Incidental Mutation 'IGL01351:Cdh6'
ID75358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh6
Ensembl Gene ENSMUSG00000039385
Gene Namecadherin 6
Synonymscad6, K-cadherin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.526) question?
Stock #IGL01351
Quality Score
Status
Chromosome15
Chromosomal Location13028701-13173675 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 13034240 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 778 (A778E)
Ref Sequence ENSEMBL: ENSMUSP00000037113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036439]
PDB Structure Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036439
AA Change: A778E

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
AA Change: A778E

DomainStartEndE-ValueType
CA 76 157 7e-15 SMART
CA 181 266 9.06e-32 SMART
CA 290 382 1.14e-19 SMART
CA 405 486 8.81e-21 SMART
CA 509 596 2.82e-10 SMART
transmembrane domain 614 636 N/A INTRINSIC
Pfam:Cadherin_C 639 783 5.6e-57 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,267,565 S336P probably benign Het
Abca9 T C 11: 110,148,903 Y428C probably damaging Het
Alpk1 T C 3: 127,672,362 Q1165R probably damaging Het
Angel2 C A 1: 190,933,113 N80K probably benign Het
Bmp6 T C 13: 38,469,634 S226P probably damaging Het
Ccar2 T C 14: 70,145,862 T229A probably benign Het
Cdh12 G A 15: 21,237,903 V75M probably damaging Het
Corin A T 5: 72,338,991 C540S probably damaging Het
Cyfip1 C A 7: 55,898,243 Y530* probably null Het
Dock10 T G 1: 80,593,159 K327N probably damaging Het
Dpy19l3 A G 7: 35,727,415 probably benign Het
E2f8 T C 7: 48,867,151 T827A probably benign Het
Edem3 T C 1: 151,792,385 V305A possibly damaging Het
Fam170a T C 18: 50,281,778 W164R probably benign Het
Fam208a A G 14: 27,464,301 E819G probably benign Het
Fbxw14 T C 9: 109,274,572 D24G possibly damaging Het
Gnmt T C 17: 46,726,680 D124G probably benign Het
Gpx5 T C 13: 21,287,499 D178G probably damaging Het
Gsdmd T A 15: 75,864,337 I105N probably damaging Het
Hps5 C T 7: 46,761,432 M1113I probably damaging Het
Hyal6 T C 6: 24,734,179 F37S probably damaging Het
Il17c C T 8: 122,422,123 T2I probably benign Het
Lyz1 A G 10: 117,291,188 C48R probably damaging Het
Olfr670 T A 7: 104,960,739 probably benign Het
Pafah1b3 G A 7: 25,295,145 R215C possibly damaging Het
Psmb4 A T 3: 94,886,227 probably null Het
Rnf213 T C 11: 119,483,118 V5009A probably benign Het
Sema6a T C 18: 47,281,302 K494E possibly damaging Het
Sfmbt1 T C 14: 30,769,820 V17A probably benign Het
Speg T A 1: 75,411,276 probably benign Het
Spint1 A G 2: 119,246,455 D340G probably damaging Het
Tctn3 T C 19: 40,607,637 I309V probably benign Het
Tex19.1 T A 11: 121,147,246 D143E probably damaging Het
Tktl2 A G 8: 66,512,896 I369V probably benign Het
Tm2d2 A G 8: 25,020,557 probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Zfhx4 A G 3: 5,401,136 Y2118C probably damaging Het
Zmynd15 C A 11: 70,463,590 N425K probably benign Het
Other mutations in Cdh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Cdh6 APN 15 13034359 nonsense probably null
IGL00675:Cdh6 APN 15 13041439 missense possibly damaging 0.80
IGL01063:Cdh6 APN 15 13064495 missense probably damaging 1.00
IGL01335:Cdh6 APN 15 13051309 missense probably benign 0.40
IGL02010:Cdh6 APN 15 13034190 utr 3 prime probably benign
IGL02428:Cdh6 APN 15 13064430 missense possibly damaging 0.94
PIT4651001:Cdh6 UTSW 15 13044719 missense possibly damaging 0.69
R0124:Cdh6 UTSW 15 13034324 missense probably damaging 1.00
R0256:Cdh6 UTSW 15 13053782 splice site probably benign
R0696:Cdh6 UTSW 15 13051332 missense probably benign 0.36
R1017:Cdh6 UTSW 15 13051476 missense probably benign 0.06
R1240:Cdh6 UTSW 15 13057455 missense possibly damaging 0.48
R1444:Cdh6 UTSW 15 13091838 missense probably benign 0.00
R2008:Cdh6 UTSW 15 13051476 missense possibly damaging 0.74
R2050:Cdh6 UTSW 15 13057501 missense probably benign
R2507:Cdh6 UTSW 15 13041361 missense probably benign 0.10
R3082:Cdh6 UTSW 15 13044752 missense probably damaging 1.00
R3083:Cdh6 UTSW 15 13044752 missense probably damaging 1.00
R3903:Cdh6 UTSW 15 13042575 missense probably benign 0.39
R4591:Cdh6 UTSW 15 13051486 missense possibly damaging 0.69
R4859:Cdh6 UTSW 15 13051332 missense probably benign 0.36
R4898:Cdh6 UTSW 15 13034688 missense probably damaging 0.99
R5242:Cdh6 UTSW 15 13064411 missense probably benign 0.05
R5313:Cdh6 UTSW 15 13034637 missense probably damaging 1.00
R5545:Cdh6 UTSW 15 13041149 missense probably damaging 1.00
R6360:Cdh6 UTSW 15 13041460 missense possibly damaging 0.82
R6650:Cdh6 UTSW 15 13051401 missense probably benign 0.11
R6830:Cdh6 UTSW 15 13044774 missense probably benign 0.01
R7369:Cdh6 UTSW 15 13042638 missense probably damaging 0.99
R7506:Cdh6 UTSW 15 13034310 missense probably damaging 1.00
R8121:Cdh6 UTSW 15 13044671 missense probably damaging 1.00
R8801:Cdh6 UTSW 15 13044761 missense probably damaging 1.00
Posted On2013-10-07