Incidental Mutation 'R4591:Cdh6'
ID 342854
Institutional Source Beutler Lab
Gene Symbol Cdh6
Ensembl Gene ENSMUSG00000039385
Gene Name cadherin 6
Synonyms K-cadherin, cad6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 13028787-13173761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13051572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 354 (V354F)
Ref Sequence ENSEMBL: ENSMUSP00000037113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036439]
AlphaFold P97326
PDB Structure Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036439
AA Change: V354F

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
AA Change: V354F

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign Het
Other mutations in Cdh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Cdh6 APN 15 13,034,445 (GRCm39) nonsense probably null
IGL00675:Cdh6 APN 15 13,041,525 (GRCm39) missense possibly damaging 0.80
IGL01063:Cdh6 APN 15 13,064,581 (GRCm39) missense probably damaging 1.00
IGL01335:Cdh6 APN 15 13,051,395 (GRCm39) missense probably benign 0.40
IGL01351:Cdh6 APN 15 13,034,326 (GRCm39) missense possibly damaging 0.55
IGL02010:Cdh6 APN 15 13,034,276 (GRCm39) utr 3 prime probably benign
IGL02428:Cdh6 APN 15 13,064,516 (GRCm39) missense possibly damaging 0.94
PIT4651001:Cdh6 UTSW 15 13,044,805 (GRCm39) missense possibly damaging 0.69
R0124:Cdh6 UTSW 15 13,034,410 (GRCm39) missense probably damaging 1.00
R0256:Cdh6 UTSW 15 13,053,868 (GRCm39) splice site probably benign
R0696:Cdh6 UTSW 15 13,051,418 (GRCm39) missense probably benign 0.36
R1017:Cdh6 UTSW 15 13,051,562 (GRCm39) missense probably benign 0.06
R1240:Cdh6 UTSW 15 13,057,541 (GRCm39) missense possibly damaging 0.48
R1444:Cdh6 UTSW 15 13,091,924 (GRCm39) missense probably benign 0.00
R2008:Cdh6 UTSW 15 13,051,562 (GRCm39) missense possibly damaging 0.74
R2050:Cdh6 UTSW 15 13,057,587 (GRCm39) missense probably benign
R2507:Cdh6 UTSW 15 13,041,447 (GRCm39) missense probably benign 0.10
R3082:Cdh6 UTSW 15 13,044,838 (GRCm39) missense probably damaging 1.00
R3083:Cdh6 UTSW 15 13,044,838 (GRCm39) missense probably damaging 1.00
R3903:Cdh6 UTSW 15 13,042,661 (GRCm39) missense probably benign 0.39
R4859:Cdh6 UTSW 15 13,051,418 (GRCm39) missense probably benign 0.36
R4898:Cdh6 UTSW 15 13,034,774 (GRCm39) missense probably damaging 0.99
R5242:Cdh6 UTSW 15 13,064,497 (GRCm39) missense probably benign 0.05
R5313:Cdh6 UTSW 15 13,034,723 (GRCm39) missense probably damaging 1.00
R5545:Cdh6 UTSW 15 13,041,235 (GRCm39) missense probably damaging 1.00
R6360:Cdh6 UTSW 15 13,041,546 (GRCm39) missense possibly damaging 0.82
R6650:Cdh6 UTSW 15 13,051,487 (GRCm39) missense probably benign 0.11
R6830:Cdh6 UTSW 15 13,044,860 (GRCm39) missense probably benign 0.01
R7369:Cdh6 UTSW 15 13,042,724 (GRCm39) missense probably damaging 0.99
R7506:Cdh6 UTSW 15 13,034,396 (GRCm39) missense probably damaging 1.00
R8121:Cdh6 UTSW 15 13,044,757 (GRCm39) missense probably damaging 1.00
R8801:Cdh6 UTSW 15 13,044,847 (GRCm39) missense probably damaging 1.00
R8961:Cdh6 UTSW 15 13,041,447 (GRCm39) missense probably benign 0.12
R9218:Cdh6 UTSW 15 13,057,556 (GRCm39) missense probably null 0.37
R9258:Cdh6 UTSW 15 13,064,462 (GRCm39) missense probably damaging 1.00
R9511:Cdh6 UTSW 15 13,034,677 (GRCm39) missense probably damaging 1.00
R9608:Cdh6 UTSW 15 13,064,621 (GRCm39) missense probably damaging 1.00
R9636:Cdh6 UTSW 15 13,057,655 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTATGAAAGAGACGGTGCCG -3'
(R):5'- CATTGCTCTAACGTGTGGTG -3'

Sequencing Primer
(F):5'- GGCGCACTTACTTGACAGGATTC -3'
(R):5'- GTGGTGATTTCCCTAAGCAGACC -3'
Posted On 2015-09-24