Incidental Mutation 'R5791:Cdh4'
ID 446961
Institutional Source Beutler Lab
Gene Symbol Cdh4
Ensembl Gene ENSMUSG00000000305
Gene Name cadherin 4
Synonyms R-Cadh, R-cadherin, Rcad
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 179084228-179541166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179537560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 864 (V864A)
Ref Sequence ENSEMBL: ENSMUSP00000000314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000098996]
AlphaFold P39038
Predicted Effect probably damaging
Transcript: ENSMUST00000000314
AA Change: V864A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: V864A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Cadherin_pro 30 121 1.18e-30 SMART
CA 187 272 2.31e-15 SMART
CA 296 387 4.33e-29 SMART
CA 410 503 2.21e-12 SMART
CA 526 610 7.16e-21 SMART
CA 630 715 3.78e-2 SMART
transmembrane domain 730 752 N/A INTRINSIC
Pfam:Cadherin_C 760 909 2.5e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129659
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown Het
Other mutations in Cdh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Cdh4 APN 2 179,515,937 (GRCm39) missense probably damaging 1.00
IGL01411:Cdh4 APN 2 179,422,196 (GRCm39) missense probably damaging 0.96
IGL01752:Cdh4 APN 2 179,532,677 (GRCm39) missense probably damaging 1.00
IGL02814:Cdh4 APN 2 179,422,267 (GRCm39) missense probably benign 0.01
R0082:Cdh4 UTSW 2 179,535,981 (GRCm39) missense possibly damaging 0.75
R0357:Cdh4 UTSW 2 179,489,133 (GRCm39) missense probably damaging 1.00
R1521:Cdh4 UTSW 2 179,439,351 (GRCm39) missense probably damaging 1.00
R1591:Cdh4 UTSW 2 179,528,657 (GRCm39) critical splice donor site probably null
R1622:Cdh4 UTSW 2 179,530,885 (GRCm39) missense possibly damaging 0.56
R1762:Cdh4 UTSW 2 179,439,273 (GRCm39) missense probably benign 0.01
R1794:Cdh4 UTSW 2 179,528,635 (GRCm39) missense probably damaging 1.00
R2275:Cdh4 UTSW 2 179,532,640 (GRCm39) missense probably damaging 1.00
R2277:Cdh4 UTSW 2 179,439,317 (GRCm39) missense possibly damaging 0.88
R3686:Cdh4 UTSW 2 179,422,160 (GRCm39) missense probably benign 0.09
R3861:Cdh4 UTSW 2 179,515,890 (GRCm39) missense probably damaging 1.00
R4078:Cdh4 UTSW 2 179,530,966 (GRCm39) missense possibly damaging 0.93
R4495:Cdh4 UTSW 2 179,422,182 (GRCm39) missense probably damaging 0.98
R4715:Cdh4 UTSW 2 179,422,260 (GRCm39) missense probably benign 0.03
R4893:Cdh4 UTSW 2 179,489,212 (GRCm39) intron probably benign
R5029:Cdh4 UTSW 2 179,523,742 (GRCm39) missense possibly damaging 0.93
R5363:Cdh4 UTSW 2 179,528,556 (GRCm39) missense probably benign
R5542:Cdh4 UTSW 2 179,502,019 (GRCm39) missense probably damaging 0.98
R5773:Cdh4 UTSW 2 179,527,789 (GRCm39) missense probably damaging 1.00
R6262:Cdh4 UTSW 2 179,439,419 (GRCm39) missense probably damaging 1.00
R6338:Cdh4 UTSW 2 179,532,605 (GRCm39) missense probably damaging 1.00
R6589:Cdh4 UTSW 2 179,523,789 (GRCm39) critical splice donor site probably null
R6607:Cdh4 UTSW 2 179,515,889 (GRCm39) missense probably benign 0.00
R6653:Cdh4 UTSW 2 179,422,221 (GRCm39) missense probably benign 0.34
R6711:Cdh4 UTSW 2 179,532,724 (GRCm39) missense probably damaging 1.00
R6744:Cdh4 UTSW 2 179,489,180 (GRCm39) missense possibly damaging 0.68
R6824:Cdh4 UTSW 2 179,439,351 (GRCm39) missense probably damaging 1.00
R6901:Cdh4 UTSW 2 179,501,987 (GRCm39) missense probably benign 0.19
R6981:Cdh4 UTSW 2 179,439,297 (GRCm39) missense probably benign 0.28
R7285:Cdh4 UTSW 2 179,439,258 (GRCm39) missense probably benign 0.00
R7514:Cdh4 UTSW 2 179,532,636 (GRCm39) missense possibly damaging 0.91
R7541:Cdh4 UTSW 2 179,086,603 (GRCm39) splice site probably null
R7560:Cdh4 UTSW 2 179,532,695 (GRCm39) missense probably benign 0.25
R8146:Cdh4 UTSW 2 179,515,871 (GRCm39) missense possibly damaging 0.91
R8833:Cdh4 UTSW 2 179,535,828 (GRCm39) missense possibly damaging 0.61
R9075:Cdh4 UTSW 2 179,501,940 (GRCm39) missense probably damaging 0.97
R9203:Cdh4 UTSW 2 179,422,196 (GRCm39) missense probably damaging 0.96
Z1177:Cdh4 UTSW 2 179,422,119 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- TTGGTCCTTGGAAATATCCCACAG -3'
(R):5'- AGTGCCCTTCTTGCATTGG -3'

Sequencing Primer
(F):5'- GAGTGCCTACTGTATGCAAGATCC -3'
(R):5'- CCCTTCTTGCATTGGTGGTGAG -3'
Posted On 2016-12-15