Incidental Mutation 'R1622:Cdh4'
ID 174692
Institutional Source Beutler Lab
Gene Symbol Cdh4
Ensembl Gene ENSMUSG00000000305
Gene Name cadherin 4
Synonyms R-Cadh, R-cadherin, Rcad
MMRRC Submission 039659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1622 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179084228-179541166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179530885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 589 (I589T)
Ref Sequence ENSEMBL: ENSMUSP00000000314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000098996]
AlphaFold P39038
Predicted Effect possibly damaging
Transcript: ENSMUST00000000314
AA Change: I589T

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: I589T

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
Meta Mutation Damage Score 0.1514 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,696 (GRCm39) E207G probably benign Het
Arhgap19 T A 19: 41,790,412 (GRCm39) S19C probably benign Het
Arhgef18 T A 8: 3,491,272 (GRCm39) D374E possibly damaging Het
Atf2 A G 2: 73,684,133 (GRCm39) probably null Het
Cadm1 A G 9: 47,725,139 (GRCm39) N300S probably benign Het
Ccdc159 A T 9: 21,840,666 (GRCm39) I78F possibly damaging Het
Clstn1 T C 4: 149,713,864 (GRCm39) I182T probably damaging Het
Cnga3 T A 1: 37,283,909 (GRCm39) probably benign Het
Cntln T A 4: 84,981,418 (GRCm39) S865R probably damaging Het
Col5a3 C T 9: 20,683,516 (GRCm39) G1552E unknown Het
Col6a4 A C 9: 105,874,334 (GRCm39) S2218A probably benign Het
Ephb1 T C 9: 101,878,910 (GRCm39) T527A probably benign Het
Fkbp15 T A 4: 62,241,439 (GRCm39) I569F possibly damaging Het
Gabra4 A G 5: 71,729,329 (GRCm39) S484P possibly damaging Het
Glce T C 9: 61,977,843 (GRCm39) I14V possibly damaging Het
Gm4884 A T 7: 40,692,265 (GRCm39) Q78L probably damaging Het
Gpn1 A G 5: 31,660,748 (GRCm39) T180A possibly damaging Het
Gpr6 A T 10: 40,947,288 (GRCm39) I98N probably damaging Het
Hcrtr2 T C 9: 76,230,722 (GRCm39) N22S probably benign Het
Hfm1 C T 5: 107,041,389 (GRCm39) V665I possibly damaging Het
Il4ra T A 7: 125,169,225 (GRCm39) I159N possibly damaging Het
Irf8 G C 8: 121,466,561 (GRCm39) C2S possibly damaging Het
Itih2 A T 2: 10,106,890 (GRCm39) N701K probably benign Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Mmp10 T A 9: 7,504,996 (GRCm39) Y263* probably null Het
Morc3 T A 16: 93,671,694 (GRCm39) M835K probably benign Het
Msh3 A G 13: 92,481,462 (GRCm39) probably null Het
Ncbp1 A G 4: 46,171,963 (GRCm39) H777R possibly damaging Het
Nfatc1 A G 18: 80,710,182 (GRCm39) M514T probably damaging Het
Nlrp3 T A 11: 59,439,302 (GRCm39) I293N probably damaging Het
Pank2 A T 2: 131,115,889 (GRCm39) E102D probably damaging Het
Pbrm1 A G 14: 30,754,505 (GRCm39) D175G probably benign Het
Pcdh9 T C 14: 94,123,311 (GRCm39) D953G probably benign Het
Pibf1 G A 14: 99,423,917 (GRCm39) V497I probably benign Het
Pkd1 G A 17: 24,800,614 (GRCm39) M3085I probably benign Het
Prss58 A T 6: 40,874,248 (GRCm39) C143S possibly damaging Het
Rassf8 A G 6: 145,765,829 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spag7 T A 11: 70,555,688 (GRCm39) D73V probably damaging Het
Sult3a1 A T 10: 33,746,246 (GRCm39) M189L probably benign Het
Syt4 T C 18: 31,577,069 (GRCm39) D95G probably damaging Het
Tbc1d8 A C 1: 39,419,317 (GRCm39) S766A probably benign Het
Tmco5 A T 2: 116,710,796 (GRCm39) M39L probably benign Het
Trcg1 A G 9: 57,155,955 (GRCm39) N797S possibly damaging Het
Trim34a A T 7: 103,910,545 (GRCm39) probably null Het
Ubr5 T C 15: 38,009,357 (GRCm39) probably benign Het
Urb2 A G 8: 124,756,363 (GRCm39) N690S probably benign Het
Zfp445 A G 9: 122,681,614 (GRCm39) Y776H possibly damaging Het
Zfp52 G A 17: 21,781,833 (GRCm39) M560I probably benign Het
Zfp608 A G 18: 55,121,366 (GRCm39) S74P probably benign Het
Zfp629 A G 7: 127,211,012 (GRCm39) C266R probably damaging Het
Zscan2 A G 7: 80,525,134 (GRCm39) K285R probably benign 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
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
R5791:Cdh4 UTSW 2 179,537,560 (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'- TGCCTAGCCTTGCTGAGAACTGTC -3'
(R):5'- TCTCCCCAGCCTGTATGAACAGTC -3'

Sequencing Primer
(F):5'- CTTGTAGAAGAGAAGGCATTCTCCC -3'
(R):5'- GGCTGGACCCTAAATACTTAGCTC -3'
Posted On 2014-04-24