Incidental Mutation 'IGL01411:Cdh4'
ID 80039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh4
Ensembl Gene ENSMUSG00000000305
Gene Name cadherin 4
Synonyms R-Cadh, Rcad, R-cadherin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01411
Quality Score
Status
Chromosome 2
Chromosomal Location 179442431-179899373 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179780403 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 107 (R107C)
Ref Sequence ENSEMBL: ENSMUSP00000104539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000108911]
AlphaFold P39038
Predicted Effect possibly damaging
Transcript: ENSMUST00000000314
AA Change: R107C

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: R107C

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 damaging
Transcript: ENSMUST00000108911
AA Change: R107C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104539
Gene: ENSMUSG00000000305
AA Change: R107C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Cadherin_pro 30 121 1.18e-30 SMART
CA 187 272 2.31e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136411
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. 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,911,229 E36K possibly damaging Het
Alox8 A T 11: 69,188,690 S257R probably benign Het
Apc2 T C 10: 80,315,078 S1960P probably damaging Het
Arhgap35 T C 7: 16,564,267 N291S probably benign Het
AW551984 A T 9: 39,593,791 D468E possibly damaging Het
B3gnt6 A C 7: 98,194,523 F77V probably damaging Het
C1qtnf7 A T 5: 43,609,061 M1L probably benign Het
Calm3 T C 7: 16,917,484 T63A probably benign Het
Ccdc33 G A 9: 58,117,636 probably benign Het
Cdr2l A G 11: 115,382,366 E15G probably damaging Het
Chil6 A G 3: 106,388,825 W365R probably damaging Het
Ckap5 G T 2: 91,601,011 R1525L probably benign Het
Col6a6 T A 9: 105,785,958 K127* probably null Het
Dclre1b A G 3: 103,803,323 V298A probably damaging Het
Fat1 T A 8: 45,026,800 V2961E probably damaging Het
Fhit T C 14: 9,573,483 D126G probably benign Het
Gpc1 T C 1: 92,857,014 F303S probably damaging Het
Hsd17b4 T A 18: 50,191,814 V698D probably damaging Het
Itpr2 C T 6: 146,376,062 probably null Het
Klhl4 A T X: 114,522,394 D168V probably damaging Het
Krt42 A G 11: 100,263,341 L405P possibly damaging Het
Lrp1 A T 10: 127,581,765 C85* probably null Het
Lrp2 A G 2: 69,482,267 L2559P probably damaging Het
Maob T G X: 16,712,569 R448S possibly damaging Het
Mast3 A G 8: 70,779,583 V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,970,727 V286M probably damaging Het
Mlip A G 9: 77,239,417 I198T possibly damaging Het
Mocs3 T C 2: 168,231,377 V248A probably damaging Het
Nxf2 T A X: 134,952,112 R367S probably benign Het
Olfr1404 T G 1: 173,216,128 V159G probably benign Het
Olfr617 T C 7: 103,584,117 W32R probably damaging Het
Parva T C 7: 112,577,010 probably benign Het
Pot1a A T 6: 25,750,144 probably benign Het
Ptpra T C 2: 130,544,439 I603T probably damaging Het
Rad9a T C 19: 4,201,337 K33E probably benign Het
Rimbp3 A G 16: 17,211,094 D794G probably damaging Het
Sept5 G A 16: 18,624,930 R90C probably damaging Het
Skint8 T A 4: 111,936,906 N164K probably damaging Het
Slc30a3 T G 5: 31,090,080 I73L probably benign Het
Stab2 A T 10: 86,980,008 probably benign Het
Tnc C T 4: 64,000,722 V1155M probably damaging Het
Ttc13 T G 8: 124,683,285 Q525P probably damaging Het
Ttn T C 2: 76,720,135 E31601G probably damaging Het
Unc5a A T 13: 55,002,928 D577V probably damaging Het
Usp18 G A 6: 121,261,421 V176M probably benign Het
Vmn1r184 T C 7: 26,266,895 V22A probably benign Het
Vmn1r33 T A 6: 66,611,881 I230F probably damaging Het
Vmn1r51 A G 6: 90,129,404 I101V probably benign Het
Vmn2r108 T A 17: 20,471,020 M414L probably benign Het
Vmn2r87 A C 10: 130,472,560 V603G probably benign Het
Wt1 A G 2: 105,132,974 Y16C probably damaging Het
Wwp2 C T 8: 107,506,345 T159I probably benign Het
Xirp2 T C 2: 67,514,083 F2223L probably benign Het
Zan T A 5: 137,388,893 H4966L unknown Het
Other mutations in Cdh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Cdh4 APN 2 179874144 missense probably damaging 1.00
IGL01752:Cdh4 APN 2 179890884 missense probably damaging 1.00
IGL02814:Cdh4 APN 2 179780474 missense probably benign 0.01
R0082:Cdh4 UTSW 2 179894188 missense possibly damaging 0.75
R0357:Cdh4 UTSW 2 179847340 missense probably damaging 1.00
R1521:Cdh4 UTSW 2 179797558 missense probably damaging 1.00
R1591:Cdh4 UTSW 2 179886864 critical splice donor site probably null
R1622:Cdh4 UTSW 2 179889092 missense possibly damaging 0.56
R1762:Cdh4 UTSW 2 179797480 missense probably benign 0.01
R1794:Cdh4 UTSW 2 179886842 missense probably damaging 1.00
R2275:Cdh4 UTSW 2 179890847 missense probably damaging 1.00
R2277:Cdh4 UTSW 2 179797524 missense possibly damaging 0.88
R3686:Cdh4 UTSW 2 179780367 missense probably benign 0.09
R3861:Cdh4 UTSW 2 179874097 missense probably damaging 1.00
R4078:Cdh4 UTSW 2 179889173 missense possibly damaging 0.93
R4495:Cdh4 UTSW 2 179780389 missense probably damaging 0.98
R4715:Cdh4 UTSW 2 179780467 missense probably benign 0.03
R4893:Cdh4 UTSW 2 179847419 intron probably benign
R5029:Cdh4 UTSW 2 179881949 missense possibly damaging 0.93
R5363:Cdh4 UTSW 2 179886763 missense probably benign
R5542:Cdh4 UTSW 2 179860226 missense probably damaging 0.98
R5773:Cdh4 UTSW 2 179885996 missense probably damaging 1.00
R5791:Cdh4 UTSW 2 179895767 missense probably damaging 1.00
R6262:Cdh4 UTSW 2 179797626 missense probably damaging 1.00
R6338:Cdh4 UTSW 2 179890812 missense probably damaging 1.00
R6589:Cdh4 UTSW 2 179881996 critical splice donor site probably null
R6607:Cdh4 UTSW 2 179874096 missense probably benign 0.00
R6653:Cdh4 UTSW 2 179780428 missense probably benign 0.34
R6711:Cdh4 UTSW 2 179890931 missense probably damaging 1.00
R6744:Cdh4 UTSW 2 179847387 missense possibly damaging 0.68
R6824:Cdh4 UTSW 2 179797558 missense probably damaging 1.00
R6901:Cdh4 UTSW 2 179860194 missense probably benign 0.19
R6981:Cdh4 UTSW 2 179797504 missense probably benign 0.28
R7285:Cdh4 UTSW 2 179797465 missense probably benign 0.00
R7514:Cdh4 UTSW 2 179890843 missense possibly damaging 0.91
R7541:Cdh4 UTSW 2 179444810 splice site probably null
R7560:Cdh4 UTSW 2 179890902 missense probably benign 0.25
R8146:Cdh4 UTSW 2 179874078 missense possibly damaging 0.91
R8833:Cdh4 UTSW 2 179894035 missense possibly damaging 0.61
R9075:Cdh4 UTSW 2 179860147 missense probably damaging 0.97
R9203:Cdh4 UTSW 2 179780403 missense probably damaging 0.96
Z1177:Cdh4 UTSW 2 179780326 missense probably benign 0.45
Posted On 2013-11-05