Incidental Mutation 'R6254:Cdh1'
ID 505990
Institutional Source Beutler Lab
Gene Symbol Cdh1
Ensembl Gene ENSMUSG00000000303
Gene Name cadherin 1
Synonyms Ecad, E-cadherin, uvomorulin, UM, E-cad, L-CAM
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 107329983-107396878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107390430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 590 (V590D)
Ref Sequence ENSEMBL: ENSMUSP00000132112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000312] [ENSMUST00000167688]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000312
AA Change: V590D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: V590D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Cadherin_pro 29 118 3.42e-36 SMART
low complexity region 123 131 N/A INTRINSIC
CA 179 262 2.27e-14 SMART
CA 286 375 3.18e-27 SMART
CA 398 487 2e-10 SMART
CA 510 595 1.49e-18 SMART
Pfam:Cadherin 600 688 5.3e-11 PFAM
transmembrane domain 711 733 N/A INTRINSIC
Pfam:Cadherin_C 734 881 1.3e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167688
AA Change: V590D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: V590D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Cadherin_pro 29 118 3.42e-36 SMART
low complexity region 123 131 N/A INTRINSIC
CA 179 262 2.27e-14 SMART
CA 286 375 3.18e-27 SMART
CA 398 487 2e-10 SMART
CA 510 595 1.49e-18 SMART
Pfam:Cadherin 600 688 7.1e-10 PFAM
transmembrane domain 711 733 N/A INTRINSIC
Pfam:Cadherin_C 738 880 3.9e-50 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: This gene encodes E-cadherin, a calcium-dependent cell adhesion molecule that functions in the establishment and maintenance of epithelial cell morphology during embryongenesis and adulthood. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Targeted mutations disrupting binding of calcium to the encoded protein in mice cause death in utero due to failed blastocyst and trophectoderm formation. This gene is located adjacent to a related cadherin gene on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging Het
Other mutations in Cdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Cdh1 APN 8 107,387,516 (GRCm39) missense probably damaging 1.00
IGL01405:Cdh1 APN 8 107,375,633 (GRCm39) missense probably damaging 0.97
IGL01410:Cdh1 APN 8 107,384,485 (GRCm39) missense probably benign 0.19
IGL01901:Cdh1 APN 8 107,384,392 (GRCm39) missense probably damaging 0.99
IGL02197:Cdh1 APN 8 107,380,418 (GRCm39) missense probably benign 0.29
IGL02580:Cdh1 APN 8 107,375,650 (GRCm39) missense probably benign 0.01
IGL02690:Cdh1 APN 8 107,384,516 (GRCm39) missense probably damaging 1.00
IGL02732:Cdh1 APN 8 107,392,955 (GRCm39) missense probably damaging 1.00
IGL02927:Cdh1 APN 8 107,395,143 (GRCm39) missense probably damaging 1.00
R1777:Cdh1 UTSW 8 107,383,467 (GRCm39) missense probably damaging 1.00
R1826:Cdh1 UTSW 8 107,392,898 (GRCm39) missense probably benign 0.03
R1892:Cdh1 UTSW 8 107,390,882 (GRCm39) missense possibly damaging 0.72
R2045:Cdh1 UTSW 8 107,392,814 (GRCm39) splice site probably benign
R2100:Cdh1 UTSW 8 107,386,300 (GRCm39) missense possibly damaging 0.57
R2104:Cdh1 UTSW 8 107,380,391 (GRCm39) splice site probably benign
R2118:Cdh1 UTSW 8 107,390,842 (GRCm39) missense probably benign
R2121:Cdh1 UTSW 8 107,390,842 (GRCm39) missense probably benign
R2124:Cdh1 UTSW 8 107,390,842 (GRCm39) missense probably benign
R2125:Cdh1 UTSW 8 107,383,472 (GRCm39) missense probably damaging 0.99
R2163:Cdh1 UTSW 8 107,375,713 (GRCm39) missense probably benign 0.01
R2165:Cdh1 UTSW 8 107,390,953 (GRCm39) missense probably damaging 1.00
R2266:Cdh1 UTSW 8 107,388,635 (GRCm39) missense probably benign
R2761:Cdh1 UTSW 8 107,380,481 (GRCm39) missense possibly damaging 0.90
R4547:Cdh1 UTSW 8 107,390,535 (GRCm39) missense probably damaging 1.00
R5131:Cdh1 UTSW 8 107,390,430 (GRCm39) missense possibly damaging 0.95
R5767:Cdh1 UTSW 8 107,395,187 (GRCm39) missense probably damaging 0.97
R5931:Cdh1 UTSW 8 107,392,964 (GRCm39) critical splice donor site probably null
R6397:Cdh1 UTSW 8 107,330,922 (GRCm39) missense possibly damaging 0.81
R6888:Cdh1 UTSW 8 107,384,946 (GRCm39) missense probably benign 0.09
R6928:Cdh1 UTSW 8 107,387,642 (GRCm39) missense possibly damaging 0.93
R6995:Cdh1 UTSW 8 107,387,545 (GRCm39) missense probably benign 0.02
R7110:Cdh1 UTSW 8 107,395,176 (GRCm39) missense possibly damaging 0.87
R8069:Cdh1 UTSW 8 107,384,405 (GRCm39) missense probably benign 0.26
R8260:Cdh1 UTSW 8 107,330,979 (GRCm39) missense probably benign 0.01
R8387:Cdh1 UTSW 8 107,390,501 (GRCm39) missense probably benign 0.02
R8762:Cdh1 UTSW 8 107,386,336 (GRCm39) missense probably damaging 1.00
R8881:Cdh1 UTSW 8 107,392,904 (GRCm39) missense probably benign 0.00
R8888:Cdh1 UTSW 8 107,330,971 (GRCm39) missense probably damaging 1.00
R8928:Cdh1 UTSW 8 107,392,870 (GRCm39) small deletion probably benign
R8929:Cdh1 UTSW 8 107,392,870 (GRCm39) small deletion probably benign
R8930:Cdh1 UTSW 8 107,392,870 (GRCm39) small deletion probably benign
R8932:Cdh1 UTSW 8 107,392,870 (GRCm39) small deletion probably benign
R9211:Cdh1 UTSW 8 107,390,962 (GRCm39) missense probably benign 0.01
R9472:Cdh1 UTSW 8 107,380,248 (GRCm39) missense probably damaging 1.00
R9649:Cdh1 UTSW 8 107,388,604 (GRCm39) missense possibly damaging 0.87
Z1177:Cdh1 UTSW 8 107,383,471 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGTCAGAAAGCCGAGACAAG -3'
(R):5'- GGCAGAGCCTCTCTAAAGACAG -3'

Sequencing Primer
(F):5'- GACAAGGACAGAGCGCC -3'
(R):5'- TCTCTAAAGACAGCGAGCCTTC -3'
Posted On 2018-02-28