Incidental Mutation 'R2761:Cdh1'
ID 254046
Institutional Source Beutler Lab
Gene Symbol Cdh1
Ensembl Gene ENSMUSG00000000303
Gene Name cadherin 1
Synonyms Ecad, E-cadherin, uvomorulin, UM, E-cad, L-CAM
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2761 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107329983-107396878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107380481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 208 (I208N)
Ref Sequence ENSEMBL: ENSMUSP00000132112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000312] [ENSMUST00000167688]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000000312
AA Change: I208N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: I208N

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 noncoding transcript
Transcript: ENSMUST00000136580
Predicted Effect possibly damaging
Transcript: ENSMUST00000167688
AA Change: I208N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: I208N

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,541 (GRCm39) V910A probably damaging Het
1700123K08Rik T C 5: 138,562,436 (GRCm39) T102A possibly damaging Het
Acoxl T C 2: 127,719,733 (GRCm39) Y165H probably benign Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Col11a2 A G 17: 34,270,000 (GRCm39) I477V probably damaging Het
Cpa2 A G 6: 30,554,193 (GRCm39) D271G probably damaging Het
Dzank1 T C 2: 144,355,369 (GRCm39) M109V probably benign Het
Hdac3 A T 18: 38,078,779 (GRCm39) S111T probably benign Het
Kremen1 GGG GGGTGG 11: 5,151,792 (GRCm39) probably benign Het
Krt31 T C 11: 99,938,691 (GRCm39) T301A probably benign Het
Rad21 T A 15: 51,846,039 (GRCm39) K10N probably damaging Het
Snap47 T C 11: 59,328,885 (GRCm39) D139G probably benign Het
Tango6 C A 8: 107,425,664 (GRCm39) T408N possibly 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
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
R6254:Cdh1 UTSW 8 107,390,430 (GRCm39) missense probably damaging 1.00
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'- GCGAATTTCCAAAGAACCTGG -3'
(R):5'- AGCTACTTATATGTCCAGGGCATC -3'

Sequencing Primer
(F):5'- CGAATTTCCAAAGAACCTGGTTCAG -3'
(R):5'- TATATGTCCAGGGCATCCAAACTGG -3'
Posted On 2014-12-04