Incidental Mutation 'IGL01901:Cdh1'
ID 179524
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01901
Quality Score
Status
Chromosome 8
Chromosomal Location 107329983-107396878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107384392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 287 (S287P)
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: S287P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: S287P

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 probably damaging
Transcript: ENSMUST00000167688
AA Change: S287P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: S287P

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,272,678 (GRCm39) probably benign Het
Aldh1a7 T G 19: 20,695,103 (GRCm39) Y154S probably damaging Het
Casc3 A G 11: 98,713,947 (GRCm39) D393G probably damaging Het
Cd180 A G 13: 102,842,936 (GRCm39) I661V probably benign Het
Clnk T C 5: 38,952,321 (GRCm39) N6S probably damaging Het
Cstdc6 C A 16: 36,154,625 (GRCm39) A11S probably damaging Het
Cyp17a1 C T 19: 46,659,531 (GRCm39) V100M possibly damaging Het
Ddhd2 A G 8: 26,238,621 (GRCm39) V53A probably damaging Het
Elovl7 T A 13: 108,410,927 (GRCm39) probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm14180 A G 11: 99,625,053 (GRCm39) S22P unknown Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Golga5 G A 12: 102,446,061 (GRCm39) probably null Het
Gpr162 A T 6: 124,838,370 (GRCm39) F93L possibly damaging Het
Kcnh8 G A 17: 53,201,148 (GRCm39) probably benign Het
Lamp3 A T 16: 19,492,169 (GRCm39) F358L probably damaging Het
Mdn1 T G 4: 32,669,591 (GRCm39) D409E probably damaging Het
Ms4a10 T C 19: 10,940,374 (GRCm39) D211G probably benign Het
Ms4a3 T C 19: 11,616,630 (GRCm39) E4G possibly damaging Het
Myo15a A G 11: 60,418,260 (GRCm39) probably benign Het
Or2ag16 A G 7: 106,351,752 (GRCm39) V281A possibly damaging Het
Or4c10b A G 2: 89,711,826 (GRCm39) I219V probably damaging Het
Or51aa2 A T 7: 103,188,177 (GRCm39) L88Q probably damaging Het
Or51q1c A G 7: 103,653,274 (GRCm39) H264R probably damaging Het
Or5b12 T C 19: 12,896,947 (GRCm39) H242R probably damaging Het
Or6c217 A G 10: 129,737,722 (GRCm39) F286L probably benign Het
Penk T C 4: 4,134,465 (GRCm39) I61V probably benign Het
Pkhd1 T A 1: 20,290,307 (GRCm39) K2860N probably benign Het
Prtg C T 9: 72,762,348 (GRCm39) P492S probably damaging Het
Spata31e2 A G 1: 26,721,665 (GRCm39) F1172L probably benign Het
Tdrd7 T C 4: 45,989,225 (GRCm39) probably benign Het
Terf2ip A G 8: 112,738,700 (GRCm39) N196S probably benign Het
Tgtp1 T C 11: 48,878,382 (GRCm39) N108D possibly damaging Het
Thumpd3 A G 6: 113,036,932 (GRCm39) H277R probably benign Het
Tshz2 T A 2: 169,727,456 (GRCm39) L215Q possibly damaging Het
Ube3c T A 5: 29,873,005 (GRCm39) V1015E probably damaging Het
Utrn T A 10: 12,516,672 (GRCm39) K2307N probably damaging Het
Vmn1r75 A G 7: 11,614,739 (GRCm39) Y157C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript 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
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
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
Posted On 2014-05-07