Incidental Mutation 'R1826:Cdh1'
ID 206795
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 039853-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1826 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 107329983-107396878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107392898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 794 (M794T)
Ref Sequence ENSEMBL: ENSMUSP00000132112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000312] [ENSMUST00000167688]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000312
AA Change: M794T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: M794T

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 benign
Transcript: ENSMUST00000167688
AA Change: M794T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: M794T

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 0.1674 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 95% (116/122)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,810,453 (GRCm39) S917P probably benign Het
Acsbg1 C T 9: 54,529,840 (GRCm39) V256M possibly damaging Het
Adam34 T A 8: 44,104,379 (GRCm39) D422V probably damaging Het
Adam6a T A 12: 113,509,742 (GRCm39) V705E possibly damaging Het
Adamts12 C A 15: 11,071,606 (GRCm39) P50Q probably benign Het
Arfgap3 C T 15: 83,187,303 (GRCm39) probably null Het
Aspg T A 12: 112,089,852 (GRCm39) D463E probably damaging Het
Atad2b G A 12: 5,024,094 (GRCm39) S73N probably benign Het
Atp11a T C 8: 12,896,154 (GRCm39) L788P probably damaging Het
B3gnt8 T C 7: 25,328,188 (GRCm39) F206S probably damaging Het
Baz2b T C 2: 59,799,077 (GRCm39) E349G probably benign Het
Bmp2k A T 5: 97,209,261 (GRCm39) probably benign Het
Camta2 A G 11: 70,574,134 (GRCm39) F128L probably damaging Het
Ccdc88a A T 11: 29,439,637 (GRCm39) Q30L possibly damaging Het
Cdh5 A G 8: 104,857,723 (GRCm39) N383S possibly damaging Het
Cep85l T C 10: 53,224,908 (GRCm39) D227G possibly damaging Het
Clec4e A G 6: 123,260,591 (GRCm39) S156P probably damaging Het
Col10a1 G T 10: 34,270,645 (GRCm39) G206C probably damaging Het
Col4a2 T C 8: 11,363,509 (GRCm39) probably null Het
Copg2 A G 6: 30,789,777 (GRCm39) M517T probably benign Het
Cyp2f2 T A 7: 26,831,987 (GRCm39) L414Q probably damaging Het
Dact1 G A 12: 71,365,118 (GRCm39) G596D probably damaging Het
Dcaf13 T C 15: 38,982,294 (GRCm39) C87R probably damaging Het
Dchs1 T G 7: 105,406,834 (GRCm39) T2224P probably damaging Het
Dnah12 A G 14: 26,432,174 (GRCm39) M429V probably benign Het
Dppa2 G A 16: 48,137,711 (GRCm39) R231H probably damaging Het
Elavl4 T C 4: 110,108,489 (GRCm39) D78G probably damaging Het
Enthd1 T C 15: 80,358,482 (GRCm39) E346G probably damaging Het
Exoc3l A T 8: 106,020,250 (GRCm39) I225N probably damaging Het
Fasn C T 11: 120,699,325 (GRCm39) probably benign Het
Fbxl7 G A 15: 26,552,851 (GRCm39) R139C possibly damaging Het
Fbxw15 C A 9: 109,388,782 (GRCm39) probably null Het
Flnc A G 6: 29,455,184 (GRCm39) T1971A probably damaging Het
Fnip1 T G 11: 54,356,990 (GRCm39) V33G probably damaging Het
Foxn2 A G 17: 88,794,233 (GRCm39) E390G possibly damaging Het
Fry C T 5: 150,360,174 (GRCm39) S1940L possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gabrd T C 4: 155,470,943 (GRCm39) Y255C probably damaging Het
Garem1 A T 18: 21,262,509 (GRCm39) F768L probably benign Het
Gas2 T A 7: 51,593,421 (GRCm39) L167Q probably damaging Het
Gm16391 A G 17: 76,591,418 (GRCm39) noncoding transcript Het
Gm1979 A T 5: 26,206,240 (GRCm39) N113K probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Hdac4 T A 1: 91,912,421 (GRCm39) N352Y probably damaging Het
Hdac9 A G 12: 34,479,491 (GRCm39) probably benign Het
Hhipl2 G A 1: 183,217,253 (GRCm39) S673N probably benign Het
Iffo2 T A 4: 139,341,376 (GRCm39) S417T probably benign Het
Itgb5 G T 16: 33,685,930 (GRCm39) R90L possibly damaging Het
Jade1 T G 3: 41,567,648 (GRCm39) L572W probably damaging Het
Kcnh1 T A 1: 192,095,376 (GRCm39) M478K possibly damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnq4 T A 4: 120,561,701 (GRCm39) H456L probably benign Het
Kif9 C A 9: 110,346,701 (GRCm39) T613K probably benign Het
Krt36 T G 11: 99,993,856 (GRCm39) probably benign Het
Kyat3 A T 3: 142,428,940 (GRCm39) D89V possibly damaging Het
Lnpep A T 17: 17,783,098 (GRCm39) F568I probably damaging Het
Lpl T C 8: 69,354,943 (GRCm39) F444L possibly damaging Het
Lrp1 A T 10: 127,389,576 (GRCm39) V3153E probably damaging Het
Lrrn1 A T 6: 107,544,529 (GRCm39) N109I probably benign Het
Ltn1 A G 16: 87,212,504 (GRCm39) Y686H probably damaging Het
Mcoln2 A C 3: 145,881,227 (GRCm39) D166A possibly damaging Het
Ms4a6b A T 19: 11,501,298 (GRCm39) I103F probably damaging Het
Mtmr10 T G 7: 63,987,214 (GRCm39) S585A probably benign Het
Mx1 T C 16: 97,256,837 (GRCm39) N114S possibly damaging Het
Mysm1 A T 4: 94,858,923 (GRCm39) N75K probably benign Het
Nkx1-1 A G 5: 33,591,277 (GRCm39) V15A unknown Het
Nlrp1a G A 11: 71,013,573 (GRCm39) T559I possibly damaging Het
Nlrp1a T A 11: 70,998,806 (GRCm39) probably benign Het
Oas1f A G 5: 120,993,652 (GRCm39) K288R probably benign Het
Or10q1 T A 19: 13,726,711 (GRCm39) D80E probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or9e1 T A 11: 58,732,257 (GRCm39) C106S probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pcdhb5 C T 18: 37,454,522 (GRCm39) R301* probably null Het
Phf12 T C 11: 77,915,780 (GRCm39) probably benign Het
Pik3c2a C T 7: 115,967,352 (GRCm39) D862N probably benign Het
Pkhd1l1 T A 15: 44,366,741 (GRCm39) L740I possibly damaging Het
Ppp1r9a A T 6: 5,111,060 (GRCm39) probably benign Het
Prg4 T C 1: 150,327,760 (GRCm39) D820G probably benign Het
Prmt9 C T 8: 78,282,303 (GRCm39) Q67* probably null Het
Prob1 T C 18: 35,786,628 (GRCm39) E542G possibly damaging Het
Pttg1 A G 11: 43,311,193 (GRCm39) V188A probably damaging Het
Rassf1 T A 9: 107,435,392 (GRCm39) L260H probably damaging Het
Rbm5 T A 9: 107,619,613 (GRCm39) Q766L probably damaging Het
Rbms3 T A 9: 116,651,936 (GRCm39) Y137F probably damaging Het
Rccd1 T C 7: 79,969,966 (GRCm39) probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Setd4 T A 16: 93,388,187 (GRCm39) K100* probably null Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc16a1 G T 3: 104,558,255 (GRCm39) A91S probably benign Het
Slc36a1 A G 11: 55,111,279 (GRCm39) N133S probably benign Het
Ssxb16 T A X: 8,746,944 (GRCm39) Y133* probably null Het
Svil C T 18: 5,063,383 (GRCm39) P885S probably benign Het
Svop A T 5: 114,198,117 (GRCm39) probably null Het
Taar7d T C 10: 23,903,474 (GRCm39) Y119H probably damaging Het
Tasor2 T A 13: 3,631,759 (GRCm39) N914I probably damaging Het
Tgfb3 T C 12: 86,108,818 (GRCm39) T304A probably benign Het
Tmem94 C A 11: 115,684,039 (GRCm39) C786* probably null Het
Tnfrsf4 T A 4: 156,100,736 (GRCm39) probably null Het
Tns1 C A 1: 73,992,793 (GRCm39) M1I probably null Het
Trappc13 C T 13: 104,306,327 (GRCm39) probably null Het
Trim72 T C 7: 127,607,016 (GRCm39) F182L possibly damaging Het
Ttc6 T C 12: 57,707,033 (GRCm39) S647P probably benign Het
Tulp1 A G 17: 28,575,341 (GRCm39) L400P possibly damaging Het
Vegfc C T 8: 54,634,347 (GRCm39) T342M possibly damaging Het
Vit T A 17: 78,842,105 (GRCm39) V15E probably benign Het
Vps13d A T 4: 144,881,573 (GRCm39) M1334K probably damaging Het
Zfp280d T C 9: 72,206,062 (GRCm39) V23A probably damaging Het
Zfp608 A G 18: 55,031,648 (GRCm39) I764T probably benign Het
Zfp94 T C 7: 24,008,540 (GRCm39) Y33C probably damaging Het
Zfyve26 T A 12: 79,315,823 (GRCm39) I1218F 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
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
Predicted Primers PCR Primer
(F):5'- ATGCCATTTCATATGCATTTGGGC -3'
(R):5'- GGACATAGGCACAGTACAGC -3'

Sequencing Primer
(F):5'- GCTTTGTCCATCAGCATAGTCTGTG -3'
(R):5'- GCAACCACTGGAAGGTTCTC -3'
Posted On 2014-06-23