Incidental Mutation 'IGL01560:Cdh2'
ID 90811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh2
Ensembl Gene ENSMUSG00000024304
Gene Name cadherin 2
Synonyms N-CAD, N-cadherin, Ncad
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01560
Quality Score
Status
Chromosome 18
Chromosomal Location 16721934-16942303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16783495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 78 (D78G)
Ref Sequence ENSEMBL: ENSMUSP00000025166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025166] [ENSMUST00000115850]
AlphaFold P15116
PDB Structure STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
N-CADHERIN, TWO-DOMAIN FRAGMENT [X-RAY DIFFRACTION]
Solution Structure of Neural Cadherin Prodomain [SOLUTION NMR]
Crystal structure of N-cadherin domains EC12 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin ectodomain [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 A78SI92M [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 with AA insertion between residues 2 and 3 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 W2F [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025166
AA Change: D78G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: D78G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Cadherin_pro 31 123 5.77e-34 SMART
low complexity region 129 141 N/A INTRINSIC
CA 182 265 3.37e-17 SMART
CA 289 380 2.15e-33 SMART
CA 403 496 4.38e-16 SMART
CA 519 603 2.27e-23 SMART
CA 623 708 5.54e-2 SMART
transmembrane domain 724 746 N/A INTRINSIC
Pfam:Cadherin_C 753 903 6.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115850
AA Change: D21G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: D21G

DomainStartEndE-ValueType
Cadherin_pro 1 66 3.44e-9 SMART
low complexity region 72 84 N/A INTRINSIC
CA 125 208 3.37e-17 SMART
CA 232 323 2.15e-33 SMART
CA 346 439 4.38e-16 SMART
CA 462 546 2.27e-23 SMART
CA 566 651 5.54e-2 SMART
transmembrane domain 667 689 N/A INTRINSIC
Pfam:Cadherin_C 690 847 2.5e-57 PFAM
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. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Mice lacking the encoded protein exhibit severe developmental defects resulting in embryonic death. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape,and abnormal embryo turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,203,066 (GRCm39) I129N probably damaging Het
Arsb A G 13: 93,944,106 (GRCm39) I266V probably benign Het
Atp6v1b1 A G 6: 83,726,897 (GRCm39) probably benign Het
Cacna1d C T 14: 29,821,163 (GRCm39) V1118I probably benign Het
Cadps A T 14: 12,491,792 (GRCm38) V791D probably damaging Het
Fem1al A T 11: 29,774,643 (GRCm39) Y271* probably null Het
Flnb T G 14: 7,893,829 (GRCm38) I714S probably benign Het
Fzd1 A G 5: 4,806,037 (GRCm39) M515T probably benign Het
Lrpprc A T 17: 85,015,547 (GRCm39) F1288Y probably benign Het
Lrrk2 A G 15: 91,659,191 (GRCm39) I1868V probably benign Het
Mmel1 A G 4: 154,976,967 (GRCm39) D561G probably null Het
Mypn A T 10: 62,970,743 (GRCm39) V887E probably benign Het
Or4c118 C T 2: 88,974,947 (GRCm39) C140Y probably damaging Het
Or6p1 A T 1: 174,258,467 (GRCm39) M158L probably benign Het
Or7g28 T C 9: 19,271,842 (GRCm39) T270A probably benign Het
Osbpl5 C A 7: 143,269,430 (GRCm39) E49* probably null Het
Prpf8 A G 11: 75,381,232 (GRCm39) Q189R possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Six6 T A 12: 72,986,831 (GRCm39) M1K probably null Het
Slc13a4 A G 6: 35,248,538 (GRCm39) probably benign Het
Slc17a1 T A 13: 24,058,612 (GRCm39) I22N probably damaging Het
Thsd7b C T 1: 130,145,918 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,040,120 (GRCm39) I335V possibly damaging Het
Ttn T C 2: 76,602,016 (GRCm39) T18549A possibly damaging Het
Ugt2b37 G T 5: 87,399,698 (GRCm39) P270Q probably damaging Het
Wdfy3 A T 5: 102,105,352 (GRCm39) Y158* probably null Het
Zfp282 A T 6: 47,857,211 (GRCm39) E148V probably damaging Het
Other mutations in Cdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Cdh2 APN 18 16,760,693 (GRCm39) missense possibly damaging 0.69
IGL02028:Cdh2 APN 18 16,783,477 (GRCm39) missense probably benign 0.07
IGL02227:Cdh2 APN 18 16,762,643 (GRCm39) missense probably benign 0.01
IGL02229:Cdh2 APN 18 16,757,810 (GRCm39) missense probably benign
IGL02617:Cdh2 APN 18 16,760,661 (GRCm39) missense probably damaging 1.00
IGL02685:Cdh2 APN 18 16,779,557 (GRCm39) missense probably damaging 1.00
IGL02724:Cdh2 APN 18 16,762,537 (GRCm39) missense probably benign 0.29
R0111:Cdh2 UTSW 18 16,907,566 (GRCm39) missense probably benign
R0173:Cdh2 UTSW 18 16,783,314 (GRCm39) splice site probably benign
R0197:Cdh2 UTSW 18 16,762,633 (GRCm39) missense probably benign
R0563:Cdh2 UTSW 18 16,762,738 (GRCm39) missense possibly damaging 0.90
R0883:Cdh2 UTSW 18 16,762,633 (GRCm39) missense probably benign
R1083:Cdh2 UTSW 18 16,777,016 (GRCm39) missense possibly damaging 0.61
R1270:Cdh2 UTSW 18 16,760,614 (GRCm39) splice site probably benign
R1469:Cdh2 UTSW 18 16,757,324 (GRCm39) missense possibly damaging 0.92
R1469:Cdh2 UTSW 18 16,757,324 (GRCm39) missense possibly damaging 0.92
R1510:Cdh2 UTSW 18 16,781,651 (GRCm39) missense probably benign
R1875:Cdh2 UTSW 18 16,757,934 (GRCm39) missense probably benign
R2122:Cdh2 UTSW 18 16,907,600 (GRCm39) missense probably benign 0.01
R2194:Cdh2 UTSW 18 16,773,505 (GRCm39) missense probably damaging 1.00
R2254:Cdh2 UTSW 18 16,776,985 (GRCm39) critical splice donor site probably null
R4471:Cdh2 UTSW 18 16,907,533 (GRCm39) splice site probably null
R4501:Cdh2 UTSW 18 16,762,642 (GRCm39) missense possibly damaging 0.53
R4620:Cdh2 UTSW 18 16,781,665 (GRCm39) missense probably benign
R4832:Cdh2 UTSW 18 16,760,754 (GRCm39) missense probably benign 0.01
R4944:Cdh2 UTSW 18 16,783,466 (GRCm39) missense probably damaging 0.99
R4958:Cdh2 UTSW 18 16,760,622 (GRCm39) splice site probably null
R5160:Cdh2 UTSW 18 16,762,644 (GRCm39) missense probably damaging 0.99
R5190:Cdh2 UTSW 18 16,783,372 (GRCm39) missense possibly damaging 0.54
R5446:Cdh2 UTSW 18 16,779,684 (GRCm39) missense probably damaging 1.00
R5552:Cdh2 UTSW 18 16,773,520 (GRCm39) missense possibly damaging 0.88
R5699:Cdh2 UTSW 18 16,779,579 (GRCm39) nonsense probably null
R5912:Cdh2 UTSW 18 16,773,507 (GRCm39) missense possibly damaging 0.79
R5949:Cdh2 UTSW 18 16,734,687 (GRCm39) missense probably damaging 1.00
R6313:Cdh2 UTSW 18 16,907,579 (GRCm39) missense probably benign 0.00
R6633:Cdh2 UTSW 18 16,773,605 (GRCm39) missense probably benign 0.00
R7822:Cdh2 UTSW 18 16,757,341 (GRCm39) missense probably benign 0.24
R8022:Cdh2 UTSW 18 16,723,358 (GRCm39) missense probably damaging 1.00
R8142:Cdh2 UTSW 18 16,734,791 (GRCm39) missense probably benign 0.00
R8152:Cdh2 UTSW 18 16,762,576 (GRCm39) missense probably benign 0.02
R8188:Cdh2 UTSW 18 16,781,593 (GRCm39) missense probably damaging 1.00
R8461:Cdh2 UTSW 18 16,783,522 (GRCm39) missense probably benign 0.44
R8491:Cdh2 UTSW 18 16,757,775 (GRCm39) critical splice donor site probably null
R9246:Cdh2 UTSW 18 16,781,654 (GRCm39) nonsense probably null
R9477:Cdh2 UTSW 18 16,755,212 (GRCm39) missense probably damaging 1.00
R9530:Cdh2 UTSW 18 16,783,466 (GRCm39) missense probably damaging 0.99
R9581:Cdh2 UTSW 18 16,803,112 (GRCm39) start gained probably benign
Posted On 2013-12-09