Incidental Mutation 'IGL02028:Cdh2'
ID 184243
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 # IGL02028
Quality Score
Status
Chromosome 18
Chromosomal Location 16721934-16942303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16783477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
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: D84G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: D84G

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: D27G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: D27G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Cdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Cdh2 APN 18 16,760,693 (GRCm39) missense possibly damaging 0.69
IGL01560:Cdh2 APN 18 16,783,495 (GRCm39) missense probably benign 0.01
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 2014-05-07