Incidental Mutation 'R0197:Cdh2'
ID 23523
Institutional Source Beutler Lab
Gene Symbol Cdh2
Ensembl Gene ENSMUSG00000024304
Gene Name cadherin 2
Synonyms N-CAD, N-cadherin, Ncad
MMRRC Submission 038456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0197 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 16721934-16942303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16762633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 437 (N437S)
Ref Sequence ENSEMBL: ENSMUSP00000111516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025166] [ENSMUST00000115850]
AlphaFold P15116
Predicted Effect probably benign
Transcript: ENSMUST00000025166
AA Change: N494S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: N494S

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: N437S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: N437S

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
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.5%
  • 20x: 75.9%
Validation Efficiency 97% (121/125)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
Abcc2 A T 19: 43,815,053 (GRCm39) R1147* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Aldh9a1 A G 1: 167,189,416 (GRCm39) D388G probably damaging Het
Ap3d1 G T 10: 80,565,876 (GRCm39) A97E probably damaging Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Baiap2l1 C A 5: 144,202,820 (GRCm39) V498L probably damaging Het
Bltp2 A C 11: 78,160,530 (GRCm39) probably benign Het
Cert1 T A 13: 96,685,795 (GRCm39) Y63N probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap20dc C T 14: 8,518,695 (GRCm38) G254R probably damaging Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Dlx5 T C 6: 6,881,619 (GRCm39) K90E possibly damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Espnl T G 1: 91,272,211 (GRCm39) Y524D probably damaging Het
Fam20c T C 5: 138,741,479 (GRCm39) L30P probably damaging Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Gabrg1 A T 5: 70,931,732 (GRCm39) V337D probably damaging Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gcc1 T C 6: 28,420,615 (GRCm39) H234R probably damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Glt6d1 A G 2: 25,684,082 (GRCm39) I308T probably benign Het
Gm10320 T C 13: 98,628,491 (GRCm39) T7A probably benign Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gmpr2 T A 14: 55,910,192 (GRCm39) D7E possibly damaging Het
Hc A G 2: 34,874,762 (GRCm39) Y1620H probably damaging Het
Hoxa3 T C 6: 52,147,123 (GRCm39) probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kdr G T 5: 76,129,082 (GRCm39) T188N possibly damaging Het
Lepr A T 4: 101,609,349 (GRCm39) D312V possibly damaging Het
Mcm3 A G 1: 20,880,329 (GRCm39) V501A probably damaging Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Ndrg2 T A 14: 52,144,460 (GRCm39) probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Onecut2 T A 18: 64,474,543 (GRCm39) S365T possibly damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Pds5b C A 5: 150,677,896 (GRCm39) Q505K probably benign Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Samd3 T A 10: 26,147,752 (GRCm39) C476S possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Smpd4 T A 16: 17,459,461 (GRCm39) probably null Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Svep1 T C 4: 58,070,851 (GRCm39) K2312E possibly damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp24 T A 4: 106,264,330 (GRCm39) W1754R probably damaging Het
Utp20 G A 10: 88,613,378 (GRCm39) P1301L probably benign Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vps41 T G 13: 19,038,833 (GRCm39) probably null Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTCCACACAGGGCATAGAACAGAATC -3'
(R):5'- TGTTTTGGAAACGAGACTCAGAGACAG -3'

Sequencing Primer
(F):5'- TGCATATATCGATCGGGGTCCT -3'
(R):5'- GCAGAACGAAATATTCTTACTTCTCC -3'
Posted On 2013-04-16