Incidental Mutation 'R1469:Cdh2'
ID 500293
Institutional Source Beutler Lab
Gene Symbol Cdh2
Ensembl Gene ENSMUSG00000024304
Gene Name cadherin 2
Synonyms N-CAD, N-cadherin, Ncad
MMRRC Submission 039522-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1469 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 16721934-16942303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16757324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 641 (V641A)
Ref Sequence ENSEMBL: ENSMUSP00000111516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025166] [ENSMUST00000115850]
AlphaFold P15116
Predicted Effect possibly damaging
Transcript: ENSMUST00000025166
AA Change: V698A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: V698A

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 possibly damaging
Transcript: ENSMUST00000115850
AA Change: V641A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: V641A

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 0.3614 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 95.3%
  • 10x: 69.3%
  • 20x: 30.3%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,039,526 (GRCm39) V261E probably damaging Het
Abca15 A G 7: 119,981,720 (GRCm39) E1058G probably benign Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Actn4 A G 7: 28,604,753 (GRCm39) V348A probably benign Het
Agtr1b A T 3: 20,369,664 (GRCm39) L314H probably damaging Het
Ankrd55 T C 13: 112,504,460 (GRCm39) M402T probably benign Het
Asap2 A G 12: 21,263,180 (GRCm39) Q265R probably benign Het
Atp2b4 G A 1: 133,634,677 (GRCm39) R1124C probably damaging Het
Atp2c1 A T 9: 105,312,351 (GRCm39) C353* probably null Het
Atp8b5 T A 4: 43,291,733 (GRCm39) probably null Het
Baz1b T A 5: 135,246,833 (GRCm39) Y761N probably damaging Het
Bend6 A G 1: 33,903,824 (GRCm39) V38A probably benign Het
Camk1g T C 1: 193,044,399 (GRCm39) E5G possibly damaging Het
Ccdc14 T A 16: 34,527,152 (GRCm39) H352Q probably damaging Het
Celsr2 C A 3: 108,321,424 (GRCm39) D463Y probably damaging Het
Cfap43 A G 19: 47,885,314 (GRCm39) Y434H probably damaging Het
Cnih2 T C 19: 5,143,730 (GRCm39) Y142C probably damaging Het
Coa5 T A 1: 37,459,681 (GRCm39) R71* probably null Het
Csmd3 A T 15: 47,532,598 (GRCm39) Y2532* probably null Het
Cytl1 A T 5: 37,892,991 (GRCm39) M34L probably benign Het
Dctn1 T A 6: 83,169,871 (GRCm39) I590N probably damaging Het
Dhx57 T C 17: 80,561,847 (GRCm39) H889R probably damaging Het
Dock10 A G 1: 80,490,275 (GRCm39) I1948T probably benign Het
Dock3 A T 9: 106,832,908 (GRCm39) N1034K probably benign Het
Dzip1l G A 9: 99,541,829 (GRCm39) probably null Het
Eif4g1 T A 16: 20,498,758 (GRCm39) V439E possibly damaging Het
Eml5 T C 12: 98,825,082 (GRCm39) I712V probably benign Het
Entrep1 G A 19: 23,950,970 (GRCm39) T537I probably benign Het
Epha3 C T 16: 63,473,857 (GRCm39) G300D probably damaging Het
Erbb4 A C 1: 68,599,841 (GRCm39) S79A probably damaging Het
Gclc T C 9: 77,688,419 (GRCm39) V205A probably benign Het
Gdpd4 A G 7: 97,623,673 (GRCm39) probably null Het
Gm11564 C T 11: 99,706,058 (GRCm39) C124Y unknown Het
Gm16494 T C 17: 47,327,770 (GRCm39) E38G probably damaging Het
Gtf2h1 T C 7: 46,454,549 (GRCm39) probably null Het
Gtsf2 G T 15: 103,349,644 (GRCm39) R68S probably benign Het
Heatr5b T C 17: 79,115,813 (GRCm39) Q881R probably damaging Het
Hmox1 C A 8: 75,825,463 (GRCm39) L236I probably benign Het
Ighv8-12 T C 12: 115,611,963 (GRCm39) I7V probably benign Het
Izumo1 T C 7: 45,272,437 (GRCm39) S73P probably damaging Het
Kifbp A T 10: 62,395,229 (GRCm39) F471Y probably damaging Het
Knl1 A G 2: 118,901,827 (GRCm39) N1176S possibly damaging Het
Mecom A T 3: 30,034,197 (GRCm39) L493Q probably damaging Het
Mprip T C 11: 59,650,016 (GRCm39) V1240A probably damaging Het
Mrpl3 T C 9: 104,954,201 (GRCm39) S302P probably damaging Het
Mycbp2 T C 14: 103,425,956 (GRCm39) T2390A probably damaging Het
Myo1c T C 11: 75,560,787 (GRCm39) S766P probably damaging Het
Myo9b A G 8: 71,743,680 (GRCm39) Q247R probably damaging Het
Nav3 G A 10: 109,596,369 (GRCm39) T1423I probably damaging Het
Nefh A T 11: 4,890,066 (GRCm39) I851N probably benign Het
Nup98 T C 7: 101,788,008 (GRCm39) T1004A probably benign Het
Or1e17 T C 11: 73,831,383 (GRCm39) F104L probably benign Het
Or1e22 G A 11: 73,377,149 (GRCm39) S167L possibly damaging Het
Or5k8 G A 16: 58,644,973 (GRCm39) T33I probably benign Het
Or5p76 T C 7: 108,122,411 (GRCm39) T249A probably benign Het
Osgin1 G T 8: 120,172,124 (GRCm39) R306L possibly damaging Het
Otof A G 5: 30,537,571 (GRCm39) L1246P probably benign Het
Pde8a T A 7: 80,952,019 (GRCm39) N273K probably damaging Het
Phf14 T A 6: 11,933,726 (GRCm39) M196K possibly damaging Het
Pkd1l3 T C 8: 110,373,585 (GRCm39) S1374P possibly damaging Het
Pkhd1l1 T C 15: 44,400,282 (GRCm39) V2142A probably benign Het
Plb1 A G 5: 32,512,170 (GRCm39) E1318G possibly damaging Het
Plekhh2 A G 17: 84,883,199 (GRCm39) I756V probably benign Het
Primpol A G 8: 47,046,672 (GRCm39) V208A probably benign Het
Ptch2 C A 4: 116,965,662 (GRCm39) A389E probably benign Het
Pzp A G 6: 128,489,319 (GRCm39) Y431H probably benign Het
Rnf43 G A 11: 87,622,233 (GRCm39) G445R probably damaging Het
Scn5a A T 9: 119,362,727 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Shisa9 T A 16: 11,802,935 (GRCm39) M164K probably damaging Het
Skint1 A G 4: 111,882,708 (GRCm39) I251V probably benign Het
Slc16a14 C T 1: 84,907,182 (GRCm39) D31N probably damaging Het
Slc22a13 T C 9: 119,022,361 (GRCm39) S548G possibly damaging Het
Slc4a9 T C 18: 36,664,154 (GRCm39) F316L probably benign Het
Smchd1 C T 17: 71,656,725 (GRCm39) R1914H probably damaging Het
Snx16 C T 3: 10,499,431 (GRCm39) D200N probably damaging Het
Spock3 A G 8: 63,404,934 (GRCm39) D34G probably damaging Het
Sspo T C 6: 48,467,916 (GRCm39) C4154R probably damaging Het
Sytl3 C T 17: 6,954,723 (GRCm39) A131V probably benign Het
Tacc1 T A 8: 25,672,271 (GRCm39) D319V probably benign Het
Tead1 A T 7: 112,475,391 (GRCm39) K234I probably damaging Het
Tgfbrap1 C T 1: 43,114,618 (GRCm39) V161I probably benign Het
Tnfaip3 A G 10: 18,884,017 (GRCm39) V121A probably damaging Het
Tnnt2 A G 1: 135,779,793 (GRCm39) T297A possibly damaging Het
Trappc11 G A 8: 47,957,000 (GRCm39) L809F probably damaging Het
Ttn T C 2: 76,601,869 (GRCm39) I18598V probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Unc5a A G 13: 55,144,232 (GRCm39) N186D probably damaging Het
Uqcrfs1 C A 13: 30,724,784 (GRCm39) G252V probably damaging Het
Vmn2r115 T C 17: 23,564,992 (GRCm39) I293T probably damaging Het
Vmn2r9 T C 5: 108,991,694 (GRCm39) T556A probably benign Het
Ythdc2 T A 18: 44,997,529 (GRCm39) Y1029N probably benign Het
Zfp451 T A 1: 33,808,894 (GRCm39) K989M possibly damaging Het
Zfpm1 C T 8: 123,062,585 (GRCm39) T548M probably 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
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
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
Posted On 2017-12-01