Incidental Mutation 'R4620:Cdh2'
ID 345287
Institutional Source Beutler Lab
Gene Symbol Cdh2
Ensembl Gene ENSMUSG00000024304
Gene Name cadherin 2
Synonyms N-CAD, N-cadherin, Ncad
MMRRC Submission 042008-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4620 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 16721934-16942303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16781665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
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: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: V142A

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: V85A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: V85A

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 0.0762 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 99% (80/81)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,335 (GRCm39) Y433* probably null Het
Apba2 C T 7: 64,364,215 (GRCm39) R331C probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
B3gnt5 A T 16: 19,588,632 (GRCm39) M284L probably benign Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Blvra T C 2: 126,938,885 (GRCm39) I287T probably damaging Het
Capn5 T C 7: 97,778,578 (GRCm39) Y347C probably damaging Het
Cdcp2 A G 4: 106,963,927 (GRCm39) E259G probably damaging Het
Cdk5rap2 A G 4: 70,184,943 (GRCm39) I1169T probably benign Het
Cenpj A G 14: 56,772,911 (GRCm39) V1043A probably damaging Het
Cfap54 T A 10: 92,805,619 (GRCm39) H1497L probably benign Het
Chat A G 14: 32,175,775 (GRCm39) M95T probably damaging Het
Csmd1 T C 8: 16,052,694 (GRCm39) probably null Het
Csmd3 T C 15: 47,449,149 (GRCm39) E3615G probably benign Het
Cyp2c68 A T 19: 39,701,006 (GRCm39) probably null Het
Dll1 C T 17: 15,590,828 (GRCm39) A332T probably benign Het
Dmrta1 A T 4: 89,577,021 (GRCm39) Q159L probably benign Het
Dnai3 A T 3: 145,748,564 (GRCm39) L850Q probably damaging Het
Eci3 A T 13: 35,132,741 (GRCm39) M212K probably damaging Het
Eml4 T C 17: 83,768,962 (GRCm39) F557L probably benign Het
Fat3 A T 9: 15,908,190 (GRCm39) V2604D probably damaging Het
Frem3 T C 8: 81,395,586 (GRCm39) V1871A possibly damaging Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
H2-M3 C A 17: 37,583,310 (GRCm39) T257K probably damaging Het
Hdgf A G 3: 87,821,883 (GRCm39) N166S possibly damaging Het
Hoxb3 A T 11: 96,236,599 (GRCm39) N226Y probably damaging Het
Itgav T C 2: 83,586,246 (GRCm39) Y169H probably benign Het
Kalrn T G 16: 33,849,075 (GRCm39) I426L probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kif6 T C 17: 50,208,324 (GRCm39) V735A probably benign Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Megf8 G A 7: 25,054,523 (GRCm39) A1880T possibly damaging Het
Miox A T 15: 89,220,324 (GRCm39) Y172F probably benign Het
Myo18a G A 11: 77,708,773 (GRCm39) R48H possibly damaging Het
Ndufb7 T C 8: 84,293,487 (GRCm39) S14P probably damaging Het
Npepps A T 11: 97,129,070 (GRCm39) H371Q probably damaging Het
Or10d5j C T 9: 39,868,205 (GRCm39) V9M probably damaging Het
Or52e15 T A 7: 104,645,830 (GRCm39) I94F probably damaging Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or8b12c A G 9: 37,716,115 (GRCm39) T303A probably benign Het
Orc5 A T 5: 22,734,174 (GRCm39) D203E probably damaging Het
Pappa A G 4: 65,245,265 (GRCm39) T1518A probably benign Het
Pde6a A G 18: 61,395,563 (GRCm39) D602G probably damaging Het
Pnliprp2 G A 19: 58,750,718 (GRCm39) V136I possibly damaging Het
Postn A C 3: 54,284,414 (GRCm39) D627A probably damaging Het
Prpf39 T C 12: 65,089,337 (GRCm39) V25A probably benign Het
Pxdc1 A G 13: 34,836,297 (GRCm39) I41T probably damaging Het
Rab11fip1 T A 8: 27,644,243 (GRCm39) E514V probably damaging Het
Rag1 A T 2: 101,474,025 (GRCm39) H372Q probably damaging Het
Ranbp1 A G 16: 18,057,968 (GRCm39) probably benign Het
Rexo5 A G 7: 119,426,526 (GRCm39) I317V probably benign Het
Rragc A G 4: 123,818,622 (GRCm39) Q279R probably damaging Het
Sbf1 A G 15: 89,191,129 (GRCm39) S187P probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Slfn5 G A 11: 82,852,478 (GRCm39) C868Y probably damaging Het
Sorcs2 C T 5: 36,194,838 (GRCm39) A722T probably benign Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Themis2 A G 4: 132,513,333 (GRCm39) W298R probably damaging Het
Tmem168 T G 6: 13,594,952 (GRCm39) N37T probably benign Het
Tmem62 A G 2: 120,826,845 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trav5-4 G T 14: 53,941,853 (GRCm39) M75I probably benign Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Ubap2 C T 4: 41,233,698 (GRCm39) G64E probably damaging Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Wdfy3 A T 5: 102,054,011 (GRCm39) F1603Y probably damaging Het
Xpo4 A T 14: 57,867,782 (GRCm39) L155Q probably damaging Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zfp780b A T 7: 27,662,178 (GRCm39) Y792* probably null 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
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
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'- GACGACACAGGAAAGGCTTC -3'
(R):5'- AGTGCAACCCAAATACTTCATG -3'

Sequencing Primer
(F):5'- CAGGAAAGGCTTCTTACTACATAGG -3'
(R):5'- ACCCAAATACTTCATGGTACTTTTC -3'
Posted On 2015-09-25