Incidental Mutation 'R7973:Cdh24'
ID 650741
Institutional Source Beutler Lab
Gene Symbol Cdh24
Ensembl Gene ENSMUSG00000059674
Gene Name cadherin-like 24
Synonyms EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik
MMRRC Submission 046016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R7973 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54868688-54878821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54876477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 116 (V116E)
Ref Sequence ENSEMBL: ENSMUSP00000066005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000148754] [ENSMUST00000150371] [ENSMUST00000167015] [ENSMUST00000169818] [ENSMUST00000227124]
AlphaFold Q6PFX6
Predicted Effect probably benign
Transcript: ENSMUST00000022793
SMART Domains Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 72 106 1.29e-8 SMART
coiled coil region 138 175 N/A INTRINSIC
low complexity region 205 220 N/A INTRINSIC
coiled coil region 259 300 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
low complexity region 414 423 N/A INTRINSIC
low complexity region 573 603 N/A INTRINSIC
low complexity region 631 662 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
low complexity region 760 773 N/A INTRINSIC
low complexity region 778 792 N/A INTRINSIC
low complexity region 803 813 N/A INTRINSIC
internal_repeat_1 817 892 1.63e-6 PROSPERO
low complexity region 927 952 N/A INTRINSIC
RRM 1012 1081 8.3e-2 SMART
Pfam:RSB_motif 1139 1246 5.7e-30 PFAM
low complexity region 1275 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022794
SMART Domains Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 169 194 N/A INTRINSIC
RRM 254 323 8.3e-2 SMART
low complexity region 355 405 N/A INTRINSIC
low complexity region 412 450 N/A INTRINSIC
PDB:4A8X|B 451 475 4e-6 PDB
low complexity region 477 512 N/A INTRINSIC
low complexity region 517 571 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000067784
AA Change: V116E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: V116E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 67 148 7.85e-18 SMART
CA 172 257 3.23e-28 SMART
CA 281 369 4.24e-14 SMART
CA 396 477 1.48e-22 SMART
Blast:CA 500 581 3e-31 BLAST
transmembrane domain 602 624 N/A INTRINSIC
Pfam:Cadherin_C 627 775 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111484
SMART Domains Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 72 106 1.29e-8 SMART
coiled coil region 138 172 N/A INTRINSIC
coiled coil region 219 260 N/A INTRINSIC
low complexity region 338 356 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 591 622 N/A INTRINSIC
low complexity region 694 703 N/A INTRINSIC
low complexity region 720 733 N/A INTRINSIC
low complexity region 738 752 N/A INTRINSIC
low complexity region 763 773 N/A INTRINSIC
internal_repeat_1 777 852 1.21e-6 PROSPERO
low complexity region 887 912 N/A INTRINSIC
RRM 972 1041 8.3e-2 SMART
low complexity region 1073 1123 N/A INTRINSIC
low complexity region 1130 1168 N/A INTRINSIC
coiled coil region 1188 1253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126166
SMART Domains Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 30 40 N/A INTRINSIC
low complexity region 154 179 N/A INTRINSIC
RRM 239 308 8.3e-2 SMART
low complexity region 340 390 N/A INTRINSIC
low complexity region 397 435 N/A INTRINSIC
PDB:4A8X|B 436 460 4e-6 PDB
low complexity region 462 497 N/A INTRINSIC
low complexity region 502 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138321
SMART Domains Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
Pfam:RSB_motif 20 128 4.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141453
SMART Domains Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 30 40 N/A INTRINSIC
low complexity region 141 166 N/A INTRINSIC
RRM 226 295 8.3e-2 SMART
low complexity region 327 377 N/A INTRINSIC
low complexity region 384 422 N/A INTRINSIC
PDB:4A8X|B 423 447 4e-6 PDB
low complexity region 449 484 N/A INTRINSIC
low complexity region 489 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147714
SMART Domains Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 18 52 1.29e-8 SMART
coiled coil region 83 120 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
coiled coil region 204 245 N/A INTRINSIC
low complexity region 324 342 N/A INTRINSIC
low complexity region 360 369 N/A INTRINSIC
low complexity region 519 549 N/A INTRINSIC
low complexity region 577 608 N/A INTRINSIC
low complexity region 680 689 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
low complexity region 724 738 N/A INTRINSIC
low complexity region 749 759 N/A INTRINSIC
low complexity region 861 886 N/A INTRINSIC
RRM 946 1015 8.3e-2 SMART
Pfam:RSB_motif 1065 1180 1.1e-29 PFAM
low complexity region 1209 1263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148754
SMART Domains Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 170 195 N/A INTRINSIC
RRM 255 324 8.3e-2 SMART
low complexity region 356 406 N/A INTRINSIC
low complexity region 413 451 N/A INTRINSIC
PDB:4A8X|B 452 476 4e-6 PDB
low complexity region 478 513 N/A INTRINSIC
low complexity region 518 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150371
SMART Domains Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
low complexity region 223 248 N/A INTRINSIC
RRM 308 377 8.3e-2 SMART
low complexity region 409 459 N/A INTRINSIC
low complexity region 466 504 N/A INTRINSIC
PDB:4A8X|B 505 529 3e-6 PDB
low complexity region 531 566 N/A INTRINSIC
low complexity region 571 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167015
SMART Domains Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 170 195 N/A INTRINSIC
RRM 255 324 8.3e-2 SMART
low complexity region 356 406 N/A INTRINSIC
low complexity region 413 451 N/A INTRINSIC
PDB:4A8X|B 452 476 4e-6 PDB
low complexity region 478 513 N/A INTRINSIC
low complexity region 518 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169818
SMART Domains Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

DomainStartEndE-ValueType
low complexity region 1 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227124
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik A G 5: 115,084,112 (GRCm39) D76G probably benign Het
Abcg1 T C 17: 31,323,132 (GRCm39) V237A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Akap11 A T 14: 78,752,506 (GRCm39) H122Q Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Arhgef4 C T 1: 34,763,518 (GRCm39) R925W possibly damaging Het
Arid1a C T 4: 133,480,381 (GRCm39) G181D probably damaging Het
Ash1l T A 3: 88,960,164 (GRCm39) S2299T probably benign Het
Atf7ip C T 6: 136,538,062 (GRCm39) Q432* probably null Het
B430306N03Rik T A 17: 48,623,483 (GRCm39) S10T probably benign Het
Bckdk A G 7: 127,505,539 (GRCm39) I221V probably benign Het
Brinp2 T C 1: 158,074,057 (GRCm39) Y688C probably damaging Het
Caml C T 13: 55,779,784 (GRCm39) L286F probably benign Het
Ccdc125 C T 13: 100,806,331 (GRCm39) probably benign Het
Cenpe T A 3: 134,929,011 (GRCm39) I305N probably damaging Het
Cep41 C T 6: 30,680,130 (GRCm39) G33S probably damaging Het
Clec4b2 A T 6: 123,181,148 (GRCm39) I178L probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dapk1 T A 13: 60,909,377 (GRCm39) L1330Q probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fmnl1 G T 11: 103,061,984 (GRCm39) probably benign Het
Galk1 A G 11: 115,903,435 (GRCm39) F24L possibly damaging Het
Hyal4 T A 6: 24,755,785 (GRCm39) M1K probably null Het
Ighe T C 12: 113,236,677 (GRCm39) T64A Het
Iqch A G 9: 63,432,228 (GRCm39) I389T possibly damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Kdm1b T C 13: 47,230,922 (GRCm39) S650P probably benign Het
Mapkapk5 T G 5: 121,663,776 (GRCm39) N426T possibly damaging Het
Mroh5 G T 15: 73,664,614 (GRCm39) Y90* probably null Het
Ncan T G 8: 70,550,225 (GRCm39) I1184L probably benign Het
Nectin3 T C 16: 46,216,484 (GRCm39) T439A probably benign Het
Neo1 G T 9: 58,897,476 (GRCm39) A160E probably damaging Het
Nosip T C 7: 44,726,784 (GRCm39) S295P possibly damaging Het
Nup205 T A 6: 35,222,274 (GRCm39) F1979L probably benign Het
Nxpe2 A T 9: 48,231,168 (GRCm39) D400E probably damaging Het
Or4a73 T A 2: 89,421,331 (GRCm39) I43F probably damaging Het
Pfkfb4 G A 9: 108,854,179 (GRCm39) R351Q probably damaging Het
Psg29 T C 7: 16,944,462 (GRCm39) I324T probably benign Het
Ptprh G T 7: 4,583,887 (GRCm39) T235N possibly damaging Het
Ralgapa2 T A 2: 146,230,481 (GRCm39) N981I possibly damaging Het
Ralgps1 T C 2: 33,036,651 (GRCm39) Y421C probably damaging Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Sgk1 G T 10: 21,870,054 (GRCm39) S31I probably benign Het
Sim1 T G 10: 50,857,419 (GRCm39) Y390D probably damaging Het
Slain2 T A 5: 73,112,779 (GRCm39) Y271* probably null Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Stab1 A T 14: 30,881,590 (GRCm39) probably null Het
Supv3l1 A T 10: 62,285,202 (GRCm39) L88Q probably damaging Het
Syt2 C A 1: 134,668,570 (GRCm39) probably null Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Usp32 A G 11: 84,913,634 (GRCm39) I899T probably damaging Het
Usp6nl G T 2: 6,413,762 (GRCm39) R96M probably damaging Het
Vmn1r75 A G 7: 11,614,961 (GRCm39) D231G probably benign Het
Vmn2r42 T C 7: 8,197,872 (GRCm39) E249G probably benign Het
Zbtb34 C T 2: 33,301,531 (GRCm39) G337R probably benign Het
Zfp457 T A 13: 67,441,882 (GRCm39) H231L probably benign Het
Zfp715 C T 7: 42,949,321 (GRCm39) G213D possibly damaging Het
Zfp760 T G 17: 21,941,084 (GRCm39) H86Q probably benign Het
Other mutations in Cdh24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Cdh24 APN 14 54,875,889 (GRCm39) missense probably benign 0.01
IGL02597:Cdh24 APN 14 54,870,972 (GRCm39) missense possibly damaging 0.55
R0088:Cdh24 UTSW 14 54,871,171 (GRCm39) missense probably damaging 1.00
R0480:Cdh24 UTSW 14 54,870,054 (GRCm39) missense probably benign 0.38
R0890:Cdh24 UTSW 14 54,870,051 (GRCm39) missense probably benign 0.00
R1525:Cdh24 UTSW 14 54,876,046 (GRCm39) missense probably damaging 1.00
R1591:Cdh24 UTSW 14 54,873,799 (GRCm39) missense probably benign 0.19
R1727:Cdh24 UTSW 14 54,876,095 (GRCm39) nonsense probably null
R3757:Cdh24 UTSW 14 54,869,637 (GRCm39) missense possibly damaging 0.92
R4786:Cdh24 UTSW 14 54,875,007 (GRCm39) missense possibly damaging 0.65
R4921:Cdh24 UTSW 14 54,870,672 (GRCm39) missense probably damaging 1.00
R4929:Cdh24 UTSW 14 54,870,973 (GRCm39) missense probably benign 0.00
R5116:Cdh24 UTSW 14 54,873,870 (GRCm39) missense probably benign 0.34
R5589:Cdh24 UTSW 14 54,874,832 (GRCm39) missense probably damaging 1.00
R5682:Cdh24 UTSW 14 54,874,805 (GRCm39) missense probably damaging 1.00
R5774:Cdh24 UTSW 14 54,876,514 (GRCm39) missense probably damaging 0.99
R6305:Cdh24 UTSW 14 54,869,813 (GRCm39) missense possibly damaging 0.62
R7090:Cdh24 UTSW 14 54,876,964 (GRCm39) missense probably damaging 1.00
R7186:Cdh24 UTSW 14 54,870,949 (GRCm39) missense probably benign 0.03
R7361:Cdh24 UTSW 14 54,876,378 (GRCm39) missense possibly damaging 0.74
R7488:Cdh24 UTSW 14 54,869,637 (GRCm39) missense possibly damaging 0.92
R7623:Cdh24 UTSW 14 54,875,547 (GRCm39) missense probably damaging 1.00
R7823:Cdh24 UTSW 14 54,874,875 (GRCm39) missense probably damaging 1.00
R8017:Cdh24 UTSW 14 54,876,089 (GRCm39) missense probably damaging 1.00
R8019:Cdh24 UTSW 14 54,876,089 (GRCm39) missense probably damaging 1.00
R8029:Cdh24 UTSW 14 54,876,856 (GRCm39) missense probably damaging 1.00
R8070:Cdh24 UTSW 14 54,870,030 (GRCm39) missense probably benign
R8160:Cdh24 UTSW 14 54,875,946 (GRCm39) missense probably damaging 0.99
R8692:Cdh24 UTSW 14 54,875,793 (GRCm39) missense probably benign 0.29
R8862:Cdh24 UTSW 14 54,869,874 (GRCm39) missense probably damaging 1.00
R8915:Cdh24 UTSW 14 54,876,612 (GRCm39) missense probably damaging 1.00
R9161:Cdh24 UTSW 14 54,876,097 (GRCm39) missense probably damaging 1.00
R9212:Cdh24 UTSW 14 54,878,679 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGAACCCCAGGTAAGCTAGG -3'
(R):5'- TCTGCAATGACCTTGGTCCC -3'

Sequencing Primer
(F):5'- CATTGGACATCTCAGGCA -3'
(R):5'- TAGGCTCTAACCCCGTGTG -3'
Posted On 2020-09-15