Incidental Mutation 'IGL00772:Cdh19'
ID 13348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00772
Quality Score
Status
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110876982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect probably damaging
Transcript: ENSMUST00000094626
AA Change: D119G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: D119G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CA 64 144 2.44e-14 SMART
CA 168 252 3.21e-23 SMART
CA 276 367 6.2e-7 SMART
CA 390 466 2.69e-16 SMART
CA 489 576 6.68e-3 SMART
transmembrane domain 594 616 N/A INTRINSIC
Pfam:Cadherin_C 619 764 1.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187555
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,209,055 (GRCm39) C1501* probably null Het
Ap3b2 T C 7: 81,121,697 (GRCm39) E513G probably damaging Het
Clasp2 A G 9: 113,735,060 (GRCm39) probably benign Het
Cobl A G 11: 12,216,985 (GRCm39) M419T probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ctu2 T C 8: 123,203,977 (GRCm39) probably benign Het
Dnah2 A C 11: 69,342,083 (GRCm39) Y2968D probably damaging Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Folh1 A G 7: 86,380,992 (GRCm39) S494P probably damaging Het
Fras1 T A 5: 96,783,971 (GRCm39) I825N probably benign Het
Grk1 A G 8: 13,455,349 (GRCm39) T78A probably benign Het
Lipi A T 16: 75,347,254 (GRCm39) probably benign Het
Mak A T 13: 41,209,296 (GRCm39) probably benign Het
Prkd1 T C 12: 50,430,199 (GRCm39) E636G probably damaging Het
Psmd1 T C 1: 86,017,920 (GRCm39) probably benign Het
Scara5 G A 14: 65,908,011 (GRCm39) probably benign Het
Skint8 A G 4: 111,796,120 (GRCm39) I265V probably benign Het
Slc48a1 A G 15: 97,687,835 (GRCm39) Y63C probably damaging Het
Slc4a2 G T 5: 24,640,194 (GRCm39) V598L probably damaging Het
Smo A T 6: 29,758,893 (GRCm39) K565* probably null Het
Spink5 A G 18: 44,139,487 (GRCm39) I617V probably benign Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tro A G X: 149,438,321 (GRCm39) V112A probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Other mutations in Cdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Cdh19 APN 1 110,876,874 (GRCm39) missense probably damaging 1.00
IGL01537:Cdh19 APN 1 110,847,341 (GRCm39) missense possibly damaging 0.73
IGL02108:Cdh19 APN 1 110,817,461 (GRCm39) missense probably benign 0.31
IGL02125:Cdh19 APN 1 110,857,614 (GRCm39) missense possibly damaging 0.94
IGL02234:Cdh19 APN 1 110,859,956 (GRCm39) missense probably damaging 1.00
IGL02251:Cdh19 APN 1 110,882,382 (GRCm39) missense probably benign 0.00
IGL02275:Cdh19 APN 1 110,853,616 (GRCm39) missense probably benign 0.21
IGL03203:Cdh19 APN 1 110,817,828 (GRCm39) missense possibly damaging 0.82
R0539:Cdh19 UTSW 1 110,852,892 (GRCm39) missense possibly damaging 0.81
R0594:Cdh19 UTSW 1 110,853,597 (GRCm39) missense probably benign 0.40
R0612:Cdh19 UTSW 1 110,820,900 (GRCm39) splice site probably benign
R1028:Cdh19 UTSW 1 110,882,314 (GRCm39) missense probably benign 0.03
R1627:Cdh19 UTSW 1 110,847,375 (GRCm39) missense probably benign 0.16
R1728:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1729:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1730:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1739:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1762:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1783:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1785:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1974:Cdh19 UTSW 1 110,817,889 (GRCm39) missense possibly damaging 0.50
R2119:Cdh19 UTSW 1 110,847,320 (GRCm39) missense probably benign 0.00
R3026:Cdh19 UTSW 1 110,882,418 (GRCm39) missense probably benign 0.03
R3037:Cdh19 UTSW 1 110,882,337 (GRCm39) missense probably damaging 1.00
R3612:Cdh19 UTSW 1 110,821,026 (GRCm39) missense probably damaging 1.00
R4254:Cdh19 UTSW 1 110,852,760 (GRCm39) missense probably damaging 1.00
R4368:Cdh19 UTSW 1 110,817,442 (GRCm39) nonsense probably null
R4624:Cdh19 UTSW 1 110,859,981 (GRCm39) missense probably benign 0.25
R4648:Cdh19 UTSW 1 110,852,907 (GRCm39) missense probably benign 0.04
R4720:Cdh19 UTSW 1 110,823,111 (GRCm39) critical splice donor site probably null
R4766:Cdh19 UTSW 1 110,820,990 (GRCm39) missense probably benign 0.39
R4937:Cdh19 UTSW 1 110,817,694 (GRCm39) missense probably damaging 1.00
R4968:Cdh19 UTSW 1 110,852,958 (GRCm39) missense probably benign 0.08
R4970:Cdh19 UTSW 1 110,882,354 (GRCm39) missense possibly damaging 0.68
R5095:Cdh19 UTSW 1 110,882,391 (GRCm39) missense probably benign
R5112:Cdh19 UTSW 1 110,882,354 (GRCm39) missense possibly damaging 0.68
R5586:Cdh19 UTSW 1 110,857,587 (GRCm39) missense probably damaging 1.00
R6431:Cdh19 UTSW 1 110,852,787 (GRCm39) missense probably benign 0.00
R6595:Cdh19 UTSW 1 110,853,517 (GRCm39) missense probably benign 0.15
R6997:Cdh19 UTSW 1 110,882,596 (GRCm39) start gained probably benign
R7240:Cdh19 UTSW 1 110,821,137 (GRCm39) missense probably benign
R8252:Cdh19 UTSW 1 110,817,615 (GRCm39) missense probably benign 0.00
R8299:Cdh19 UTSW 1 110,847,278 (GRCm39) missense probably benign 0.01
R8416:Cdh19 UTSW 1 110,853,610 (GRCm39) missense probably benign 0.13
R8766:Cdh19 UTSW 1 110,817,844 (GRCm39) missense probably benign 0.33
R9090:Cdh19 UTSW 1 110,876,947 (GRCm39) missense probably damaging 1.00
R9177:Cdh19 UTSW 1 110,877,111 (GRCm39) missense probably damaging 1.00
R9266:Cdh19 UTSW 1 110,817,771 (GRCm39) missense probably damaging 1.00
R9268:Cdh19 UTSW 1 110,877,111 (GRCm39) missense probably damaging 1.00
R9271:Cdh19 UTSW 1 110,876,947 (GRCm39) missense probably damaging 1.00
R9533:Cdh19 UTSW 1 110,817,589 (GRCm39) missense probably damaging 1.00
R9560:Cdh19 UTSW 1 110,821,004 (GRCm39) missense possibly damaging 0.61
R9765:Cdh19 UTSW 1 110,823,111 (GRCm39) critical splice donor site probably null
Z1176:Cdh19 UTSW 1 110,859,944 (GRCm39) missense probably damaging 0.99
Z1176:Cdh19 UTSW 1 110,823,117 (GRCm39) missense probably damaging 1.00
Z1176:Cdh19 UTSW 1 110,821,036 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06