Incidental Mutation 'IGL02125:Cdh19'
ID 280812
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 # IGL02125
Quality Score
Status
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110857614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 240 (V240A)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000094626
AA Change: V240A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: V240A

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,324,974 (GRCm39) C493* probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd12 A G 17: 66,277,139 (GRCm39) probably benign Het
Anxa5 G A 3: 36,506,413 (GRCm39) T213I probably damaging Het
Baz2b A G 2: 59,798,984 (GRCm39) L380S probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cacna2d2 C T 9: 107,391,103 (GRCm39) Q411* probably null Het
Cltc A T 11: 86,595,636 (GRCm39) probably benign Het
Dclk3 T A 9: 111,298,175 (GRCm39) V573E probably damaging Het
Dhx29 T C 13: 113,091,834 (GRCm39) probably benign Het
Dip2b T C 15: 100,084,131 (GRCm39) L918P possibly damaging Het
Dzip3 A T 16: 48,747,959 (GRCm39) N1150K probably damaging Het
Fgf5 T C 5: 98,402,391 (GRCm39) S41P possibly damaging Het
Galc A T 12: 98,197,768 (GRCm39) Y120N probably damaging Het
Gldc T C 19: 30,124,641 (GRCm39) N219S probably benign Het
Gm11563 A T 11: 99,549,631 (GRCm39) V41E unknown Het
Gpatch11 T A 17: 79,147,538 (GRCm39) N106K probably benign Het
Gpx3 A G 11: 54,798,068 (GRCm39) N68S probably damaging Het
Ibtk T C 9: 85,617,123 (GRCm39) N150D probably damaging Het
Iglc2 G A 16: 19,017,462 (GRCm39) P48S probably benign Het
Itih5 G A 2: 10,245,798 (GRCm39) R629H probably benign Het
Kank1 T A 19: 25,388,067 (GRCm39) V552E possibly damaging Het
Kmt2a T A 9: 44,759,983 (GRCm39) H655L probably damaging Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Mrtfb A G 16: 13,218,047 (GRCm39) probably null Het
Obscn G T 11: 58,984,152 (GRCm39) Q1768K possibly damaging Het
Obscn A G 11: 58,913,188 (GRCm39) I6943T probably damaging Het
Or51k2 T A 7: 103,596,279 (GRCm39) C169S probably damaging Het
Or5ac25 T C 16: 59,181,879 (GRCm39) N234S probably benign Het
Otud3 A T 4: 138,624,025 (GRCm39) probably null Het
Parp4 A G 14: 56,827,959 (GRCm39) K237E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pttg1ip2 T C 5: 5,500,644 (GRCm39) *151W probably null Het
Rbbp6 T C 7: 122,570,352 (GRCm39) probably null Het
Rdh16 G T 10: 127,647,188 (GRCm39) probably benign Het
Ropn1 A G 16: 34,487,147 (GRCm39) T28A probably benign Het
Sec24d T C 3: 123,152,607 (GRCm39) V873A probably damaging Het
Serpinb3b T A 1: 107,082,474 (GRCm39) L263F probably damaging Het
Shq1 T C 6: 100,607,967 (GRCm39) T315A probably benign Het
Slc13a4 T C 6: 35,255,223 (GRCm39) E355G probably benign Het
Slc26a9 T C 1: 131,687,175 (GRCm39) S445P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc4a10 A T 2: 62,098,515 (GRCm39) M550L probably benign Het
Spata31e5 T C 1: 28,815,419 (GRCm39) N871S possibly damaging Het
Syt17 T C 7: 118,009,197 (GRCm39) D341G probably benign Het
Tmem62 A G 2: 120,826,993 (GRCm39) Y430C probably benign Het
Upp1 A G 11: 9,075,650 (GRCm39) probably benign Het
Vmn1r91 T G 7: 19,835,429 (GRCm39) V116G probably damaging Het
Vmn2r101 A T 17: 19,809,963 (GRCm39) I250F possibly damaging Het
Vmn2r116 T G 17: 23,616,601 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,399,919 (GRCm39) V377I probably benign Het
Zfp592 G T 7: 80,687,932 (GRCm39) A953S probably benign Het
Other mutations in Cdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Cdh19 APN 1 110,876,982 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16