Incidental Mutation 'IGL02275:Cdh19'
ID287313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Namecadherin 19, type 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02275
Quality Score
Status
Chromosome1
Chromosomal Location110888326-110977584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110925886 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 275 (K275I)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
Predicted Effect probably benign
Transcript: ENSMUST00000094626
AA Change: K275I

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: K275I

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,906,282 D130V probably damaging Het
4930596D02Rik T C 14: 35,811,923 T9A probably benign Het
Anapc1 C A 2: 128,659,852 A757S probably benign Het
Bpifa6 A T 2: 153,992,272 D328V probably benign Het
Casc1 T C 6: 145,177,364 Y592C probably damaging Het
Col18a1 A G 10: 77,059,383 I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 V222D probably damaging Het
Crim1 T A 17: 78,369,998 M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 H232N probably damaging Het
Dhx57 T C 17: 80,274,839 T393A probably benign Het
Gabrb2 G T 11: 42,591,894 R193L probably benign Het
Gm5828 T A 1: 16,769,118 noncoding transcript Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Hsp90ab1 T C 17: 45,568,438 Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 I136T probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1361 A C 13: 21,659,000 F108V probably benign Het
Sel1l T C 12: 91,815,015 Y532C probably damaging Het
Sirpb1a A G 3: 15,410,409 probably null Het
Ush2a C T 1: 188,263,269 T79M possibly damaging Het
Usp24 T C 4: 106,387,493 V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 T382A probably benign Het
Vps53 T C 11: 76,047,123 Y728C probably benign Het
Other mutations in Cdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Cdh19 APN 1 110949252 missense probably damaging 1.00
IGL00863:Cdh19 APN 1 110949144 missense probably damaging 1.00
IGL01537:Cdh19 APN 1 110919611 missense possibly damaging 0.73
IGL02108:Cdh19 APN 1 110889731 missense probably benign 0.31
IGL02125:Cdh19 APN 1 110929884 missense possibly damaging 0.94
IGL02234:Cdh19 APN 1 110932226 missense probably damaging 1.00
IGL02251:Cdh19 APN 1 110954652 missense probably benign 0.00
IGL03203:Cdh19 APN 1 110890098 missense possibly damaging 0.82
R0539:Cdh19 UTSW 1 110925162 missense possibly damaging 0.81
R0594:Cdh19 UTSW 1 110925867 missense probably benign 0.40
R0612:Cdh19 UTSW 1 110893170 splice site probably benign
R1028:Cdh19 UTSW 1 110954584 missense probably benign 0.03
R1627:Cdh19 UTSW 1 110919645 missense probably benign 0.16
R1728:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1729:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1730:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1739:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1762:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1783:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1785:Cdh19 UTSW 1 110893384 missense probably damaging 0.98
R1974:Cdh19 UTSW 1 110890159 missense possibly damaging 0.50
R2119:Cdh19 UTSW 1 110919590 missense probably benign 0.00
R3026:Cdh19 UTSW 1 110954688 missense probably benign 0.03
R3037:Cdh19 UTSW 1 110954607 missense probably damaging 1.00
R3612:Cdh19 UTSW 1 110893296 missense probably damaging 1.00
R4254:Cdh19 UTSW 1 110925030 missense probably damaging 1.00
R4368:Cdh19 UTSW 1 110889712 nonsense probably null
R4624:Cdh19 UTSW 1 110932251 missense probably benign 0.25
R4648:Cdh19 UTSW 1 110925177 missense probably benign 0.04
R4720:Cdh19 UTSW 1 110895381 critical splice donor site probably null
R4766:Cdh19 UTSW 1 110893260 missense probably benign 0.39
R4937:Cdh19 UTSW 1 110889964 missense probably damaging 1.00
R4968:Cdh19 UTSW 1 110925228 missense probably benign 0.08
R4970:Cdh19 UTSW 1 110954624 missense possibly damaging 0.68
R5095:Cdh19 UTSW 1 110954661 missense probably benign
R5112:Cdh19 UTSW 1 110954624 missense possibly damaging 0.68
R5586:Cdh19 UTSW 1 110929857 missense probably damaging 1.00
R6431:Cdh19 UTSW 1 110925057 missense probably benign 0.00
R6595:Cdh19 UTSW 1 110925787 missense probably benign 0.15
R6997:Cdh19 UTSW 1 110954866 start gained probably benign
R7240:Cdh19 UTSW 1 110893407 missense probably benign
R8252:Cdh19 UTSW 1 110889885 missense probably benign 0.00
R8299:Cdh19 UTSW 1 110919548 missense probably benign 0.01
Z1176:Cdh19 UTSW 1 110893306 missense probably benign 0.00
Z1176:Cdh19 UTSW 1 110895387 missense probably damaging 1.00
Z1176:Cdh19 UTSW 1 110932214 missense probably damaging 0.99
Posted On2015-04-16