Incidental Mutation 'IGL01537:Cdh19'
ID90007
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 #IGL01537
Quality Score
Status
Chromosome1
Chromosomal Location110888326-110977584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110919611 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 423 (T423A)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094626
AA Change: T423A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: T423A

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G 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
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
IGL02275:Cdh19 APN 1 110925886 missense probably benign 0.21
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
Posted On2013-12-03