Incidental Mutation 'R3037:Cdh19'
ID 264830
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 040553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3037 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110882337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 52 (V52F)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect probably damaging
Transcript: ENSMUST00000094626
AA Change: V52F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: V52F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194910
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T C 13: 94,582,486 (GRCm39) probably null Het
Bco1 A G 8: 117,854,278 (GRCm39) Y401C probably benign Het
Bod1l A T 5: 41,979,380 (GRCm39) S645T probably damaging Het
Cat A G 2: 103,298,122 (GRCm39) Y274H probably benign Het
Cntnap2 G A 6: 45,992,200 (GRCm39) V376I possibly damaging Het
Dll3 A G 7: 27,998,542 (GRCm39) L141P probably damaging Het
Ets2 C A 16: 95,517,109 (GRCm39) N280K probably benign Het
Fam186a G T 15: 99,841,675 (GRCm39) P1523Q probably damaging Het
Fcgbp A G 7: 27,802,127 (GRCm39) I1352V possibly damaging Het
Fcsk A T 8: 111,621,350 (GRCm39) probably null Het
Gng11 A G 6: 4,008,051 (GRCm39) E38G probably benign Het
Gsdmc2 A T 15: 63,705,180 (GRCm39) F178I probably benign Het
Il11ra1 T A 4: 41,765,074 (GRCm39) S133R possibly damaging Het
Kcnab2 T A 4: 152,478,213 (GRCm39) I349F possibly damaging Het
Kctd10 A G 5: 114,513,061 (GRCm39) V38A probably damaging Het
Lrig3 A G 10: 125,845,901 (GRCm39) R777G probably damaging Het
Naip2 A C 13: 100,291,457 (GRCm39) D1160E probably benign Het
Nanog C A 6: 122,690,227 (GRCm39) Q186K possibly damaging Het
Nlrc3 T C 16: 3,770,272 (GRCm39) N249S probably damaging Het
Nup214 A T 2: 31,866,632 (GRCm39) T56S probably benign Het
Or8k41 A T 2: 86,313,987 (GRCm39) I33N probably damaging Het
Pcdhb1 T G 18: 37,398,166 (GRCm39) M39R probably damaging Het
Pced1a A C 2: 130,261,779 (GRCm39) D291E probably benign Het
Pdia6 C T 12: 17,329,646 (GRCm39) R261W probably damaging Het
Pdlim4 C A 11: 53,947,083 (GRCm39) G72V probably benign Het
Plce1 G A 19: 38,766,328 (GRCm39) D2104N probably damaging Het
Ptprk T C 10: 28,456,474 (GRCm39) L7P probably damaging Het
Rad21l A T 2: 151,502,700 (GRCm39) F170Y probably damaging Het
Scaf1 T C 7: 44,656,771 (GRCm39) probably benign Het
Topors C T 4: 40,269,673 (GRCm39) probably null Het
Trpm5 G A 7: 142,639,200 (GRCm39) T239I probably benign Het
Tspan5 G A 3: 138,604,116 (GRCm39) G167D probably damaging Het
Ttyh3 C A 5: 140,634,597 (GRCm39) probably benign Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Vmn2r77 A T 7: 86,450,191 (GRCm39) I146L probably benign Het
Ythdf3 T C 3: 16,259,355 (GRCm39) F501L probably benign Het
Zc3h4 A G 7: 16,155,410 (GRCm39) D241G unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- GACTGCTTTGGTCCATTGTAAC -3'
(R):5'- CACATTTGGCTTGGATCAGTTC -3'

Sequencing Primer
(F):5'- GCTTTGGTCCATTGTAACAAATAAC -3'
(R):5'- CTGTTCCTTTCTAGAATAAGAGCTGG -3'
Posted On 2015-02-05