Incidental Mutation 'R4368:Cdh19'
ID 325833
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 041115-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4368 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 110817442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 767 (Q767*)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect probably null
Transcript: ENSMUST00000094626
AA Change: Q767*
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: Q767*

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
Meta Mutation Damage Score 0.9709 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A G 3: 59,754,199 (GRCm39) noncoding transcript Het
Aadacl2fm2 T C 3: 59,659,387 (GRCm39) F280S probably damaging Het
Adamts7 G A 9: 90,077,904 (GRCm39) probably null Het
Adgrv1 A C 13: 81,641,029 (GRCm39) S3335R unknown Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bltp1 C T 3: 37,042,296 (GRCm39) Q2761* probably null Het
Cep120 G A 18: 53,818,957 (GRCm39) probably null Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Efr3a T A 15: 65,738,629 (GRCm39) F753I possibly damaging Het
Hspb7 A T 4: 141,151,329 (GRCm39) E157V probably damaging Het
Irx6 A G 8: 93,405,029 (GRCm39) E299G probably damaging Het
Jhy T A 9: 40,828,440 (GRCm39) N489Y possibly damaging Het
Klhl22 T C 16: 17,607,137 (GRCm39) V481A possibly damaging Het
Mapk13 A G 17: 28,996,539 (GRCm39) probably null Het
Meis1 A T 11: 18,960,656 (GRCm39) probably benign Het
Nlrp14 A G 7: 106,797,012 (GRCm39) K301E probably benign Het
Nol10 T C 12: 17,429,293 (GRCm39) Y340H probably damaging Het
Or2k2 T C 4: 58,785,153 (GRCm39) S190G probably benign Het
Paqr3 T C 5: 97,256,150 (GRCm39) S75G probably damaging Het
Pdgfa T C 5: 138,972,061 (GRCm39) T113A probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Psph T G 5: 129,848,654 (GRCm39) K9T probably benign Het
Ptpn21 T C 12: 98,644,852 (GRCm39) Y1163C probably damaging Het
Scaf8 T C 17: 3,221,470 (GRCm39) L319P unknown Het
Slc4a7 C T 14: 14,733,775 (GRCm38) R62W probably damaging Het
Slc6a3 C A 13: 73,709,031 (GRCm39) C318* probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Taf1c A C 8: 120,326,055 (GRCm39) S602R possibly damaging Het
Tiam2 A G 17: 3,464,958 (GRCm39) D229G probably benign Het
Tor1a A G 2: 30,857,382 (GRCm39) probably benign Het
Trim45 T C 3: 100,830,502 (GRCm39) I92T probably damaging Het
Ttll8 G A 15: 88,798,384 (GRCm39) P784S possibly damaging Het
Tubg1 G T 11: 101,016,190 (GRCm39) probably null Het
Vmn1r178 A T 7: 23,593,447 (GRCm39) N92I probably damaging Het
Vmn2r87 A G 10: 130,315,676 (GRCm39) V130A probably benign Het
Wdr46 A G 17: 34,160,120 (GRCm39) probably benign Het
Yme1l1 A G 2: 23,050,223 (GRCm39) H18R possibly damaging Het
Zfp263 T A 16: 3,562,770 (GRCm39) probably benign Het
Zfp534 T C 4: 147,760,015 (GRCm39) D218G probably benign Het
Zscan12 T C 13: 21,553,553 (GRCm39) V459A 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
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
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'- AACTCTGATTGGCTGCCTC -3'
(R):5'- CCCAGACAGTGCCATATTTCG -3'

Sequencing Primer
(F):5'- CCCAACCTCTGTGTTGAATAAC -3'
(R):5'- AGACCCATGTGCTCCCC -3'
Posted On 2015-07-06