Incidental Mutation 'R1627:Cdh19'
ID 172535
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 039664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1627 (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 110847375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 411 (M411I)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect probably benign
Transcript: ENSMUST00000094626
AA Change: M411I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: M411I

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,880 (GRCm39) M630T probably benign Het
Anpep T C 7: 79,491,759 (GRCm39) I81V probably benign Het
Bub1 A G 2: 127,650,933 (GRCm39) S627P probably benign Het
C1s1 T A 6: 124,514,439 (GRCm39) N139I probably damaging Het
Car6 A T 4: 150,277,035 (GRCm39) V152D probably damaging Het
Cep95 A G 11: 106,700,531 (GRCm39) E322G probably damaging Het
Chek1 C A 9: 36,625,737 (GRCm39) V303L probably benign Het
Dctn1 T A 6: 83,172,064 (GRCm39) I818N probably damaging Het
Dscaml1 T C 9: 45,664,445 (GRCm39) S2107P probably damaging Het
Dusp14 A G 11: 83,939,597 (GRCm39) I148T probably damaging Het
Eps15 A G 4: 109,227,754 (GRCm39) D645G probably damaging Het
Etl4 A G 2: 20,806,390 (GRCm39) N1153S possibly damaging Het
Fer1l6 A G 15: 58,513,728 (GRCm39) D1541G probably benign Het
Gm14496 A G 2: 181,640,571 (GRCm39) S513G probably damaging Het
H2-D1 G T 17: 35,482,471 (GRCm39) A64S possibly damaging Het
Hsd17b2 T A 8: 118,428,909 (GRCm39) F59I possibly damaging Het
Itgb7 T G 15: 102,131,911 (GRCm39) Q224P probably damaging Het
Jak1 A G 4: 101,048,821 (GRCm39) probably null Het
Kdm1b G A 13: 47,217,707 (GRCm39) probably null Het
Lrp8 A G 4: 107,711,613 (GRCm39) I466V probably damaging Het
Mga A G 2: 119,795,043 (GRCm39) D2909G probably damaging Het
Nol8 T C 13: 49,814,980 (GRCm39) S345P probably benign Het
Nup210l T C 3: 90,051,476 (GRCm39) M540T probably benign Het
Obscn C T 11: 59,003,464 (GRCm39) R1370H probably benign Het
Or2ad1 A G 13: 21,327,125 (GRCm39) F34S probably damaging Het
Pbx3 A G 2: 34,065,965 (GRCm39) V375A probably benign Het
Ppp1r9a T C 6: 4,906,168 (GRCm39) V241A possibly damaging Het
Psmd6 C T 14: 14,112,539 (GRCm38) V354M probably damaging Het
Rab2a T C 4: 8,578,481 (GRCm39) F94L probably damaging Het
Rev1 T C 1: 38,094,571 (GRCm39) D949G probably damaging Het
Ric8a A G 7: 140,438,091 (GRCm39) D110G probably damaging Het
Rlf A T 4: 121,007,197 (GRCm39) D594E probably benign Het
Septin1 C A 7: 126,817,230 (GRCm39) probably null Het
Slco5a1 G C 1: 13,060,607 (GRCm39) P38R probably damaging Het
Snx33 C A 9: 56,833,241 (GRCm39) R276L probably damaging Het
Taf11 A T 17: 28,124,253 (GRCm39) D101E probably benign Het
Ttn A G 2: 76,764,564 (GRCm39) S3168P probably damaging Het
Uggt2 T C 14: 119,295,075 (GRCm39) E41G possibly damaging Het
Vmn2r80 A G 10: 79,030,249 (GRCm39) R692G probably damaging Het
Zfp763 A T 17: 33,240,758 (GRCm39) W24R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AACGCATGTCAGTCTCAGAGTTTCAA -3'
(R):5'- GGTCCCCAGGGTAGTGTTTACCA -3'

Sequencing Primer
(F):5'- TCTGCAACTGGCTAATGAGG -3'
(R):5'- ttacagtataactacagcatttgtcc -3'
Posted On 2014-04-24