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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |