Incidental Mutation 'R6997:Cdh19'
ID |
544260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh19
|
Ensembl Gene |
ENSMUSG00000047216 |
Gene Name |
cadherin 19, type 2 |
Synonyms |
|
MMRRC Submission |
045103-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6997 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
110816056-110905314 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to C
at 110882596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094626]
|
AlphaFold |
E9Q3A7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094626
|
SMART Domains |
Protein: ENSMUSP00000092210 Gene: ENSMUSG00000047216
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (58/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,171,539 (GRCm39) |
Y764C |
probably benign |
Het |
Atxn1 |
C |
T |
13: 45,721,095 (GRCm39) |
V267M |
probably benign |
Het |
Cadps |
T |
A |
14: 12,505,793 (GRCm38) |
H759L |
possibly damaging |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Caprin2 |
A |
G |
6: 148,779,474 (GRCm39) |
L111P |
probably damaging |
Het |
Ccl8 |
A |
T |
11: 82,006,865 (GRCm39) |
D26V |
possibly damaging |
Het |
Cnga3 |
C |
A |
1: 37,283,965 (GRCm39) |
H89Q |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,056,190 (GRCm39) |
Q264L |
probably damaging |
Het |
Coil |
A |
G |
11: 88,872,673 (GRCm39) |
T345A |
probably benign |
Het |
Cyp11b2 |
A |
G |
15: 74,723,281 (GRCm39) |
L461P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,414,922 (GRCm39) |
E151G |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,168,743 (GRCm39) |
C357S |
probably null |
Het |
Ebf3 |
A |
C |
7: 136,826,994 (GRCm39) |
I306R |
probably damaging |
Het |
Eprs1 |
A |
G |
1: 185,128,360 (GRCm39) |
H580R |
possibly damaging |
Het |
Ermap |
A |
T |
4: 119,035,810 (GRCm39) |
F393I |
probably damaging |
Het |
Flii |
T |
C |
11: 60,613,151 (GRCm39) |
T217A |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,762,732 (GRCm39) |
Q745* |
probably null |
Het |
Gja8 |
A |
G |
3: 96,826,657 (GRCm39) |
V335A |
probably benign |
Het |
Gm21560 |
A |
T |
14: 6,218,333 (GRCm38) |
N48K |
probably damaging |
Het |
Gpr158 |
C |
T |
2: 21,653,802 (GRCm39) |
T457I |
possibly damaging |
Het |
Kcnv1 |
A |
T |
15: 44,977,997 (GRCm39) |
S14T |
unknown |
Het |
Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,142 (GRCm39) |
T1860A |
unknown |
Het |
Map2k7 |
T |
C |
8: 4,294,035 (GRCm39) |
Y194H |
possibly damaging |
Het |
Map4 |
T |
A |
9: 109,881,982 (GRCm39) |
M282K |
probably benign |
Het |
Mmp10 |
A |
G |
9: 7,503,531 (GRCm39) |
I134V |
probably benign |
Het |
Mrtfa |
G |
T |
15: 80,902,649 (GRCm39) |
S220* |
probably null |
Het |
Msh5 |
A |
T |
17: 35,248,978 (GRCm39) |
L685Q |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,111,463 (GRCm39) |
I1634N |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,217,980 (GRCm39) |
R18* |
probably null |
Het |
Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
Ninl |
G |
T |
2: 150,808,145 (GRCm39) |
H294Q |
probably benign |
Het |
Or4a79 |
G |
A |
2: 89,552,269 (GRCm39) |
A62V |
possibly damaging |
Het |
Or51b17 |
A |
T |
7: 103,542,238 (GRCm39) |
S235T |
probably benign |
Het |
Or8b44 |
T |
C |
9: 38,410,607 (GRCm39) |
I214T |
possibly damaging |
Het |
Orm3 |
T |
A |
4: 63,275,180 (GRCm39) |
L97Q |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,889,281 (GRCm39) |
N432S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,285,822 (GRCm39) |
D1020E |
probably damaging |
Het |
Pxk |
T |
A |
14: 8,122,371 (GRCm38) |
D60E |
probably benign |
Het |
Rack1 |
T |
A |
11: 48,694,752 (GRCm39) |
V198E |
probably damaging |
Het |
Ripk1 |
C |
T |
13: 34,201,100 (GRCm39) |
A271V |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
G |
T |
13: 11,669,266 (GRCm39) |
H3513N |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,534,147 (GRCm39) |
D509E |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Sfxn5 |
A |
G |
6: 85,233,414 (GRCm39) |
V181A |
probably benign |
Het |
Slc5a4b |
C |
T |
10: 75,925,812 (GRCm39) |
A198T |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,848,552 (GRCm39) |
R357H |
possibly damaging |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11b |
G |
A |
15: 54,115,770 (GRCm39) |
L276F |
probably damaging |
Het |
Usp37 |
A |
G |
1: 74,493,118 (GRCm39) |
V723A |
probably benign |
Het |
Usp45 |
G |
T |
4: 21,781,844 (GRCm39) |
R36I |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,838,737 (GRCm39) |
D2269G |
probably damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,485,338 (GRCm39) |
M719L |
possibly damaging |
Het |
Vmn2r52 |
C |
T |
7: 9,902,998 (GRCm39) |
G477R |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,791,716 (GRCm39) |
N546K |
probably benign |
Het |
Wnt8b |
G |
A |
19: 44,500,280 (GRCm39) |
C289Y |
probably damaging |
Het |
Zdbf2 |
T |
G |
1: 63,329,925 (GRCm39) |
M10R |
probably benign |
Het |
Zfp945 |
T |
A |
17: 23,071,543 (GRCm39) |
K140* |
probably null |
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 |
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 |
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'- GTCTCTGAAACTTTAAGGCAAGG -3'
(R):5'- AACAAATGGTGCTTGAGCTG -3'
Sequencing Primer
(F):5'- GCCATAGAAGAGGAATCATCAATATC -3'
(R):5'- GTGCTTGAGCTGAAATTTATTGC -3'
|
Posted On |
2019-05-13 |