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)
|
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*
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 |
|
Meta Mutation Damage Score |
0.9709 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |