Incidental Mutation 'R0890:Cdh24'
ID |
83482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh24
|
Ensembl Gene |
ENSMUSG00000059674 |
Gene Name |
cadherin-like 24 |
Synonyms |
EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik |
MMRRC Submission |
039053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R0890 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
54868688-54878821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54870051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067784]
[ENSMUST00000097177]
[ENSMUST00000173083]
[ENSMUST00000227124]
|
AlphaFold |
Q6PFX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067784
AA Change: V622A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066005 Gene: ENSMUSG00000059674 AA Change: V622A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
67 |
148 |
7.85e-18 |
SMART |
CA
|
172 |
257 |
3.23e-28 |
SMART |
CA
|
281 |
369 |
4.24e-14 |
SMART |
CA
|
396 |
477 |
1.48e-22 |
SMART |
Blast:CA
|
500 |
581 |
3e-31 |
BLAST |
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
627 |
775 |
2e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097177
|
SMART Domains |
Protein: ENSMUSP00000132140 Gene: ENSMUSG00000072423
Domain | Start | End | E-Value | Type |
Pfam:Proteasome
|
46 |
228 |
3.9e-41 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173083
AA Change: H88R
|
SMART Domains |
Protein: ENSMUSP00000133514 Gene: ENSMUSG00000092443 AA Change: H88R
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227124
AA Change: V240A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
Other mutations in Cdh24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Cdh24
|
APN |
14 |
54,875,889 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02597:Cdh24
|
APN |
14 |
54,870,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0088:Cdh24
|
UTSW |
14 |
54,871,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0480:Cdh24
|
UTSW |
14 |
54,870,054 (GRCm39) |
missense |
probably benign |
0.38 |
R1525:Cdh24
|
UTSW |
14 |
54,876,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R1591:Cdh24
|
UTSW |
14 |
54,873,799 (GRCm39) |
missense |
probably benign |
0.19 |
R1727:Cdh24
|
UTSW |
14 |
54,876,095 (GRCm39) |
nonsense |
probably null |
|
R3757:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4786:Cdh24
|
UTSW |
14 |
54,875,007 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4921:Cdh24
|
UTSW |
14 |
54,870,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R4929:Cdh24
|
UTSW |
14 |
54,870,973 (GRCm39) |
missense |
probably benign |
0.00 |
R5116:Cdh24
|
UTSW |
14 |
54,873,870 (GRCm39) |
missense |
probably benign |
0.34 |
R5589:Cdh24
|
UTSW |
14 |
54,874,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Cdh24
|
UTSW |
14 |
54,874,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R5774:Cdh24
|
UTSW |
14 |
54,876,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R6305:Cdh24
|
UTSW |
14 |
54,869,813 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7090:Cdh24
|
UTSW |
14 |
54,876,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7186:Cdh24
|
UTSW |
14 |
54,870,949 (GRCm39) |
missense |
probably benign |
0.03 |
R7361:Cdh24
|
UTSW |
14 |
54,876,378 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7488:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7623:Cdh24
|
UTSW |
14 |
54,875,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Cdh24
|
UTSW |
14 |
54,874,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7973:Cdh24
|
UTSW |
14 |
54,876,477 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8017:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R8019:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Cdh24
|
UTSW |
14 |
54,876,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Cdh24
|
UTSW |
14 |
54,870,030 (GRCm39) |
missense |
probably benign |
|
R8160:Cdh24
|
UTSW |
14 |
54,875,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R8692:Cdh24
|
UTSW |
14 |
54,875,793 (GRCm39) |
missense |
probably benign |
0.29 |
R8862:Cdh24
|
UTSW |
14 |
54,869,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R8915:Cdh24
|
UTSW |
14 |
54,876,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R9161:Cdh24
|
UTSW |
14 |
54,876,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Cdh24
|
UTSW |
14 |
54,878,679 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCATAGCCGTACACCTGCACCG -3'
(R):5'- CTGGAGGGAAAGCAGTGTCTATTGG -3'
Sequencing Primer
(F):5'- CCTGCACCGAGTCATACG -3'
(R):5'- TTGCAAACTCTGGCCACACT -3'
|
Posted On |
2013-11-08 |