Incidental Mutation 'R8017:Cdh24'
ID |
628835 |
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 |
067457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R8017 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
54868688-54878821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 54876089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 184
(N184K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000067784]
[ENSMUST00000111484]
[ENSMUST00000126166]
[ENSMUST00000141453]
[ENSMUST00000148754]
[ENSMUST00000150371]
[ENSMUST00000167015]
[ENSMUST00000169818]
[ENSMUST00000227124]
|
AlphaFold |
Q6PFX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
|
SMART Domains |
Protein: ENSMUSP00000022793 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
SAP
|
72 |
106 |
1.29e-8 |
SMART |
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
low complexity region
|
205 |
220 |
N/A |
INTRINSIC |
coiled coil region
|
259 |
300 |
N/A |
INTRINSIC |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
low complexity region
|
573 |
603 |
N/A |
INTRINSIC |
low complexity region
|
631 |
662 |
N/A |
INTRINSIC |
low complexity region
|
734 |
743 |
N/A |
INTRINSIC |
low complexity region
|
760 |
773 |
N/A |
INTRINSIC |
low complexity region
|
778 |
792 |
N/A |
INTRINSIC |
low complexity region
|
803 |
813 |
N/A |
INTRINSIC |
internal_repeat_1
|
817 |
892 |
1.63e-6 |
PROSPERO |
low complexity region
|
927 |
952 |
N/A |
INTRINSIC |
RRM
|
1012 |
1081 |
8.3e-2 |
SMART |
Pfam:RSB_motif
|
1139 |
1246 |
5.7e-30 |
PFAM |
low complexity region
|
1275 |
1329 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022794
|
SMART Domains |
Protein: ENSMUSP00000022794 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
low complexity region
|
169 |
194 |
N/A |
INTRINSIC |
RRM
|
254 |
323 |
8.3e-2 |
SMART |
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
low complexity region
|
412 |
450 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
451 |
475 |
4e-6 |
PDB |
low complexity region
|
477 |
512 |
N/A |
INTRINSIC |
low complexity region
|
517 |
571 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067784
AA Change: N184K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066005 Gene: ENSMUSG00000059674 AA Change: N184K
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: ENSMUST00000111484
|
SMART Domains |
Protein: ENSMUSP00000107109 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
SAP
|
72 |
106 |
1.29e-8 |
SMART |
coiled coil region
|
138 |
172 |
N/A |
INTRINSIC |
coiled coil region
|
219 |
260 |
N/A |
INTRINSIC |
low complexity region
|
338 |
356 |
N/A |
INTRINSIC |
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
low complexity region
|
591 |
622 |
N/A |
INTRINSIC |
low complexity region
|
694 |
703 |
N/A |
INTRINSIC |
low complexity region
|
720 |
733 |
N/A |
INTRINSIC |
low complexity region
|
738 |
752 |
N/A |
INTRINSIC |
low complexity region
|
763 |
773 |
N/A |
INTRINSIC |
internal_repeat_1
|
777 |
852 |
1.21e-6 |
PROSPERO |
low complexity region
|
887 |
912 |
N/A |
INTRINSIC |
RRM
|
972 |
1041 |
8.3e-2 |
SMART |
low complexity region
|
1073 |
1123 |
N/A |
INTRINSIC |
low complexity region
|
1130 |
1168 |
N/A |
INTRINSIC |
coiled coil region
|
1188 |
1253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126166
|
SMART Domains |
Protein: ENSMUSP00000114546 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
low complexity region
|
154 |
179 |
N/A |
INTRINSIC |
RRM
|
239 |
308 |
8.3e-2 |
SMART |
low complexity region
|
340 |
390 |
N/A |
INTRINSIC |
low complexity region
|
397 |
435 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
436 |
460 |
4e-6 |
PDB |
low complexity region
|
462 |
497 |
N/A |
INTRINSIC |
low complexity region
|
502 |
556 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138321
|
SMART Domains |
Protein: ENSMUSP00000119326 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
Pfam:RSB_motif
|
20 |
128 |
4.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141453
|
SMART Domains |
Protein: ENSMUSP00000116664 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
166 |
N/A |
INTRINSIC |
RRM
|
226 |
295 |
8.3e-2 |
SMART |
low complexity region
|
327 |
377 |
N/A |
INTRINSIC |
low complexity region
|
384 |
422 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
423 |
447 |
4e-6 |
PDB |
low complexity region
|
449 |
484 |
N/A |
INTRINSIC |
low complexity region
|
489 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147714
|
SMART Domains |
Protein: ENSMUSP00000119080 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
SAP
|
18 |
52 |
1.29e-8 |
SMART |
coiled coil region
|
83 |
120 |
N/A |
INTRINSIC |
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
245 |
N/A |
INTRINSIC |
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
low complexity region
|
360 |
369 |
N/A |
INTRINSIC |
low complexity region
|
519 |
549 |
N/A |
INTRINSIC |
low complexity region
|
577 |
608 |
N/A |
INTRINSIC |
low complexity region
|
680 |
689 |
N/A |
INTRINSIC |
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
low complexity region
|
749 |
759 |
N/A |
INTRINSIC |
low complexity region
|
861 |
886 |
N/A |
INTRINSIC |
RRM
|
946 |
1015 |
8.3e-2 |
SMART |
Pfam:RSB_motif
|
1065 |
1180 |
1.1e-29 |
PFAM |
low complexity region
|
1209 |
1263 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148754
|
SMART Domains |
Protein: ENSMUSP00000122003 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
low complexity region
|
170 |
195 |
N/A |
INTRINSIC |
RRM
|
255 |
324 |
8.3e-2 |
SMART |
low complexity region
|
356 |
406 |
N/A |
INTRINSIC |
low complexity region
|
413 |
451 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
452 |
476 |
4e-6 |
PDB |
low complexity region
|
478 |
513 |
N/A |
INTRINSIC |
low complexity region
|
518 |
572 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150371
|
SMART Domains |
Protein: ENSMUSP00000118069 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
223 |
248 |
N/A |
INTRINSIC |
RRM
|
308 |
377 |
8.3e-2 |
SMART |
low complexity region
|
409 |
459 |
N/A |
INTRINSIC |
low complexity region
|
466 |
504 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
505 |
529 |
3e-6 |
PDB |
low complexity region
|
531 |
566 |
N/A |
INTRINSIC |
low complexity region
|
571 |
625 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167015
|
SMART Domains |
Protein: ENSMUSP00000125776 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
low complexity region
|
170 |
195 |
N/A |
INTRINSIC |
RRM
|
255 |
324 |
8.3e-2 |
SMART |
low complexity region
|
356 |
406 |
N/A |
INTRINSIC |
low complexity region
|
413 |
451 |
N/A |
INTRINSIC |
PDB:4A8X|B
|
452 |
476 |
4e-6 |
PDB |
low complexity region
|
478 |
513 |
N/A |
INTRINSIC |
low complexity region
|
518 |
572 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169818
|
SMART Domains |
Protein: ENSMUSP00000131860 Gene: ENSMUSG00000091306
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227124
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
Oga |
A |
T |
19: 45,762,107 (GRCm39) |
W249R |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,651,925 (GRCm39) |
V406A |
probably benign |
Het |
Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
probably null |
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 |
R0890:Cdh24
|
UTSW |
14 |
54,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TGTGGCCACCCATATCCTTG -3'
(R):5'- GGTTGTCTACCCTGGAATTCATCTC -3'
Sequencing Primer
(F):5'- TTGGCTTGAATCACCACCAAG -3'
(R):5'- GGAATTCATCTCCTTTAACTCAGC -3'
|
Posted On |
2020-06-30 |