Incidental Mutation 'R6589:Cdh4'
| ID |
524494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, R-cadherin, Rcad |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
179084228-179541166 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 179523789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
|
| AlphaFold |
P39038 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000314
|
| SMART Domains |
Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
30 |
121 |
1.18e-30 |
SMART |
|
CA
|
187 |
272 |
2.31e-15 |
SMART |
|
CA
|
296 |
387 |
4.33e-29 |
SMART |
|
CA
|
410 |
503 |
2.21e-12 |
SMART |
|
CA
|
526 |
610 |
7.16e-21 |
SMART |
|
CA
|
630 |
715 |
3.78e-2 |
SMART |
|
transmembrane domain
|
730 |
752 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
760 |
909 |
2.5e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
| Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
Het |
|
| Other mutations in Cdh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Cdh4
|
APN |
2 |
179,515,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Cdh4
|
APN |
2 |
179,422,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01752:Cdh4
|
APN |
2 |
179,532,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Cdh4
|
APN |
2 |
179,422,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0082:Cdh4
|
UTSW |
2 |
179,535,981 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0357:Cdh4
|
UTSW |
2 |
179,489,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Cdh4
|
UTSW |
2 |
179,439,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Cdh4
|
UTSW |
2 |
179,528,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1622:Cdh4
|
UTSW |
2 |
179,530,885 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1762:Cdh4
|
UTSW |
2 |
179,439,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1794:Cdh4
|
UTSW |
2 |
179,528,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Cdh4
|
UTSW |
2 |
179,532,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Cdh4
|
UTSW |
2 |
179,439,317 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3686:Cdh4
|
UTSW |
2 |
179,422,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3861:Cdh4
|
UTSW |
2 |
179,515,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Cdh4
|
UTSW |
2 |
179,530,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4495:Cdh4
|
UTSW |
2 |
179,422,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4715:Cdh4
|
UTSW |
2 |
179,422,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4893:Cdh4
|
UTSW |
2 |
179,489,212 (GRCm39) |
intron |
probably benign |
|
|
R5029:Cdh4
|
UTSW |
2 |
179,523,742 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5363:Cdh4
|
UTSW |
2 |
179,528,556 (GRCm39) |
missense |
probably benign |
|
|
R5542:Cdh4
|
UTSW |
2 |
179,502,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5773:Cdh4
|
UTSW |
2 |
179,527,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Cdh4
|
UTSW |
2 |
179,537,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Cdh4
|
UTSW |
2 |
179,439,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Cdh4
|
UTSW |
2 |
179,532,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6607:Cdh4
|
UTSW |
2 |
179,515,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Cdh4
|
UTSW |
2 |
179,422,221 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6711:Cdh4
|
UTSW |
2 |
179,532,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Cdh4
|
UTSW |
2 |
179,489,180 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6824:Cdh4
|
UTSW |
2 |
179,439,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Cdh4
|
UTSW |
2 |
179,501,987 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6981:Cdh4
|
UTSW |
2 |
179,439,297 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7285:Cdh4
|
UTSW |
2 |
179,439,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Cdh4
|
UTSW |
2 |
179,532,636 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7541:Cdh4
|
UTSW |
2 |
179,086,603 (GRCm39) |
splice site |
probably null |
|
|
R7560:Cdh4
|
UTSW |
2 |
179,532,695 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8146:Cdh4
|
UTSW |
2 |
179,515,871 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8833:Cdh4
|
UTSW |
2 |
179,535,828 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9075:Cdh4
|
UTSW |
2 |
179,501,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9203:Cdh4
|
UTSW |
2 |
179,422,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Cdh4
|
UTSW |
2 |
179,422,119 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGAGAACCGTATAGAGACAG -3'
(R):5'- CCAGCATGGATATGAAGGCC -3'
Sequencing Primer
(F):5'- GTAGTAGCCAACCTCACGGTGATG -3'
(R):5'- TGGATATGAAGGCCAGAATCTTCCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation