Incidental Mutation 'IGL01752:Cdh4'
| ID |
153393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, R-cadherin, Rcad |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
179084228-179541166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 179532677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 713
(N713I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
[ENSMUST00000098996]
|
| AlphaFold |
P39038 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000314
AA Change: N713I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: N713I
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129659
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
| Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
probably benign |
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 |
|
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 |
|
R6589:Cdh4
|
UTSW |
2 |
179,523,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation