Incidental Mutation 'IGL01411:Cdh4'
ID |
80039 |
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 # |
IGL01411
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
179084228-179541166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 179422196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 107
(R107C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
[ENSMUST00000108911]
|
AlphaFold |
P39038 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000314
AA Change: R107C
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000314 Gene: ENSMUSG00000000305 AA Change: R107C
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 damaging
Transcript: ENSMUST00000108911
AA Change: R107C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104539 Gene: ENSMUSG00000000305 AA Change: R107C
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136411
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,087 (GRCm39) |
D468E |
possibly damaging |
Het |
B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 58,024,919 (GRCm39) |
|
probably benign |
Het |
Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
Mlip |
A |
G |
9: 77,146,699 (GRCm39) |
I198T |
possibly damaging |
Het |
Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,794,103 (GRCm39) |
N164K |
probably damaging |
Het |
Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
Wt1 |
A |
G |
2: 104,963,319 (GRCm39) |
Y16C |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
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 |
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 |
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 |
2013-11-05 |