Incidental Mutation 'R9203:Cdh4'
| ID |
698304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, R-cadherin, Rcad |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
T |
C |
2: 128,465,422 (GRCm39) |
H1686R |
possibly damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,298,028 (GRCm39) |
M243T |
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,682,970 (GRCm39) |
S104* |
probably null |
Het |
| Appl2 |
A |
T |
10: 83,476,879 (GRCm39) |
Y48* |
probably null |
Het |
| Cacna1d |
T |
C |
14: 29,773,669 (GRCm39) |
N1694S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,891,179 (GRCm39) |
D1372Y |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,880,990 (GRCm39) |
M358L |
probably benign |
Het |
| Csnka2ip |
T |
A |
16: 64,298,630 (GRCm39) |
D578V |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,563 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,746,113 (GRCm39) |
I4000T |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,622,366 (GRCm39) |
V91A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,885 (GRCm39) |
H335R |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,332,539 (GRCm39) |
R400* |
probably null |
Het |
| Fam114a1 |
C |
A |
5: 65,137,300 (GRCm39) |
P81H |
probably damaging |
Het |
| Gemin6 |
A |
G |
17: 80,535,237 (GRCm39) |
T66A |
probably benign |
Het |
| Grm4 |
T |
C |
17: 27,653,980 (GRCm39) |
I657V |
probably benign |
Het |
| H2ac22 |
T |
C |
13: 21,971,057 (GRCm39) |
N111S |
probably benign |
Het |
| Has3 |
T |
C |
8: 107,600,852 (GRCm39) |
C105R |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,243 (GRCm39) |
E170G |
probably benign |
Het |
| Hoxd3 |
T |
C |
2: 74,576,744 (GRCm39) |
V208A |
probably damaging |
Het |
| Hypk |
C |
T |
2: 121,288,163 (GRCm39) |
Q75* |
probably null |
Het |
| Itpkb |
T |
A |
1: 180,161,004 (GRCm39) |
W377R |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,987 (GRCm39) |
V583E |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 940,981 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Kif7 |
A |
C |
7: 79,354,472 (GRCm39) |
L771R |
probably damaging |
Het |
| Krt9 |
C |
G |
11: 100,079,734 (GRCm39) |
G553R |
unknown |
Het |
| Lama3 |
G |
A |
18: 12,595,869 (GRCm39) |
A933T |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,462,984 (GRCm39) |
I7406T |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntng2 |
G |
T |
2: 29,084,998 (GRCm39) |
C535* |
probably null |
Het |
| Omg |
A |
G |
11: 79,393,051 (GRCm39) |
M269T |
probably benign |
Het |
| Or1x6 |
A |
T |
11: 50,939,161 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,862 (GRCm39) |
*312C |
probably null |
Het |
| Parp2 |
T |
C |
14: 51,056,850 (GRCm39) |
S325P |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,728,528 (GRCm39) |
T2462M |
unknown |
Het |
| Pi4ka |
G |
T |
16: 17,100,165 (GRCm39) |
H1912N |
|
Het |
| Piezo2 |
T |
C |
18: 63,290,302 (GRCm39) |
I152M |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,990 (GRCm39) |
L60Q |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,953,481 (GRCm39) |
K379* |
probably null |
Het |
| Poll |
T |
C |
19: 45,542,091 (GRCm39) |
N405S |
probably benign |
Het |
| Pou6f2 |
T |
A |
13: 18,303,615 (GRCm39) |
I467F |
|
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,382 (GRCm39) |
I324M |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,574,970 (GRCm39) |
I350F |
probably damaging |
Het |
| Slpi |
C |
T |
2: 164,196,817 (GRCm39) |
V126I |
probably benign |
Het |
| Smarca5 |
C |
T |
8: 81,431,258 (GRCm39) |
W986* |
probably null |
Het |
| Sorcs1 |
A |
G |
19: 50,250,733 (GRCm39) |
I366T |
probably damaging |
Het |
| Sv2c |
G |
T |
13: 96,224,745 (GRCm39) |
S188* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 177,996,906 (GRCm39) |
K1099R |
probably damaging |
Het |
| Tdp2 |
C |
A |
13: 25,020,916 (GRCm39) |
Y178* |
probably null |
Het |
| Trabd2b |
A |
G |
4: 114,460,122 (GRCm39) |
E420G |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,294,975 (GRCm39) |
H550Q |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,950 (GRCm39) |
K453R |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,112,657 (GRCm39) |
M1V |
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,902,684 (GRCm39) |
S646L |
probably benign |
Het |
| Zfp219 |
A |
T |
14: 52,246,405 (GRCm39) |
S241T |
probably damaging |
Het |
| Zfp24 |
G |
A |
18: 24,147,326 (GRCm39) |
H329Y |
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 |
|
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 |
|
Z1177:Cdh4
|
UTSW |
2 |
179,422,119 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCAGATGCTGTGCTTGTG -3'
(R):5'- ACCCGCATCTTCCATGAGTC -3'
Sequencing Primer
(F):5'- GTCTGCTGGTCACCCTGAC -3'
(R):5'- TCCATGAGTCAGGGAAAGGCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation