Incidental Mutation 'R9075:Cdh4'
| ID |
689718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, R-cadherin, Rcad |
| MMRRC Submission |
068896-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
179084228-179541166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179501940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 300
(D300G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
|
| AlphaFold |
P39038 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000314
AA Change: D300G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: D300G
| 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 |
0.9433 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
G |
1: 120,097,014 (GRCm39) |
S137A |
|
Het |
| Actl6a |
G |
T |
3: 32,769,641 (GRCm39) |
C152F |
possibly damaging |
Het |
| Adam26b |
A |
T |
8: 43,973,405 (GRCm39) |
D532E |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,598,793 (GRCm39) |
N878S |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,975,597 (GRCm39) |
S387P |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,153,541 (GRCm39) |
S2350P |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,979,993 (GRCm39) |
Y969C |
probably damaging |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,484,582 (GRCm39) |
V224D |
probably damaging |
Het |
| Fam210a |
C |
T |
18: 68,405,693 (GRCm39) |
V177M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,447,646 (GRCm39) |
I1150F |
probably damaging |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Gm11555 |
C |
T |
11: 99,540,694 (GRCm39) |
C95Y |
|
Het |
| Gns |
A |
G |
10: 121,226,542 (GRCm39) |
N397S |
probably benign |
Het |
| Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
A |
1: 173,589,282 (GRCm39) |
N50Y |
possibly damaging |
Het |
| Iqub |
T |
A |
6: 24,446,124 (GRCm39) |
I767F |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,857,588 (GRCm39) |
L3087Q |
probably damaging |
Het |
| Mars2 |
A |
G |
1: 55,278,154 (GRCm39) |
T586A |
probably damaging |
Het |
| Mrps28 |
G |
T |
3: 8,867,312 (GRCm39) |
S185R |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,591,905 (GRCm39) |
Y363H |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,304,526 (GRCm39) |
T232A |
possibly damaging |
Het |
| Pate3 |
A |
G |
9: 35,557,893 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
G |
A |
3: 49,699,339 (GRCm39) |
A1041V |
probably benign |
Het |
| Plpp5 |
T |
A |
8: 26,210,379 (GRCm39) |
Y50N |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,570,290 (GRCm39) |
G755* |
probably null |
Het |
| Psmd14 |
T |
A |
2: 61,607,021 (GRCm39) |
V156D |
probably damaging |
Het |
| Ptch1 |
G |
A |
13: 63,681,335 (GRCm39) |
R651C |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,589,403 (GRCm39) |
E265G |
probably damaging |
Het |
| Rbmx |
G |
A |
X: 56,432,717 (GRCm39) |
P301L |
probably benign |
Het |
| Rimbp2 |
T |
A |
5: 128,851,312 (GRCm39) |
D878V |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,374,023 (GRCm39) |
K668R |
probably benign |
Het |
| Slc10a2 |
C |
A |
8: 5,155,267 (GRCm39) |
|
probably benign |
Het |
| Slc15a3 |
T |
C |
19: 10,826,094 (GRCm39) |
S262P |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,930,860 (GRCm39) |
Y646H |
probably damaging |
Het |
| Smpd4 |
C |
T |
16: 17,457,849 (GRCm39) |
P406S |
unknown |
Het |
| Sv2b |
A |
G |
7: 74,789,845 (GRCm39) |
V396A |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,246,245 (GRCm39) |
|
probably benign |
Het |
| Sympk |
A |
G |
7: 18,776,563 (GRCm39) |
E485G |
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,982,501 (GRCm39) |
V762A |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,341,356 (GRCm39) |
G275V |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,754,259 (GRCm39) |
Y998C |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,040,130 (GRCm39) |
V607E |
possibly damaging |
Het |
| Trim69 |
A |
T |
2: 122,009,264 (GRCm39) |
R441S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,774,022 (GRCm39) |
S1814* |
probably null |
Het |
| Vmn1r192 |
C |
T |
13: 22,371,333 (GRCm39) |
V296I |
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,600 (GRCm39) |
S65G |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,141,250 (GRCm39) |
V738A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,065 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zfp583 |
A |
T |
7: 6,319,870 (GRCm39) |
C381S |
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 |
|
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'- AAAACTCCCTCAGGTGCAG -3'
(R):5'- CTGGATCCCTAACCATGTGTCC -3'
Sequencing Primer
(F):5'- TCAGGTGCAGGCTGAGG -3'
(R):5'- GTCCCTTTGGATCACAGAGCTAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation