Incidental Mutation 'R7285:Cdh4'
| ID |
565921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, Rcad, R-cadherin |
| MMRRC Submission |
045393-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
179442431-179899373 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 179797465 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 135
(Q135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
[ENSMUST00000108911]
|
| AlphaFold |
P39038 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000314
AA Change: Q135L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: Q135L
| 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: ENSMUST00000108911
AA Change: Q135L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104539
Gene: ENSMUSG00000000305
AA Change: Q135L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016F16Rik |
T |
C |
13: 58,384,385 |
Y119C |
probably damaging |
Het |
| Abca12 |
A |
T |
1: 71,349,155 |
C185* |
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,357,047 |
A1207T |
probably benign |
Het |
| Adam1b |
T |
G |
5: 121,500,993 |
D663A |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,920 |
L148Q |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,837,758 |
I437V |
probably benign |
Het |
| Cldn15 |
A |
T |
5: 136,972,473 |
H124L |
probably benign |
Het |
| Cyp4a30b |
T |
C |
4: 115,456,651 |
M143T |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,845,080 |
C353* |
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,571,519 |
|
probably null |
Het |
| Dock1 |
T |
G |
7: 134,745,008 |
L223R |
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,913,763 |
|
probably null |
Het |
| Efcab5 |
A |
G |
11: 77,138,215 |
F97L |
possibly damaging |
Het |
| Efcab5 |
A |
G |
11: 77,137,344 |
V387A |
probably benign |
Het |
| Eme2 |
A |
T |
17: 24,894,569 |
|
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,660,161 |
T447I |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,143,181 |
S17P |
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,237,628 |
I317V |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,637,339 |
K578E |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,471,549 |
S1048T |
unknown |
Het |
| Fsd1l |
T |
A |
4: 53,682,200 |
|
probably null |
Het |
| Gm340 |
A |
G |
19: 41,584,315 |
K503R |
possibly damaging |
Het |
| Hexa |
T |
A |
9: 59,563,939 |
I492K |
probably benign |
Het |
| Inpp5e |
G |
A |
2: 26,397,858 |
A642V |
probably benign |
Het |
| Ints11 |
C |
T |
4: 155,886,111 |
A241V |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,006,797 |
L545P |
probably damaging |
Het |
| Katnal2 |
G |
A |
18: 76,993,575 |
A409V |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,752,455 |
V671M |
possibly damaging |
Het |
| Lbx2 |
A |
G |
6: 83,087,896 |
K138R |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,977,279 |
A558T |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,841,098 |
I202T |
probably benign |
Het |
| Magi3 |
G |
A |
3: 104,034,114 |
P842S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,666,342 |
V25M |
probably benign |
Het |
| Mthfr |
C |
T |
4: 148,053,599 |
T557I |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,237,151 |
V684L |
probably benign |
Het |
| Olfr1165-ps |
A |
T |
2: 88,101,705 |
I94N |
probably damaging |
Het |
| Olfr314 |
T |
A |
11: 58,786,484 |
Y83* |
probably null |
Het |
| Osbpl10 |
A |
T |
9: 115,223,703 |
I440F |
probably damaging |
Het |
| Otx2 |
G |
A |
14: 48,661,465 |
A36V |
probably benign |
Het |
| Parg |
A |
G |
14: 32,210,508 |
Y435C |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,282,784 |
D100V |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,045,691 |
H276R |
probably benign |
Het |
| Prune1 |
T |
A |
3: 95,255,046 |
S439C |
probably damaging |
Het |
| Pudp |
C |
G |
18: 50,568,216 |
E149Q |
possibly damaging |
Het |
| Sin3a |
C |
A |
9: 57,127,299 |
T1252N |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,737,443 |
D927G |
probably benign |
Het |
| Stx18 |
C |
T |
5: 38,104,907 |
T89I |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,660,862 |
S175P |
possibly damaging |
Het |
| Tinag |
T |
C |
9: 77,045,661 |
T14A |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,319,605 |
|
probably null |
Het |
| Trpm1 |
G |
T |
7: 64,209,981 |
E396* |
probably null |
Het |
| Txndc11 |
A |
G |
16: 11,084,299 |
Y684H |
probably damaging |
Het |
| Usp47 |
G |
A |
7: 112,093,108 |
E926K |
probably benign |
Het |
| Vmn1r233 |
A |
G |
17: 20,993,959 |
I243T |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,203,885 |
|
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,244,689 |
K289R |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,119,112 |
H511L |
probably benign |
Het |
|
| Other mutations in Cdh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Cdh4
|
APN |
2 |
179,874,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01411:Cdh4
|
APN |
2 |
179,780,403 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01752:Cdh4
|
APN |
2 |
179,890,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02814:Cdh4
|
APN |
2 |
179,780,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0082:Cdh4
|
UTSW |
2 |
179,894,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0357:Cdh4
|
UTSW |
2 |
179,847,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1521:Cdh4
|
UTSW |
2 |
179,797,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1591:Cdh4
|
UTSW |
2 |
179,886,864 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1622:Cdh4
|
UTSW |
2 |
179,889,092 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1762:Cdh4
|
UTSW |
2 |
179,797,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1794:Cdh4
|
UTSW |
2 |
179,886,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2275:Cdh4
|
UTSW |
2 |
179,890,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2277:Cdh4
|
UTSW |
2 |
179,797,524 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3686:Cdh4
|
UTSW |
2 |
179,780,367 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3861:Cdh4
|
UTSW |
2 |
179,874,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4078:Cdh4
|
UTSW |
2 |
179,889,173 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4495:Cdh4
|
UTSW |
2 |
179,780,389 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4715:Cdh4
|
UTSW |
2 |
179,780,467 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4893:Cdh4
|
UTSW |
2 |
179,847,419 (GRCm38) |
intron |
probably benign |
|
|
R5029:Cdh4
|
UTSW |
2 |
179,881,949 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5363:Cdh4
|
UTSW |
2 |
179,886,763 (GRCm38) |
missense |
probably benign |
|
|
R5542:Cdh4
|
UTSW |
2 |
179,860,226 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5773:Cdh4
|
UTSW |
2 |
179,885,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5791:Cdh4
|
UTSW |
2 |
179,895,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Cdh4
|
UTSW |
2 |
179,797,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Cdh4
|
UTSW |
2 |
179,890,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6589:Cdh4
|
UTSW |
2 |
179,881,996 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6607:Cdh4
|
UTSW |
2 |
179,874,096 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6653:Cdh4
|
UTSW |
2 |
179,780,428 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6711:Cdh4
|
UTSW |
2 |
179,890,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6744:Cdh4
|
UTSW |
2 |
179,847,387 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6824:Cdh4
|
UTSW |
2 |
179,797,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6901:Cdh4
|
UTSW |
2 |
179,860,194 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6981:Cdh4
|
UTSW |
2 |
179,797,504 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7514:Cdh4
|
UTSW |
2 |
179,890,843 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7541:Cdh4
|
UTSW |
2 |
179,444,810 (GRCm38) |
splice site |
probably null |
|
|
R7560:Cdh4
|
UTSW |
2 |
179,890,902 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8146:Cdh4
|
UTSW |
2 |
179,874,078 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8833:Cdh4
|
UTSW |
2 |
179,894,035 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9075:Cdh4
|
UTSW |
2 |
179,860,147 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9203:Cdh4
|
UTSW |
2 |
179,780,403 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Cdh4
|
UTSW |
2 |
179,780,326 (GRCm38) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAAAACTCTTTATATAGGGGC -3'
(R):5'- GAGTGCCCAGAAGAGACATCTC -3'
Sequencing Primer
(F):5'- ACTCTTTATATAGGGGCTAGTTTCC -3'
(R):5'- GCCTTAAGAACAGCCGAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation