Incidental Mutation 'R1622:Cdh4'
ID |
174692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh4
|
Ensembl Gene |
ENSMUSG00000000305 |
Gene Name |
cadherin 4 |
Synonyms |
R-Cadh, R-cadherin, Rcad |
MMRRC Submission |
039659-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1622 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
179084228-179541166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 179530885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 589
(I589T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
[ENSMUST00000098996]
|
AlphaFold |
P39038 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000314
AA Change: I589T
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000314 Gene: ENSMUSG00000000305 AA Change: I589T
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
|
Meta Mutation Damage Score |
0.1514 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (55/56) |
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 |
Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTAGCCTTGCTGAGAACTGTC -3'
(R):5'- TCTCCCCAGCCTGTATGAACAGTC -3'
Sequencing Primer
(F):5'- CTTGTAGAAGAGAAGGCATTCTCCC -3'
(R):5'- GGCTGGACCCTAAATACTTAGCTC -3'
|
Posted On |
2014-04-24 |