Incidental Mutation 'R4243:Cdh13'
| ID |
320302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh13
|
| Ensembl Gene |
ENSMUSG00000031841 |
| Gene Name |
cadherin 13 |
| Synonyms |
T-cadherin, 4932416G01Rik, Tcad |
| MMRRC Submission |
041643-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
119010472-120051660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119968996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 451
(V451E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117160]
|
| AlphaFold |
Q9WTR5 |
| PDB Structure |
Crystal Structure of mouse T-cadherin EC1 EC2 [X-RAY DIFFRACTION]
Crystal structure of mouse T-cadherin EC1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117160
AA Change: V451E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: V451E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
26 |
112 |
1.04e-17 |
SMART |
|
CA
|
160 |
243 |
1.49e-18 |
SMART |
|
CA
|
267 |
361 |
1.84e-23 |
SMART |
|
CA
|
383 |
476 |
8.75e-16 |
SMART |
|
CA
|
499 |
583 |
2.36e-21 |
SMART |
|
CA
|
604 |
687 |
5.93e-2 |
SMART |
|
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212476
|
| Meta Mutation Damage Score |
0.1267 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| 4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
| Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
| Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
Het |
|
| Other mutations in Cdh13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Cdh13
|
APN |
8 |
120,039,245 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00659:Cdh13
|
APN |
8 |
120,039,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Cdh13
|
APN |
8 |
119,401,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01719:Cdh13
|
APN |
8 |
119,401,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02148:Cdh13
|
APN |
8 |
119,925,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Cdh13
|
APN |
8 |
119,232,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02188:Cdh13
|
APN |
8 |
119,578,500 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02490:Cdh13
|
APN |
8 |
119,822,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Cdh13
|
APN |
8 |
119,401,897 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02958:Cdh13
|
APN |
8 |
120,039,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03085:Cdh13
|
APN |
8 |
120,015,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03230:Cdh13
|
APN |
8 |
119,969,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03280:Cdh13
|
APN |
8 |
120,040,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Cdh13
|
UTSW |
8 |
119,401,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0038:Cdh13
|
UTSW |
8 |
119,401,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0398:Cdh13
|
UTSW |
8 |
120,040,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Cdh13
|
UTSW |
8 |
119,963,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3415:Cdh13
|
UTSW |
8 |
119,401,946 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4839:Cdh13
|
UTSW |
8 |
119,578,587 (GRCm39) |
nonsense |
probably null |
|
|
R4851:Cdh13
|
UTSW |
8 |
119,484,129 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5129:Cdh13
|
UTSW |
8 |
119,821,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5453:Cdh13
|
UTSW |
8 |
119,925,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Cdh13
|
UTSW |
8 |
119,484,213 (GRCm39) |
missense |
probably benign |
|
|
R5608:Cdh13
|
UTSW |
8 |
119,484,213 (GRCm39) |
missense |
probably benign |
|
|
R5610:Cdh13
|
UTSW |
8 |
119,578,462 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6035:Cdh13
|
UTSW |
8 |
119,232,437 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6035:Cdh13
|
UTSW |
8 |
119,232,437 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6556:Cdh13
|
UTSW |
8 |
119,694,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7124:Cdh13
|
UTSW |
8 |
119,694,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Cdh13
|
UTSW |
8 |
119,969,097 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7418:Cdh13
|
UTSW |
8 |
120,039,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Cdh13
|
UTSW |
8 |
119,963,658 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7807:Cdh13
|
UTSW |
8 |
119,010,594 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R8777:Cdh13
|
UTSW |
8 |
119,963,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8777-TAIL:Cdh13
|
UTSW |
8 |
119,963,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9175:Cdh13
|
UTSW |
8 |
119,968,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9481:Cdh13
|
UTSW |
8 |
119,963,676 (GRCm39) |
missense |
|
|
|
X0025:Cdh13
|
UTSW |
8 |
119,232,418 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAAGCCCAGATCTCTC -3'
(R):5'- TATTCGAAGGTCCCGAGGAG -3'
Sequencing Primer
(F):5'- TCCCCACATGCTCACAGCTG -3'
(R):5'- AGGAGCTCACCTACCTGATAGTTTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation