Incidental Mutation 'R3903:Cdh6'
ID |
309277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh6
|
Ensembl Gene |
ENSMUSG00000039385 |
Gene Name |
cadherin 6 |
Synonyms |
K-cadherin, cad6 |
MMRRC Submission |
040907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R3903 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
13028787-13173761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13042661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 499
(K499R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036439]
|
AlphaFold |
P97326 |
PDB Structure |
Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036439
AA Change: K499R
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000037113 Gene: ENSMUSG00000039385 AA Change: K499R
Domain | Start | End | E-Value | Type |
CA
|
76 |
157 |
7e-15 |
SMART |
CA
|
181 |
266 |
9.06e-32 |
SMART |
CA
|
290 |
382 |
1.14e-19 |
SMART |
CA
|
405 |
486 |
8.81e-21 |
SMART |
CA
|
509 |
596 |
2.82e-10 |
SMART |
transmembrane domain
|
614 |
636 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
639 |
783 |
5.6e-57 |
PFAM |
|
Meta Mutation Damage Score |
0.0653 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (32/32) |
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. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
probably benign |
Het |
|
Other mutations in Cdh6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00560:Cdh6
|
APN |
15 |
13,034,445 (GRCm39) |
nonsense |
probably null |
|
IGL00675:Cdh6
|
APN |
15 |
13,041,525 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01063:Cdh6
|
APN |
15 |
13,064,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01335:Cdh6
|
APN |
15 |
13,051,395 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01351:Cdh6
|
APN |
15 |
13,034,326 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02010:Cdh6
|
APN |
15 |
13,034,276 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02428:Cdh6
|
APN |
15 |
13,064,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4651001:Cdh6
|
UTSW |
15 |
13,044,805 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0124:Cdh6
|
UTSW |
15 |
13,034,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:Cdh6
|
UTSW |
15 |
13,053,868 (GRCm39) |
splice site |
probably benign |
|
R0696:Cdh6
|
UTSW |
15 |
13,051,418 (GRCm39) |
missense |
probably benign |
0.36 |
R1017:Cdh6
|
UTSW |
15 |
13,051,562 (GRCm39) |
missense |
probably benign |
0.06 |
R1240:Cdh6
|
UTSW |
15 |
13,057,541 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1444:Cdh6
|
UTSW |
15 |
13,091,924 (GRCm39) |
missense |
probably benign |
0.00 |
R2008:Cdh6
|
UTSW |
15 |
13,051,562 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2050:Cdh6
|
UTSW |
15 |
13,057,587 (GRCm39) |
missense |
probably benign |
|
R2507:Cdh6
|
UTSW |
15 |
13,041,447 (GRCm39) |
missense |
probably benign |
0.10 |
R3082:Cdh6
|
UTSW |
15 |
13,044,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R3083:Cdh6
|
UTSW |
15 |
13,044,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4591:Cdh6
|
UTSW |
15 |
13,051,572 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4859:Cdh6
|
UTSW |
15 |
13,051,418 (GRCm39) |
missense |
probably benign |
0.36 |
R4898:Cdh6
|
UTSW |
15 |
13,034,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R5242:Cdh6
|
UTSW |
15 |
13,064,497 (GRCm39) |
missense |
probably benign |
0.05 |
R5313:Cdh6
|
UTSW |
15 |
13,034,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R5545:Cdh6
|
UTSW |
15 |
13,041,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Cdh6
|
UTSW |
15 |
13,041,546 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6650:Cdh6
|
UTSW |
15 |
13,051,487 (GRCm39) |
missense |
probably benign |
0.11 |
R6830:Cdh6
|
UTSW |
15 |
13,044,860 (GRCm39) |
missense |
probably benign |
0.01 |
R7369:Cdh6
|
UTSW |
15 |
13,042,724 (GRCm39) |
missense |
probably damaging |
0.99 |
R7506:Cdh6
|
UTSW |
15 |
13,034,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8121:Cdh6
|
UTSW |
15 |
13,044,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R8801:Cdh6
|
UTSW |
15 |
13,044,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R8961:Cdh6
|
UTSW |
15 |
13,041,447 (GRCm39) |
missense |
probably benign |
0.12 |
R9218:Cdh6
|
UTSW |
15 |
13,057,556 (GRCm39) |
missense |
probably null |
0.37 |
R9258:Cdh6
|
UTSW |
15 |
13,064,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Cdh6
|
UTSW |
15 |
13,034,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9608:Cdh6
|
UTSW |
15 |
13,064,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9636:Cdh6
|
UTSW |
15 |
13,057,655 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGCAAAGACCTCTCAG -3'
(R):5'- TTGTTGTCTAAGGAGAATCAGTGAC -3'
Sequencing Primer
(F):5'- CCTTGGAGACTGATGAACTTCCAG -3'
(R):5'- GACTGACACAAAAATGCCTGTTTC -3'
|
Posted On |
2015-04-17 |