Incidental Mutation 'R0256:Cdh6'
| ID |
34753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh6
|
| Ensembl Gene |
ENSMUSG00000039385 |
| Gene Name |
cadherin 6 |
| Synonyms |
K-cadherin, cad6 |
| MMRRC Submission |
038487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R0256 (G1)
|
| Quality Score |
122 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
13028787-13173761 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 13053868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
| 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 |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
| Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
| Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
| Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
| Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
| Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
| Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
| Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
| Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
| Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
| Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
| Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
| Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
| Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
| Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
| Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
| Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
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 |
|
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 |
|
R3903:Cdh6
|
UTSW |
15 |
13,042,661 (GRCm39) |
missense |
probably benign |
0.39 |
|
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'- GAGGCCAGAAGTCACCATCATGTC -3'
(R):5'- AGTGTCTGCCTCACCATGTGTTTG -3'
Sequencing Primer
(F):5'- tgctcgaccacctagcc -3'
(R):5'- GTTTAAGACCCCCGAGTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation