Incidental Mutation 'R8961:Cdh6'
| ID |
682357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh6
|
| Ensembl Gene |
ENSMUSG00000039385 |
| Gene Name |
cadherin 6 |
| Synonyms |
K-cadherin, cad6 |
| MMRRC Submission |
068795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R8961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
13028787-13173761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13041447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 539
(I539K)
|
| 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: I539K
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
AA Change: I539K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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. 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
A |
3: 19,664,633 (GRCm39) |
|
probably benign |
Het |
| Angptl6 |
T |
C |
9: 20,789,467 (GRCm39) |
T142A |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,555,414 (GRCm39) |
I202V |
probably benign |
Het |
| B3gat2 |
A |
T |
1: 23,801,900 (GRCm39) |
D62V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,573 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Ccp110 |
T |
G |
7: 118,322,110 (GRCm39) |
D588E |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,467,489 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,680,117 (GRCm39) |
S953P |
possibly damaging |
Het |
| Dennd2a |
T |
C |
6: 39,462,555 (GRCm39) |
K652E |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,132,998 (GRCm39) |
R135* |
probably null |
Het |
| Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
| Elfn2 |
T |
C |
15: 78,557,378 (GRCm39) |
S390G |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,812 (GRCm39) |
N78I |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,945,632 (GRCm39) |
|
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,677,826 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,470,666 (GRCm39) |
V2198A |
possibly damaging |
Het |
| Kndc1 |
T |
A |
7: 139,503,976 (GRCm39) |
F1093L |
possibly damaging |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 68,986,821 (GRCm39) |
T523A |
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,409,931 (GRCm39) |
D202G |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,472,765 (GRCm39) |
T985M |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,407 (GRCm39) |
S596P |
probably benign |
Het |
| Misp |
A |
G |
10: 79,663,823 (GRCm39) |
Q599R |
probably benign |
Het |
| Mogs |
C |
A |
6: 83,092,720 (GRCm39) |
F53L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,128,099 (GRCm39) |
N167Y |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,926,461 (GRCm39) |
E53K |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,177 (GRCm39) |
I256F |
probably damaging |
Het |
| Or52l1 |
A |
G |
7: 104,830,376 (GRCm39) |
I48T |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,610 (GRCm39) |
M142K |
probably damaging |
Het |
| Or6c5c |
C |
T |
10: 129,299,225 (GRCm39) |
P227S |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,763 (GRCm39) |
V218A |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,726,717 (GRCm39) |
I2263T |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,865,262 (GRCm39) |
M717T |
probably benign |
Het |
| Rest |
A |
G |
5: 77,416,482 (GRCm39) |
H232R |
probably damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,587,362 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
A |
2: 119,557,377 (GRCm39) |
F465I |
probably benign |
Het |
| Skil |
T |
C |
3: 31,167,729 (GRCm39) |
S454P |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,155,285 (GRCm39) |
Y450H |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,414 (GRCm39) |
E971V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,187,695 (GRCm39) |
M1K |
probably null |
Het |
| Srcap |
C |
G |
7: 127,141,101 (GRCm39) |
P1566R |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
T |
C |
7: 83,256,970 (GRCm39) |
Y408H |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,855,642 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,839,524 (GRCm39) |
N442K |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
| Vwa7 |
C |
T |
17: 35,238,086 (GRCm39) |
T229I |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
| Zcchc9 |
C |
A |
13: 91,953,955 (GRCm39) |
|
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 |
|
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 |
|
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'- TCCGAAATGACCACAGGCAG -3'
(R):5'- CCCTGTGAGAACCACTTTCG -3'
Sequencing Primer
(F):5'- CAGGAGATAGGTGCTCATCTC -3'
(R):5'- TGAGAACCACTTTCGGGCCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation