Incidental Mutation 'R1444:Cdh6'
| ID |
158732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh6
|
| Ensembl Gene |
ENSMUSG00000039385 |
| Gene Name |
cadherin 6 |
| Synonyms |
K-cadherin, cad6 |
| MMRRC Submission |
039499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R1444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
13028787-13173761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13091924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 14
(G14C)
|
| 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: G14C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
AA Change: G14C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226917
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
| A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
| Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
| Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
| Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cr1l |
A |
T |
1: 194,813,510 (GRCm39) |
L35Q |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
| Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,733,382 (GRCm39) |
S176L |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
| Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
| Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
| Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
| Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
| Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
| Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
| Xrn2 |
C |
T |
2: 146,903,408 (GRCm39) |
R803W |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,402,873 (GRCm39) |
S625N |
probably damaging |
Het |
| Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
possibly damaging |
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 |
|
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'- CCTCCAGGAGGAAGAACTGATTCCAC -3'
(R):5'- TTCTGTGTACCTAAAAGACGATTGCCC -3'
Sequencing Primer
(F):5'- ACATCCAACTCCTTTTCGAACG -3'
(R):5'- AAAGACGATTGCCCTCATTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation