Incidental Mutation 'R1592:Cdh26'
| ID |
175661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh26
|
| Ensembl Gene |
ENSMUSG00000039155 |
| Gene Name |
cadherin-like 26 |
| Synonyms |
LOC381409 |
| MMRRC Submission |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
178072324-178129159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 178091684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 81
(F81S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042092]
[ENSMUST00000108912]
|
| AlphaFold |
P59862 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042092
AA Change: F81S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048829
Gene: ENSMUSG00000039155
AA Change: F81S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
36 |
138 |
5.06e-2 |
SMART |
|
CA
|
162 |
248 |
1.23e-19 |
SMART |
|
CA
|
271 |
370 |
1.01e-6 |
SMART |
|
CA
|
393 |
476 |
2.86e-20 |
SMART |
|
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108912
AA Change: F81S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104540
Gene: ENSMUSG00000039155
AA Change: F81S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
36 |
138 |
5.06e-2 |
SMART |
|
CA
|
162 |
248 |
1.23e-19 |
SMART |
|
CA
|
271 |
370 |
1.01e-6 |
SMART |
|
CA
|
393 |
476 |
2.86e-20 |
SMART |
|
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4317 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably damaging |
Het |
|
| Other mutations in Cdh26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Cdh26
|
APN |
2 |
178,123,417 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01341:Cdh26
|
APN |
2 |
178,099,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02636:Cdh26
|
APN |
2 |
178,091,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Cdh26
|
APN |
2 |
178,109,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0244:Cdh26
|
UTSW |
2 |
178,123,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0245:Cdh26
|
UTSW |
2 |
178,123,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0466:Cdh26
|
UTSW |
2 |
178,123,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0467:Cdh26
|
UTSW |
2 |
178,123,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0514:Cdh26
|
UTSW |
2 |
178,108,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0610:Cdh26
|
UTSW |
2 |
178,091,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0733:Cdh26
|
UTSW |
2 |
178,128,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Cdh26
|
UTSW |
2 |
178,108,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Cdh26
|
UTSW |
2 |
178,111,794 (GRCm39) |
splice site |
probably benign |
|
|
R4617:Cdh26
|
UTSW |
2 |
178,102,435 (GRCm39) |
intron |
probably benign |
|
|
R4914:Cdh26
|
UTSW |
2 |
178,091,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4915:Cdh26
|
UTSW |
2 |
178,091,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4917:Cdh26
|
UTSW |
2 |
178,091,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4918:Cdh26
|
UTSW |
2 |
178,091,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5086:Cdh26
|
UTSW |
2 |
178,083,210 (GRCm39) |
nonsense |
probably null |
|
|
R5573:Cdh26
|
UTSW |
2 |
178,108,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5809:Cdh26
|
UTSW |
2 |
178,101,919 (GRCm39) |
nonsense |
probably null |
|
|
R5941:Cdh26
|
UTSW |
2 |
178,123,443 (GRCm39) |
nonsense |
probably null |
|
|
R6284:Cdh26
|
UTSW |
2 |
178,091,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Cdh26
|
UTSW |
2 |
178,113,366 (GRCm39) |
splice site |
probably null |
|
|
R6496:Cdh26
|
UTSW |
2 |
178,091,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Cdh26
|
UTSW |
2 |
178,128,555 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7664:Cdh26
|
UTSW |
2 |
178,111,835 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7694:Cdh26
|
UTSW |
2 |
178,101,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7814:Cdh26
|
UTSW |
2 |
178,111,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8089:Cdh26
|
UTSW |
2 |
178,099,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8103:Cdh26
|
UTSW |
2 |
178,110,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Cdh26
|
UTSW |
2 |
178,104,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8413:Cdh26
|
UTSW |
2 |
178,110,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9025:Cdh26
|
UTSW |
2 |
178,104,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9621:Cdh26
|
UTSW |
2 |
178,111,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Cdh26
|
UTSW |
2 |
178,083,213 (GRCm39) |
missense |
|
|
|
RF002:Cdh26
|
UTSW |
2 |
178,108,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCTCTTGGAAGTGTGATGGC -3'
(R):5'- ATGTCCCACATGGACCTCCGTAAC -3'
Sequencing Primer
(F):5'- ATGGCTTGTTTCTATTCCTGAAAG -3'
(R):5'- CACTGGGAAATGTACAAGCTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation