Incidental Mutation 'IGL00392:Cdh22'
ID |
6968 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdh22
|
Ensembl Gene |
ENSMUSG00000053166 |
Gene Name |
cadherin 22 |
Synonyms |
PB-cadherin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL00392
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 164954521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 667
(Y667H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065438]
[ENSMUST00000138643]
|
AlphaFold |
Q9WTP5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065438
AA Change: Y667H
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000066864 Gene: ENSMUSG00000053166 AA Change: Y667H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
CA
|
82 |
163 |
2.19e-16 |
SMART |
CA
|
187 |
272 |
3.11e-30 |
SMART |
CA
|
296 |
390 |
4.88e-14 |
SMART |
CA
|
413 |
494 |
2.27e-23 |
SMART |
CA
|
517 |
604 |
4.52e-9 |
SMART |
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
647 |
803 |
4.3e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138643
|
SMART Domains |
Protein: ENSMUSP00000120785 Gene: ENSMUSG00000053166
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
CA
|
82 |
163 |
2.19e-16 |
SMART |
CA
|
187 |
272 |
3.11e-30 |
SMART |
CA
|
296 |
390 |
4.88e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
C |
7: 80,727,757 (GRCm39) |
Y296H |
possibly damaging |
Het |
Armh3 |
T |
G |
19: 45,928,927 (GRCm39) |
H389P |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,705 (GRCm39) |
T1490A |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,987,102 (GRCm39) |
D1732V |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,016,258 (GRCm39) |
I273T |
probably benign |
Het |
Carmil1 |
G |
A |
13: 24,278,474 (GRCm39) |
T165I |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,881,722 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,815,546 (GRCm39) |
Q1823L |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,602,328 (GRCm39) |
H361R |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,027,826 (GRCm39) |
|
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,314,924 (GRCm39) |
|
probably benign |
Het |
Dip2c |
A |
T |
13: 9,543,144 (GRCm39) |
D30V |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,695,749 (GRCm39) |
D503G |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,521,325 (GRCm39) |
I801F |
possibly damaging |
Het |
Fnbp4 |
A |
C |
2: 90,581,966 (GRCm39) |
|
probably benign |
Het |
Klk1b5 |
T |
A |
7: 43,865,928 (GRCm39) |
W2R |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,064,261 (GRCm39) |
K1240R |
probably benign |
Het |
Matn2 |
A |
G |
15: 34,403,002 (GRCm39) |
N409S |
probably benign |
Het |
Mep1b |
A |
T |
18: 21,217,243 (GRCm39) |
K121* |
probably null |
Het |
Mettl26 |
T |
C |
17: 26,095,098 (GRCm39) |
|
probably null |
Het |
Myh7 |
T |
C |
14: 55,224,845 (GRCm39) |
E574G |
probably damaging |
Het |
Nfkbie |
G |
A |
17: 45,871,139 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
T |
C |
17: 74,753,529 (GRCm39) |
R285G |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,333,144 (GRCm39) |
Y66C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,876 (GRCm39) |
D1523G |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,724,159 (GRCm39) |
|
probably benign |
Het |
Prom1 |
A |
G |
5: 44,164,363 (GRCm39) |
|
probably null |
Het |
Ptk6 |
T |
C |
2: 180,837,611 (GRCm39) |
D436G |
probably benign |
Het |
Robo4 |
T |
A |
9: 37,319,525 (GRCm39) |
F592I |
probably damaging |
Het |
Sec24c |
C |
A |
14: 20,743,271 (GRCm39) |
S964R |
probably benign |
Het |
Sgcb |
G |
T |
5: 73,793,021 (GRCm39) |
N260K |
possibly damaging |
Het |
Smarcd2 |
T |
C |
11: 106,156,730 (GRCm39) |
D221G |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
Zfpl1 |
C |
A |
19: 6,131,137 (GRCm39) |
R285L |
possibly damaging |
Het |
|
Other mutations in Cdh22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01868:Cdh22
|
APN |
2 |
164,999,278 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01932:Cdh22
|
APN |
2 |
165,012,728 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02268:Cdh22
|
APN |
2 |
164,965,639 (GRCm39) |
splice site |
probably benign |
|
IGL02455:Cdh22
|
APN |
2 |
164,984,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03231:Cdh22
|
APN |
2 |
164,958,126 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03264:Cdh22
|
APN |
2 |
164,958,093 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03014:Cdh22
|
UTSW |
2 |
164,954,331 (GRCm39) |
nonsense |
probably null |
|
R0712:Cdh22
|
UTSW |
2 |
165,012,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Cdh22
|
UTSW |
2 |
165,022,976 (GRCm39) |
missense |
probably damaging |
0.98 |
R1192:Cdh22
|
UTSW |
2 |
164,977,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R1700:Cdh22
|
UTSW |
2 |
165,012,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1844:Cdh22
|
UTSW |
2 |
164,985,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Cdh22
|
UTSW |
2 |
165,022,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R2137:Cdh22
|
UTSW |
2 |
164,958,314 (GRCm39) |
splice site |
probably benign |
|
R2270:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
R2271:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
R2272:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
R4021:Cdh22
|
UTSW |
2 |
164,985,593 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4022:Cdh22
|
UTSW |
2 |
164,999,173 (GRCm39) |
missense |
probably benign |
0.14 |
R4613:Cdh22
|
UTSW |
2 |
164,985,576 (GRCm39) |
missense |
probably benign |
|
R4625:Cdh22
|
UTSW |
2 |
164,954,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R5038:Cdh22
|
UTSW |
2 |
164,984,197 (GRCm39) |
missense |
probably benign |
0.16 |
R5057:Cdh22
|
UTSW |
2 |
164,958,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R5649:Cdh22
|
UTSW |
2 |
164,958,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Cdh22
|
UTSW |
2 |
164,988,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R6297:Cdh22
|
UTSW |
2 |
164,985,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6445:Cdh22
|
UTSW |
2 |
165,012,612 (GRCm39) |
missense |
probably damaging |
0.97 |
R7294:Cdh22
|
UTSW |
2 |
164,984,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7310:Cdh22
|
UTSW |
2 |
164,954,214 (GRCm39) |
nonsense |
probably null |
|
R7595:Cdh22
|
UTSW |
2 |
164,954,383 (GRCm39) |
missense |
probably benign |
0.00 |
R7601:Cdh22
|
UTSW |
2 |
164,954,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8047:Cdh22
|
UTSW |
2 |
165,012,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R8308:Cdh22
|
UTSW |
2 |
164,954,098 (GRCm39) |
missense |
probably damaging |
0.99 |
R8480:Cdh22
|
UTSW |
2 |
164,988,646 (GRCm39) |
missense |
probably benign |
|
R8526:Cdh22
|
UTSW |
2 |
164,954,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R8771:Cdh22
|
UTSW |
2 |
164,988,689 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8927:Cdh22
|
UTSW |
2 |
164,965,504 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8928:Cdh22
|
UTSW |
2 |
164,965,504 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9158:Cdh22
|
UTSW |
2 |
165,012,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9433:Cdh22
|
UTSW |
2 |
164,954,329 (GRCm39) |
missense |
probably benign |
0.32 |
R9498:Cdh22
|
UTSW |
2 |
164,954,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R9638:Cdh22
|
UTSW |
2 |
164,988,687 (GRCm39) |
missense |
probably damaging |
0.97 |
R9657:Cdh22
|
UTSW |
2 |
164,965,715 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Cdh22
|
UTSW |
2 |
164,954,350 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cdh22
|
UTSW |
2 |
164,958,104 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cdh22
|
UTSW |
2 |
164,988,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |