Incidental Mutation 'IGL03231:Cdh22'
ID |
413921 |
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: 0.137)
|
Stock # |
IGL03231
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 164958126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 614
(V614I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065438]
[ENSMUST00000138643]
|
AlphaFold |
Q9WTP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065438
AA Change: V614I
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066864 Gene: ENSMUSG00000053166 AA Change: V614I
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably damaging |
Het |
|
Other mutations in Cdh22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Cdh22
|
APN |
2 |
164,954,521 (GRCm39) |
missense |
possibly damaging |
0.54 |
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 |
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 |
2016-08-02 |