Incidental Mutation 'IGL02455:Cdh22'
| ID |
293809 |
| 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 # |
IGL02455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164984175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 359
(N359S)
|
| 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: N359S
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: N359S
| 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
AA Change: N359S
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: N359S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,271,021 (GRCm39) |
V479A |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,141,864 (GRCm39) |
D235G |
probably damaging |
Het |
| Cebpz |
G |
T |
17: 79,242,465 (GRCm39) |
N396K |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,720,092 (GRCm39) |
W2493R |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,787,172 (GRCm39) |
V500M |
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,990,739 (GRCm39) |
N160H |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,684,576 (GRCm39) |
S1139P |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,891,308 (GRCm39) |
I771T |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,048,724 (GRCm39) |
A121V |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,280 (GRCm39) |
L1893Q |
possibly damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,012,255 (GRCm39) |
S188T |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,841 (GRCm39) |
D143G |
probably benign |
Het |
| Foxj3 |
C |
A |
4: 119,477,434 (GRCm39) |
H381N |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,373,511 (GRCm39) |
T149S |
probably benign |
Het |
| Ift74 |
C |
T |
4: 94,524,068 (GRCm39) |
Q195* |
probably null |
Het |
| Kif2c |
C |
A |
4: 117,029,551 (GRCm39) |
M143I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,278,303 (GRCm39) |
|
probably null |
Het |
| Krt84 |
C |
T |
15: 101,434,170 (GRCm39) |
R599H |
unknown |
Het |
| Ly6g6f |
C |
T |
17: 35,301,866 (GRCm39) |
R196H |
possibly damaging |
Het |
| Map4 |
C |
A |
9: 109,828,901 (GRCm39) |
N95K |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,263 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh9 |
T |
C |
1: 162,903,149 (GRCm39) |
M85V |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,715,994 (GRCm39) |
I107T |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,617,313 (GRCm39) |
V737A |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,780,219 (GRCm39) |
T294A |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,198 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,927 (GRCm39) |
S137T |
possibly damaging |
Het |
| Or7g32 |
C |
T |
9: 19,408,559 (GRCm39) |
Q172* |
probably null |
Het |
| Parvg |
A |
G |
15: 84,214,283 (GRCm39) |
R156G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,590,189 (GRCm39) |
S830P |
unknown |
Het |
| Pde11a |
T |
C |
2: 75,988,737 (GRCm39) |
D468G |
possibly damaging |
Het |
| Peak1 |
A |
T |
9: 56,134,757 (GRCm39) |
S195T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,434,425 (GRCm39) |
Y2338H |
probably damaging |
Het |
| Ppp1r1b |
A |
T |
11: 98,241,395 (GRCm39) |
I28F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,400,084 (GRCm39) |
Y2326C |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,302 (GRCm39) |
L223I |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,902,841 (GRCm39) |
Y310N |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,615,398 (GRCm39) |
D76N |
possibly damaging |
Het |
| Slfn4 |
A |
T |
11: 83,077,584 (GRCm39) |
N124I |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,944,163 (GRCm39) |
V519I |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,314,460 (GRCm39) |
E365K |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,206,272 (GRCm39) |
|
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,025,245 (GRCm39) |
I338N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,457 (GRCm39) |
R205S |
probably damaging |
Het |
| Wdr19 |
G |
T |
5: 65,382,102 (GRCm39) |
A441S |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,077,037 (GRCm39) |
D796G |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,821,038 (GRCm39) |
S712P |
probably damaging |
Het |
| Zcchc14 |
A |
G |
8: 122,333,009 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
T |
G |
18: 55,032,405 (GRCm39) |
S512R |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation