Incidental Mutation 'R5649:Cdh22'
ID |
441306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh22
|
Ensembl Gene |
ENSMUSG00000053166 |
Gene Name |
cadherin 22 |
Synonyms |
PB-cadherin |
MMRRC Submission |
043170-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R5649 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 164958200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 589
(T589K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065438]
[ENSMUST00000138643]
|
AlphaFold |
Q9WTP5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065438
AA Change: T589K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066864 Gene: ENSMUSG00000053166 AA Change: T589K
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,330,501 (GRCm39) |
T1385A |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,149,972 (GRCm39) |
D1646E |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
Atl3 |
C |
A |
19: 7,509,592 (GRCm39) |
T435N |
possibly damaging |
Het |
Cnot3 |
T |
C |
7: 3,661,082 (GRCm39) |
L561S |
probably benign |
Het |
Col5a1 |
A |
G |
2: 27,841,468 (GRCm39) |
D363G |
unknown |
Het |
Cyp24a1 |
T |
C |
2: 170,338,229 (GRCm39) |
D105G |
possibly damaging |
Het |
Dennd4a |
C |
A |
9: 64,758,491 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 31,019,561 (GRCm39) |
K3878R |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,894,539 (GRCm39) |
S1900P |
probably benign |
Het |
Fancg |
A |
G |
4: 43,008,736 (GRCm39) |
L167P |
probably damaging |
Het |
Ighd2-8 |
A |
G |
12: 113,414,487 (GRCm39) |
S1P |
possibly damaging |
Het |
Kif28 |
A |
G |
1: 179,525,336 (GRCm39) |
|
probably null |
Het |
Mrpl55 |
T |
A |
11: 59,095,397 (GRCm39) |
C20* |
probably null |
Het |
Myo5a |
A |
G |
9: 75,079,001 (GRCm39) |
K920E |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Olfm3 |
A |
G |
3: 114,890,573 (GRCm39) |
R76G |
probably damaging |
Het |
Or14a258 |
T |
C |
7: 86,035,521 (GRCm39) |
M116V |
probably damaging |
Het |
Or2ag1 |
T |
C |
7: 106,313,373 (GRCm39) |
R172G |
possibly damaging |
Het |
Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
Phf11c |
T |
C |
14: 59,622,981 (GRCm39) |
|
probably null |
Het |
Phf20 |
T |
A |
2: 156,093,688 (GRCm39) |
|
probably null |
Het |
Plbd1 |
T |
A |
6: 136,593,987 (GRCm39) |
Y376F |
probably benign |
Het |
Poglut1 |
A |
G |
16: 38,352,173 (GRCm39) |
V257A |
probably damaging |
Het |
Reln |
A |
G |
5: 22,106,623 (GRCm39) |
I3249T |
probably benign |
Het |
Rgsl1 |
G |
A |
1: 153,701,639 (GRCm39) |
P272S |
possibly damaging |
Het |
Slc15a2 |
A |
T |
16: 36,592,472 (GRCm39) |
Y197* |
probably null |
Het |
Slc45a2 |
C |
T |
15: 11,012,693 (GRCm39) |
T232I |
probably benign |
Het |
Ssc5d |
T |
A |
7: 4,929,517 (GRCm39) |
|
probably null |
Het |
Thbs2 |
T |
C |
17: 14,910,215 (GRCm39) |
Y128C |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,238,851 (GRCm39) |
L219F |
possibly damaging |
Het |
Tmem30b |
G |
T |
12: 73,592,940 (GRCm39) |
N58K |
probably benign |
Het |
Trappc2b |
T |
C |
11: 51,576,799 (GRCm39) |
E33G |
probably benign |
Het |
Ttc29 |
G |
A |
8: 78,972,942 (GRCm39) |
E131K |
possibly damaging |
Het |
Vmn1r29 |
C |
G |
6: 58,284,676 (GRCm39) |
S132C |
probably benign |
Het |
Vmn1r53 |
G |
A |
6: 90,200,742 (GRCm39) |
A194V |
probably benign |
Het |
Wdr86 |
A |
T |
5: 24,923,085 (GRCm39) |
H202Q |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,347,239 (GRCm39) |
D3160G |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,982 (GRCm39) |
D520G |
probably benign |
Het |
Zfp607b |
T |
G |
7: 27,403,406 (GRCm39) |
C621G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCTATCCAGGCAGAACACC -3'
(R):5'- CACACTGTCTGCTTCAAGATG -3'
Sequencing Primer
(F):5'- TATCCAGGCAGAACACCAAGTCATG -3'
(R):5'- ACACTGTCTGCTTCAAGATGGGATC -3'
|
Posted On |
2016-11-08 |