Incidental Mutation 'R8308:Cdh22'
| ID |
641180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh22
|
| Ensembl Gene |
ENSMUSG00000053166 |
| Gene Name |
cadherin 22 |
| Synonyms |
PB-cadherin |
| MMRRC Submission |
067793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R8308 (G1)
|
| Quality Score |
115.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 164954098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 808
(D808Y)
|
| 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: D808Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: D808Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,659,570 (GRCm39) |
D341G |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,486,657 (GRCm39) |
T1457A |
probably damaging |
Het |
| Acot8 |
A |
T |
2: 164,646,663 (GRCm39) |
S25R |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,210,212 (GRCm39) |
V850A |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,214,487 (GRCm39) |
E402D |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,943,815 (GRCm39) |
K2689E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,809 (GRCm39) |
T223A |
probably benign |
Het |
| Crem |
G |
T |
18: 3,295,397 (GRCm39) |
T57K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,656,516 (GRCm39) |
I393F |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,790,371 (GRCm39) |
V1451L |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,664,075 (GRCm39) |
V224A |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,190,586 (GRCm39) |
S152C |
unknown |
Het |
| Gcsam |
A |
T |
16: 45,430,902 (GRCm39) |
N3I |
probably damaging |
Het |
| Gm10188 |
C |
T |
1: 132,157,310 (GRCm39) |
V19I |
unknown |
Het |
| Gpr27 |
T |
C |
6: 99,670,217 (GRCm39) |
L193P |
probably damaging |
Het |
| Grin2b |
A |
T |
6: 135,900,074 (GRCm39) |
V269E |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,651 (GRCm39) |
I1275V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,239,862 (GRCm39) |
E234G |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,094,121 (GRCm39) |
S18A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,886 (GRCm39) |
T4A |
probably benign |
Het |
| Mettl23 |
G |
A |
11: 116,739,185 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,479,817 (GRCm39) |
W54R |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,803,606 (GRCm39) |
Y286H |
probably damaging |
Het |
| Or10d5j |
T |
A |
9: 39,868,265 (GRCm39) |
M1L |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,582,922 (GRCm39) |
I326V |
probably benign |
Het |
| Or5ac15 |
C |
T |
16: 58,939,899 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pmch |
A |
G |
10: 87,927,614 (GRCm39) |
Y105C |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,819,676 (GRCm39) |
T57A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,838 (GRCm39) |
E877G |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,566 (GRCm39) |
V433A |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Scara5 |
C |
T |
14: 65,927,234 (GRCm39) |
R44W |
probably damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,576 (GRCm39) |
K49T |
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,180 (GRCm39) |
I424T |
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,693,735 (GRCm39) |
S479T |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,929,456 (GRCm39) |
D1139G |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,152,353 (GRCm39) |
I2206V |
possibly damaging |
Het |
| Tpk1 |
T |
C |
6: 43,642,711 (GRCm39) |
E9G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,642,645 (GRCm39) |
V13297I |
possibly damaging |
Het |
| Uchl3 |
T |
C |
14: 101,932,655 (GRCm39) |
|
probably null |
Het |
| Usp12 |
T |
C |
5: 146,688,751 (GRCm39) |
D201G |
probably damaging |
Het |
| Vmn1r193 |
C |
T |
13: 22,403,146 (GRCm39) |
R282H |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,040 (GRCm39) |
D461G |
possibly damaging |
Het |
| Zfp131 |
A |
G |
13: 120,244,440 (GRCm39) |
M80T |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,441,663 (GRCm39) |
L304P |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,663,566 (GRCm39) |
E682G |
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 |
|
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 |
|
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'- ATTGTCCTTTCCCAGAGCCG -3'
(R):5'- CGGTGTTCAGGGACTTCATC -3'
Sequencing Primer
(F):5'- TTTCCCAGAGCCGGGTTC -3'
(R):5'- TGTTCAGGGACTTCATCAGCCG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation