Incidental Mutation 'R2272:Cdh22'
ID |
242537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh22
|
Ensembl Gene |
ENSMUSG00000053166 |
Gene Name |
cadherin 22 |
Synonyms |
PB-cadherin |
MMRRC Submission |
040272-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R2272 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 164985767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065438]
[ENSMUST00000065438]
[ENSMUST00000065438]
[ENSMUST00000138643]
[ENSMUST00000138643]
|
AlphaFold |
Q9WTP5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065438
|
SMART Domains |
Protein: ENSMUSP00000066864 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 |
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 null
Transcript: ENSMUST00000065438
|
SMART Domains |
Protein: ENSMUSP00000066864 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 |
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 null
Transcript: ENSMUST00000065438
|
SMART Domains |
Protein: ENSMUSP00000066864 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 |
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 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
Ago1 |
C |
A |
4: 126,347,443 (GRCm39) |
M435I |
probably benign |
Het |
Apol7b |
G |
A |
15: 77,307,910 (GRCm39) |
A195V |
probably damaging |
Het |
Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
Atg2b |
C |
T |
12: 105,604,267 (GRCm39) |
V1545I |
probably benign |
Het |
Atp4a |
C |
A |
7: 30,414,925 (GRCm39) |
S238* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,909,966 (GRCm39) |
V1453A |
probably benign |
Het |
Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,777,142 (GRCm39) |
R530G |
possibly damaging |
Het |
Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,923,322 (GRCm39) |
V45A |
probably benign |
Het |
Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,808,530 (GRCm39) |
N195S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,188 (GRCm39) |
D872G |
probably benign |
Het |
Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably damaging |
Het |
Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
Hydin |
A |
T |
8: 111,035,764 (GRCm39) |
I152L |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,900,529 (GRCm39) |
D242V |
probably damaging |
Het |
Klhl1 |
T |
C |
14: 96,755,344 (GRCm39) |
D137G |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,820,396 (GRCm39) |
D3282G |
possibly damaging |
Het |
Lhx8 |
A |
G |
3: 154,022,399 (GRCm39) |
L254S |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
Matn4 |
A |
T |
2: 164,239,162 (GRCm39) |
C232S |
possibly damaging |
Het |
Mios |
C |
T |
6: 8,226,865 (GRCm39) |
R614C |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
A |
7: 141,217,423 (GRCm39) |
T2417S |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,381,774 (GRCm39) |
H3612R |
probably null |
Het |
Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
Myo7b |
C |
T |
18: 32,110,096 (GRCm39) |
S1122N |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,584 (GRCm39) |
F549I |
probably damaging |
Het |
Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
Neil1 |
A |
G |
9: 57,054,069 (GRCm39) |
S84P |
probably damaging |
Het |
Nfix |
A |
G |
8: 85,453,804 (GRCm39) |
I256T |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,222 (GRCm39) |
D474E |
probably benign |
Het |
Or5ac21 |
T |
G |
16: 59,123,807 (GRCm39) |
M98R |
possibly damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 82,042,088 (GRCm39) |
V2240A |
probably benign |
Het |
Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,189 (GRCm39) |
V946E |
probably damaging |
Het |
Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
Prss54 |
C |
T |
8: 96,297,735 (GRCm39) |
W45* |
probably null |
Het |
Psg29 |
A |
T |
7: 16,944,621 (GRCm39) |
N377I |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
Serpinb9c |
C |
T |
13: 33,338,524 (GRCm39) |
G125E |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,977,065 (GRCm39) |
T152A |
probably benign |
Het |
Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
Slc47a2 |
A |
T |
11: 61,219,352 (GRCm39) |
|
probably null |
Het |
Ttc39d |
A |
G |
17: 80,524,675 (GRCm39) |
K445E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,594,864 (GRCm39) |
E20394V |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,214,114 (GRCm39) |
V510A |
possibly damaging |
Het |
Usf1 |
T |
C |
1: 171,245,628 (GRCm39) |
L291P |
possibly damaging |
Het |
Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
Vmn1r172 |
A |
C |
7: 23,359,616 (GRCm39) |
D167A |
probably damaging |
Het |
Wnt10b |
T |
A |
15: 98,672,228 (GRCm39) |
Q163L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCACTATGATGGCTTCCTG -3'
(R):5'- TGCATGATCCTGCCCTTCAG -3'
Sequencing Primer
(F):5'- CACTATGATGGCTTCCTGAGTGTC -3'
(R):5'- CCTTCAGAGGGCAGGGC -3'
|
Posted On |
2014-10-16 |