Incidental Mutation 'R7601:Cdh22'
| ID |
587999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh22
|
| Ensembl Gene |
ENSMUSG00000053166 |
| Gene Name |
cadherin 22 |
| Synonyms |
PB-cadherin |
| MMRRC Submission |
045643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R7601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 164954466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 685
(L685P)
|
| 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: L685P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: L685P
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,741 (GRCm39) |
L16P |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,193,882 (GRCm39) |
Y746* |
probably null |
Het |
| Abcd4 |
A |
G |
12: 84,660,719 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,715 (GRCm39) |
D342G |
probably damaging |
Het |
| Als2 |
G |
T |
1: 59,209,161 (GRCm39) |
T1466K |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,687,603 (GRCm39) |
I465N |
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,846,627 (GRCm39) |
S309P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,772 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,464,655 (GRCm39) |
E145* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,905,129 (GRCm39) |
V161E |
probably benign |
Het |
| Eeig2 |
T |
A |
3: 108,895,628 (GRCm39) |
T151S |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,398,147 (GRCm39) |
G279D |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,405,042 (GRCm39) |
K20R |
possibly damaging |
Het |
| Hspa4l |
T |
C |
3: 40,738,788 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,080,394 (GRCm39) |
I733L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,604,208 (GRCm39) |
V32A |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lum |
A |
T |
10: 97,404,168 (GRCm39) |
Y21F |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,216,454 (GRCm39) |
S2740P |
unknown |
Het |
| Nav1 |
A |
T |
1: 135,388,176 (GRCm39) |
D1082E |
unknown |
Het |
| Nmur1 |
A |
C |
1: 86,315,741 (GRCm39) |
C41W |
probably damaging |
Het |
| Or10ad1c |
G |
A |
15: 98,084,860 (GRCm39) |
H273Y |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,565 (GRCm39) |
V267A |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,597 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,674 (GRCm39) |
V76A |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,094,808 (GRCm39) |
S531P |
not run |
Het |
| Phtf1 |
T |
A |
3: 103,901,161 (GRCm39) |
H403Q |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,210,220 (GRCm39) |
|
probably null |
Het |
| Pigh |
G |
A |
12: 79,132,479 (GRCm39) |
T111I |
probably damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,304 (GRCm39) |
E88G |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,720,526 (GRCm39) |
T134M |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,809 (GRCm39) |
Y81F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,847,560 (GRCm39) |
S43P |
probably benign |
Het |
| Sephs2 |
A |
T |
7: 126,872,118 (GRCm39) |
I325K |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,713,994 (GRCm39) |
N750K |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,001,897 (GRCm39) |
M519K |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,072,152 (GRCm39) |
E273G |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,480 (GRCm39) |
S724F |
unknown |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
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 |
|
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'- AGAAAGGCGAAGTCCTGCTC -3'
(R):5'- AATCCTTAGCACCGCTCTG -3'
Sequencing Primer
(F):5'- CTCGAACGCGTAGGTCTGGAAG -3'
(R):5'- CGCTCTGCATCACTGAAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation