Incidental Mutation 'R7294:Cdh22'
| ID |
566604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh22
|
| Ensembl Gene |
ENSMUSG00000053166 |
| Gene Name |
cadherin 22 |
| Synonyms |
PB-cadherin |
| MMRRC Submission |
045399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R7294 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 164984013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 413
(V413G)
|
| 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: V413G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: V413G
| 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: 99.0%
|
| Validation Efficiency |
94% (49/52) |
| 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 |
|---|
| A2m |
T |
A |
6: 121,650,541 (GRCm39) |
Y1216* |
probably null |
Het |
| Abca17 |
G |
A |
17: 24,539,983 (GRCm39) |
T415M |
not run |
Het |
| Adam1a |
G |
T |
5: 121,658,068 (GRCm39) |
C408* |
probably null |
Het |
| Adamts9 |
G |
A |
6: 92,871,270 (GRCm39) |
T603M |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,370,301 (GRCm39) |
E179G |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,831 (GRCm39) |
T316A |
possibly damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,950 (GRCm39) |
I23M |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,619,917 (GRCm39) |
E1386D |
probably damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,986 (GRCm39) |
C587Y |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,225,256 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,885,168 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,756,005 (GRCm39) |
Y95N |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,782 (GRCm39) |
S178P |
possibly damaging |
Het |
| Fhod3 |
A |
G |
18: 25,266,037 (GRCm39) |
E1575G |
probably damaging |
Het |
| Gfpt2 |
C |
T |
11: 49,709,435 (GRCm39) |
R209* |
probably null |
Het |
| Heg1 |
T |
C |
16: 33,546,859 (GRCm39) |
S573P |
probably damaging |
Het |
| Hinfp |
A |
G |
9: 44,210,567 (GRCm39) |
C152R |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,211 (GRCm39) |
T38I |
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,274,804 (GRCm39) |
F441L |
possibly damaging |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Kpna4 |
A |
C |
3: 68,999,956 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,022,848 (GRCm39) |
I456F |
possibly damaging |
Het |
| Leprotl1 |
A |
T |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,835 (GRCm39) |
T42S |
possibly damaging |
Het |
| Naa80 |
T |
G |
9: 107,460,182 (GRCm39) |
F26V |
possibly damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,852,578 (GRCm39) |
T419A |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or4c12 |
A |
C |
2: 89,774,068 (GRCm39) |
Y130* |
probably null |
Het |
| Or52b3 |
T |
A |
7: 102,204,160 (GRCm39) |
I223N |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,515,246 (GRCm39) |
C66* |
probably null |
Het |
| Pde10a |
A |
T |
17: 8,975,853 (GRCm39) |
N53Y |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,342,312 (GRCm39) |
N711S |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Slc26a1 |
G |
T |
5: 108,821,698 (GRCm39) |
R80S |
possibly damaging |
Het |
| Slc2a4 |
T |
C |
11: 69,836,225 (GRCm39) |
D262G |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,163 (GRCm39) |
S226R |
probably benign |
Het |
| Srsf4 |
A |
G |
4: 131,627,772 (GRCm39) |
S289G |
unknown |
Het |
| Stil |
T |
C |
4: 114,864,480 (GRCm39) |
V127A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,047,483 (GRCm39) |
|
probably null |
Het |
| Tbc1d22a |
T |
A |
15: 86,196,036 (GRCm39) |
Y336N |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,445,843 (GRCm39) |
G116E |
probably damaging |
Het |
| Thrb |
A |
G |
14: 17,826,963 (GRCm38) |
|
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,439 (GRCm39) |
I182K |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,534,399 (GRCm39) |
H2253Q |
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,893,928 (GRCm39) |
N158K |
possibly damaging |
Het |
| Toporsl |
A |
C |
4: 52,611,903 (GRCm39) |
T599P |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,858,176 (GRCm39) |
A1259V |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,395,411 (GRCm39) |
I392T |
possibly 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 |
|
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'- CCTGTCTTGCTTGGAACTGC -3'
(R):5'- CAGCACCTGGACTTTGAGTC -3'
Sequencing Primer
(F):5'- GCTTGGAACTGCTTCCTCTCTG -3'
(R):5'- ACTTTGAGTCGCAGCAGGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation