Incidental Mutation 'R3815:Pcdha2'
ID |
473843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha2
|
Ensembl Gene |
ENSMUSG00000104148 |
Gene Name |
protocadherin alpha 2 |
Synonyms |
|
MMRRC Submission |
040770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R3815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37074748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 793
(Y793C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y17 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
AA Change: Y793C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148 AA Change: Y793C
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
3.78e-2 |
SMART |
CA
|
152 |
237 |
8.94e-22 |
SMART |
CA
|
261 |
345 |
3.74e-24 |
SMART |
CA
|
369 |
450 |
1.09e-25 |
SMART |
CA
|
474 |
560 |
1.42e-24 |
SMART |
CA
|
588 |
670 |
2.96e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
AA Change: Y793C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148 AA Change: Y793C
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
100% (55/55) |
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 protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pcdha2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03052:Pcdha2
|
UTSW |
18 |
37,074,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R3157:Pcdha2
|
UTSW |
18 |
37,073,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Pcdha2
|
UTSW |
18 |
37,074,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Pcdha2
|
UTSW |
18 |
37,074,744 (GRCm39) |
nonsense |
probably null |
|
R3806:Pcdha2
|
UTSW |
18 |
37,072,582 (GRCm39) |
missense |
probably benign |
0.02 |
R3816:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
R3937:Pcdha2
|
UTSW |
18 |
37,074,376 (GRCm39) |
missense |
probably benign |
0.42 |
R3970:Pcdha2
|
UTSW |
18 |
37,073,750 (GRCm39) |
nonsense |
probably null |
|
R4058:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
R4059:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
R4179:Pcdha2
|
UTSW |
18 |
37,074,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R4457:Pcdha2
|
UTSW |
18 |
37,073,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Pcdha2
|
UTSW |
18 |
37,073,568 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4812:Pcdha2
|
UTSW |
18 |
37,072,861 (GRCm39) |
missense |
probably benign |
|
R4884:Pcdha2
|
UTSW |
18 |
37,073,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R5130:Pcdha2
|
UTSW |
18 |
37,073,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Pcdha2
|
UTSW |
18 |
37,073,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Pcdha2
|
UTSW |
18 |
37,072,915 (GRCm39) |
missense |
probably benign |
0.14 |
R5460:Pcdha2
|
UTSW |
18 |
37,072,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Pcdha2
|
UTSW |
18 |
37,072,562 (GRCm39) |
missense |
probably damaging |
0.98 |
R5946:Pcdha2
|
UTSW |
18 |
37,074,159 (GRCm39) |
missense |
probably damaging |
0.96 |
R6054:Pcdha2
|
UTSW |
18 |
37,073,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Pcdha2
|
UTSW |
18 |
37,072,438 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7465:Pcdha2
|
UTSW |
18 |
37,073,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Pcdha2
|
UTSW |
18 |
37,073,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R7774:Pcdha2
|
UTSW |
18 |
37,074,579 (GRCm39) |
missense |
probably benign |
|
R7953:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
R8043:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
R8048:Pcdha2
|
UTSW |
18 |
37,072,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Pcdha2
|
UTSW |
18 |
37,073,316 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8414:Pcdha2
|
UTSW |
18 |
37,074,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Pcdha2
|
UTSW |
18 |
37,074,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R8998:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8999:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9197:Pcdha2
|
UTSW |
18 |
37,072,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Pcdha2
|
UTSW |
18 |
37,073,546 (GRCm39) |
missense |
probably benign |
0.07 |
R9781:Pcdha2
|
UTSW |
18 |
37,074,102 (GRCm39) |
missense |
probably benign |
0.09 |
Z1088:Pcdha2
|
UTSW |
18 |
37,074,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |