Incidental Mutation 'R3806:Pcdha2'
ID |
473894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha2
|
Ensembl Gene |
ENSMUSG00000104148 |
Gene Name |
protocadherin alpha 2 |
Synonyms |
|
MMRRC Submission |
040763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R3806 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 37074744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 792
(E792*)
|
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 null
Transcript: ENSMUST00000115662
AA Change: E792*
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148 AA Change: E792*
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 null
Transcript: ENSMUST00000195590
AA Change: E792*
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148 AA Change: E792*
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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 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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,004,410 (GRCm39) |
N108S |
probably benign |
Het |
Ankmy1 |
A |
G |
1: 92,811,480 (GRCm39) |
I636T |
possibly damaging |
Het |
Bbs9 |
T |
A |
9: 22,798,926 (GRCm39) |
D851E |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,227,598 (GRCm39) |
T62A |
possibly damaging |
Het |
Cfhr4 |
T |
A |
1: 139,680,773 (GRCm39) |
K248N |
probably damaging |
Het |
Clcnka |
T |
C |
4: 141,114,601 (GRCm39) |
E615G |
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cpxm2 |
C |
T |
7: 131,681,820 (GRCm39) |
M236I |
probably benign |
Het |
Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
Fam131a |
G |
A |
16: 20,514,608 (GRCm39) |
V70M |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fbxl15 |
G |
C |
19: 46,317,891 (GRCm39) |
R191P |
possibly damaging |
Het |
Fcrlb |
T |
C |
1: 170,735,183 (GRCm39) |
T315A |
probably benign |
Het |
Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
Gem |
C |
T |
4: 11,705,965 (GRCm39) |
Q18* |
probably null |
Het |
Hemk1 |
T |
A |
9: 107,214,229 (GRCm39) |
I68F |
probably damaging |
Het |
Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
Ighv5-17 |
C |
A |
12: 113,822,918 (GRCm39) |
A68S |
probably benign |
Het |
Ip6k3 |
T |
C |
17: 27,363,974 (GRCm39) |
H358R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
Kmt2a |
C |
T |
9: 44,731,653 (GRCm39) |
|
probably benign |
Het |
Krt16 |
G |
T |
11: 100,139,566 (GRCm39) |
R51S |
unknown |
Het |
Lamtor1 |
G |
A |
7: 101,560,552 (GRCm39) |
V156I |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Maco1 |
C |
T |
4: 134,557,891 (GRCm39) |
M207I |
probably benign |
Het |
Man1c1 |
A |
T |
4: 134,430,662 (GRCm39) |
L40Q |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,224,221 (GRCm39) |
N145S |
probably benign |
Het |
Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,367,471 (GRCm39) |
I2964T |
possibly damaging |
Het |
Naip2 |
T |
A |
13: 100,289,142 (GRCm39) |
Q1196L |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,532,505 (GRCm39) |
G1738S |
probably damaging |
Het |
Nlrp5 |
A |
G |
7: 23,104,271 (GRCm39) |
E44G |
probably benign |
Het |
Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
Or5d18 |
A |
G |
2: 87,864,911 (GRCm39) |
S191P |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,543,843 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
A |
G |
12: 81,996,911 (GRCm39) |
T936A |
possibly damaging |
Het |
Pofut2 |
T |
C |
10: 77,096,640 (GRCm39) |
Y122H |
probably damaging |
Het |
Psg16 |
A |
G |
7: 16,824,609 (GRCm39) |
E131G |
probably benign |
Het |
Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
Rab6a |
A |
G |
7: 100,257,431 (GRCm39) |
M1V |
probably null |
Het |
Ripk3 |
T |
C |
14: 56,023,725 (GRCm39) |
R29G |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
Ruvbl2 |
A |
G |
7: 45,071,614 (GRCm39) |
V423A |
possibly damaging |
Het |
Rxylt1 |
A |
T |
10: 121,917,514 (GRCm39) |
V333E |
possibly damaging |
Het |
Scgb2b18 |
T |
G |
7: 32,872,563 (GRCm39) |
M81L |
probably benign |
Het |
Slc24a2 |
A |
T |
4: 87,146,021 (GRCm39) |
L11H |
possibly damaging |
Het |
Slc4a1 |
T |
C |
11: 102,248,019 (GRCm39) |
E325G |
probably benign |
Het |
Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
Them6 |
A |
G |
15: 74,593,367 (GRCm39) |
D75G |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,773,029 (GRCm39) |
A417V |
unknown |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
C |
T |
17: 34,135,920 (GRCm39) |
|
probably benign |
Het |
Zfp235 |
A |
G |
7: 23,840,046 (GRCm39) |
D225G |
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 |
37,072,582 (GRCm39) |
missense |
probably benign |
0.02 |
R3815:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
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 |