Incidental Mutation 'R4582:Pcdha3'
ID |
343760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha3
|
Ensembl Gene |
ENSMUSG00000102312 |
Gene Name |
protocadherin alpha 3 |
Synonyms |
|
MMRRC Submission |
041803-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R4582 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37079158-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37080485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 409
(V409A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y16 |
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
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148
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
AA Change: V409A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312 AA Change: V409A
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
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148
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: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,343,465 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
Naglu |
A |
T |
11: 100,962,755 (GRCm39) |
I187F |
probably damaging |
Het |
Nt5c1b |
T |
A |
12: 10,440,054 (GRCm39) |
M548K |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,090 (GRCm39) |
I217N |
probably damaging |
Het |
Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
probably benign |
Het |
|
Other mutations in Pcdha3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R2497:Pcdha3
|
UTSW |
18 |
37,080,556 (GRCm39) |
missense |
probably benign |
|
R3702:Pcdha3
|
UTSW |
18 |
37,080,401 (GRCm39) |
missense |
probably benign |
0.16 |
R4090:Pcdha3
|
UTSW |
18 |
37,081,504 (GRCm39) |
missense |
probably benign |
0.04 |
R4273:Pcdha3
|
UTSW |
18 |
37,081,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Pcdha3
|
UTSW |
18 |
37,080,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R4535:Pcdha3
|
UTSW |
18 |
37,081,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R4712:Pcdha3
|
UTSW |
18 |
37,079,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R5160:Pcdha3
|
UTSW |
18 |
37,079,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R5302:Pcdha3
|
UTSW |
18 |
37,081,208 (GRCm39) |
missense |
probably damaging |
0.96 |
R5361:Pcdha3
|
UTSW |
18 |
37,079,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5535:Pcdha3
|
UTSW |
18 |
37,080,989 (GRCm39) |
missense |
probably benign |
0.02 |
R5682:Pcdha3
|
UTSW |
18 |
37,081,040 (GRCm39) |
missense |
probably damaging |
0.99 |
R6656:Pcdha3
|
UTSW |
18 |
37,080,875 (GRCm39) |
missense |
probably benign |
0.24 |
R6878:Pcdha3
|
UTSW |
18 |
37,080,416 (GRCm39) |
nonsense |
probably null |
|
R7150:Pcdha3
|
UTSW |
18 |
37,080,165 (GRCm39) |
missense |
probably benign |
0.01 |
R7167:Pcdha3
|
UTSW |
18 |
37,080,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R7299:Pcdha3
|
UTSW |
18 |
37,079,977 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7301:Pcdha3
|
UTSW |
18 |
37,079,977 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7448:Pcdha3
|
UTSW |
18 |
37,079,266 (GRCm39) |
missense |
probably benign |
0.00 |
R7467:Pcdha3
|
UTSW |
18 |
37,080,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Pcdha3
|
UTSW |
18 |
37,080,784 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7659:Pcdha3
|
UTSW |
18 |
37,081,219 (GRCm39) |
missense |
probably benign |
0.14 |
R7761:Pcdha3
|
UTSW |
18 |
37,079,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7782:Pcdha3
|
UTSW |
18 |
37,081,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R7939:Pcdha3
|
UTSW |
18 |
37,080,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8217:Pcdha3
|
UTSW |
18 |
37,079,974 (GRCm39) |
missense |
probably damaging |
0.99 |
R8440:Pcdha3
|
UTSW |
18 |
37,080,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Pcdha3
|
UTSW |
18 |
37,080,154 (GRCm39) |
missense |
probably benign |
0.43 |
R9375:Pcdha3
|
UTSW |
18 |
37,079,353 (GRCm39) |
missense |
probably benign |
0.29 |
R9378:Pcdha3
|
UTSW |
18 |
37,080,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R9546:Pcdha3
|
UTSW |
18 |
37,079,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACGTGCCTGAATTGGTCATC -3'
(R):5'- CTGACACCGTGAAGATGTGC -3'
Sequencing Primer
(F):5'- GCCTGAATTGGTCATCAAGTC -3'
(R):5'- TGAAGATGTGCGCGCCAG -3'
|
Posted On |
2015-09-24 |