Incidental Mutation 'R7515:Pcdha5'
ID |
582425 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha5
|
Ensembl Gene |
ENSMUSG00000103092 |
Gene Name |
protocadherin alpha 5 |
Synonyms |
Cnr6, Crnr6 |
MMRRC Submission |
045588-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
R7515 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37095171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 560
(D560V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142293
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y15 |
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: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-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 damaging
Transcript: ENSMUST00000192168
AA Change: D560V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092 AA Change: D560V
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.2e-2 |
SMART |
CA
|
155 |
240 |
2.05e-21 |
SMART |
CA
|
264 |
348 |
8.81e-21 |
SMART |
CA
|
372 |
453 |
2.01e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
591 |
673 |
1.63e-15 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
SMART Domains |
Protein: ENSMUSP00000142103 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
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: ENSMUST00000192512
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
low complexity region
|
915 |
939 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
A |
T |
11: 5,578,905 (GRCm39) |
E56D |
possibly damaging |
Het |
Ankrd44 |
T |
C |
1: 54,805,514 (GRCm39) |
Y182C |
probably damaging |
Het |
Anxa3 |
A |
T |
5: 96,986,179 (GRCm39) |
N273Y |
probably damaging |
Het |
Apobec2 |
T |
C |
17: 48,730,015 (GRCm39) |
E217G |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 102,993,882 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
G |
12: 21,279,240 (GRCm39) |
H374R |
possibly damaging |
Het |
Camsap2 |
T |
C |
1: 136,273,108 (GRCm39) |
D23G |
probably damaging |
Het |
Ccr2 |
T |
C |
9: 123,906,197 (GRCm39) |
V159A |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,884,645 (GRCm39) |
D614E |
unknown |
Het |
Crb2 |
G |
A |
2: 37,673,412 (GRCm39) |
G103R |
probably damaging |
Het |
Cyp2b9 |
A |
G |
7: 25,898,596 (GRCm39) |
Y317C |
probably damaging |
Het |
Dhx36 |
A |
G |
3: 62,379,508 (GRCm39) |
V860A |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,672,815 (GRCm39) |
D553G |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,496,450 (GRCm39) |
S112P |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,732,240 (GRCm39) |
F4222S |
probably benign |
Het |
Ei24 |
T |
C |
9: 36,701,211 (GRCm39) |
D36G |
probably damaging |
Het |
Etv3 |
G |
T |
3: 87,435,363 (GRCm39) |
R78L |
possibly damaging |
Het |
Fbxo34 |
T |
C |
14: 47,767,798 (GRCm39) |
L437P |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,970 (GRCm39) |
D133G |
possibly damaging |
Het |
Gabra1 |
T |
A |
11: 42,045,660 (GRCm39) |
D150V |
possibly damaging |
Het |
Gpr158 |
T |
C |
2: 21,373,092 (GRCm39) |
L9P |
probably damaging |
Het |
H2-M10.3 |
G |
A |
17: 36,677,435 (GRCm39) |
T281I |
probably damaging |
Het |
Il18r1 |
T |
C |
1: 40,537,830 (GRCm39) |
S532P |
not run |
Het |
Itpr2 |
T |
C |
6: 146,228,608 (GRCm39) |
D1329G |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,704,191 (GRCm39) |
N384K |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,662,290 (GRCm39) |
V255A |
possibly damaging |
Het |
Kifc1 |
A |
G |
17: 34,103,777 (GRCm39) |
L182P |
probably damaging |
Het |
Lgals8 |
G |
A |
13: 12,463,343 (GRCm39) |
R198* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 65,912,310 (GRCm39) |
M1750K |
probably benign |
Het |
Lrsam1 |
A |
G |
2: 32,830,251 (GRCm39) |
|
probably null |
Het |
Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,626,499 (GRCm39) |
H366N |
probably benign |
Het |
Mif4gd |
A |
G |
11: 115,499,222 (GRCm39) |
V220A |
possibly damaging |
Het |
Mtmr12 |
T |
A |
15: 12,270,037 (GRCm39) |
F708L |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,550,958 (GRCm39) |
W5112R |
probably benign |
Het |
Ndrg2 |
A |
G |
14: 52,146,380 (GRCm39) |
I140T |
probably benign |
Het |
Nid2 |
C |
A |
14: 19,841,635 (GRCm39) |
Q887K |
probably benign |
Het |
Nop16 |
A |
T |
13: 54,737,550 (GRCm39) |
S48T |
possibly damaging |
Het |
Nrap |
G |
A |
19: 56,354,859 (GRCm39) |
T489I |
possibly damaging |
Het |
Oas1e |
C |
T |
5: 120,929,951 (GRCm39) |
G189D |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,250 (GRCm39) |
Y58H |
possibly damaging |
Het |
Or7g34 |
A |
T |
9: 19,477,949 (GRCm39) |
C244S |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phldb2 |
C |
T |
16: 45,594,603 (GRCm39) |
D901N |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 123,212,035 (GRCm39) |
H2058R |
|
Het |
Ptgis |
T |
A |
2: 167,048,758 (GRCm39) |
K419N |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,022,266 (GRCm39) |
F1714L |
probably damaging |
Het |
Rasa2 |
T |
C |
9: 96,434,353 (GRCm39) |
|
probably null |
Het |
Recql |
C |
T |
6: 142,320,611 (GRCm39) |
D146N |
probably damaging |
Het |
Rnf6 |
T |
G |
5: 146,148,602 (GRCm39) |
S139R |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,067,631 (GRCm39) |
S1301P |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
Setd5 |
T |
A |
6: 113,087,850 (GRCm39) |
I137N |
probably damaging |
Het |
Sf3b6 |
G |
A |
12: 4,870,619 (GRCm39) |
R19Q |
probably damaging |
Het |
Slc15a5 |
T |
A |
6: 138,020,496 (GRCm39) |
H279L |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,681,711 (GRCm39) |
T175A |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,470,820 (GRCm39) |
N36I |
probably damaging |
Het |
Supv3l1 |
A |
C |
10: 62,268,090 (GRCm39) |
F585C |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,632,507 (GRCm39) |
V1070L |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,315,846 (GRCm39) |
M658L |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,546,349 (GRCm39) |
D150G |
unknown |
Het |
Zfp607b |
T |
C |
7: 27,402,921 (GRCm39) |
V459A |
probably benign |
Het |
Zfp653 |
T |
C |
9: 21,982,427 (GRCm39) |
R71G |
probably damaging |
Het |
|
Other mutations in Pcdha5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
tarantula
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
R2483:Pcdha5
|
UTSW |
18 |
37,094,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R2483:Pcdha5
|
UTSW |
18 |
37,094,542 (GRCm39) |
missense |
probably benign |
|
R2888:Pcdha5
|
UTSW |
18 |
37,094,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:Pcdha5
|
UTSW |
18 |
37,093,868 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2981:Pcdha5
|
UTSW |
18 |
37,094,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R4468:Pcdha5
|
UTSW |
18 |
37,095,233 (GRCm39) |
missense |
probably benign |
0.08 |
R4724:Pcdha5
|
UTSW |
18 |
37,094,549 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5280:Pcdha5
|
UTSW |
18 |
37,094,755 (GRCm39) |
nonsense |
probably null |
|
R5412:Pcdha5
|
UTSW |
18 |
37,095,510 (GRCm39) |
missense |
probably benign |
0.29 |
R5731:Pcdha5
|
UTSW |
18 |
37,093,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Pcdha5
|
UTSW |
18 |
37,095,534 (GRCm39) |
missense |
probably benign |
0.00 |
R5865:Pcdha5
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
R5984:Pcdha5
|
UTSW |
18 |
37,094,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6498:Pcdha5
|
UTSW |
18 |
37,095,768 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6719:Pcdha5
|
UTSW |
18 |
37,093,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Pcdha5
|
UTSW |
18 |
37,094,615 (GRCm39) |
missense |
probably benign |
0.08 |
R7113:Pcdha5
|
UTSW |
18 |
37,094,757 (GRCm39) |
missense |
probably benign |
|
R7432:Pcdha5
|
UTSW |
18 |
37,095,379 (GRCm39) |
missense |
probably benign |
0.07 |
R7507:Pcdha5
|
UTSW |
18 |
37,093,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7642:Pcdha5
|
UTSW |
18 |
37,093,544 (GRCm39) |
missense |
probably benign |
0.00 |
R7815:Pcdha5
|
UTSW |
18 |
37,094,556 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8129:Pcdha5
|
UTSW |
18 |
37,094,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Pcdha5
|
UTSW |
18 |
37,093,694 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8139:Pcdha5
|
UTSW |
18 |
37,095,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8469:Pcdha5
|
UTSW |
18 |
37,094,798 (GRCm39) |
missense |
probably benign |
0.02 |
R9533:Pcdha5
|
UTSW |
18 |
37,093,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R9700:Pcdha5
|
UTSW |
18 |
37,094,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCTGATGCACAGGAGAAC -3'
(R):5'- GATCTCACCAGTGTATAGCCCC -3'
Sequencing Primer
(F):5'- AACGCGCTGGTGTCCTACTC -3'
(R):5'- TGTATAGCCCCACGCGGAAC -3'
|
Posted On |
2019-10-17 |