Incidental Mutation 'R8139:Pcdha5'
ID |
632448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha5
|
Ensembl Gene |
ENSMUSG00000103092 |
Gene Name |
protocadherin alpha 5 |
Synonyms |
Cnr6, Crnr6 |
MMRRC Submission |
067567-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
R8139 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37095791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 767
(M767V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142293
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194751]
[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 |
possibly damaging
Transcript: ENSMUST00000192168
AA Change: M767V
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092 AA Change: M767V
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: ENSMUST00000193389
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
low complexity region
|
914 |
938 |
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: ENSMUST00000194751
|
SMART Domains |
Protein: ENSMUSP00000142285 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
100% (84/84) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
T |
X: 69,438,120 (GRCm39) |
Q58K |
possibly damaging |
Het |
Aamdc |
T |
C |
7: 97,214,450 (GRCm39) |
M42V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,074,959 (GRCm39) |
Q1368L |
probably damaging |
Het |
Best3 |
G |
A |
10: 116,840,331 (GRCm39) |
G254R |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,602,697 (GRCm39) |
I1478N |
probably damaging |
Het |
Ccdc113 |
T |
A |
8: 96,285,366 (GRCm39) |
M350K |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,896,884 (GRCm39) |
H389L |
probably damaging |
Het |
Cnn3 |
G |
T |
3: 121,248,718 (GRCm39) |
M208I |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,698 (GRCm39) |
D345G |
unknown |
Het |
Degs1l |
A |
G |
1: 180,882,358 (GRCm39) |
D40G |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,582,853 (GRCm39) |
V3131F |
probably damaging |
Het |
Dst |
T |
A |
1: 34,230,933 (GRCm39) |
M2842K |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,074,058 (GRCm39) |
Q211* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,758,685 (GRCm39) |
F171S |
probably benign |
Het |
Elac2 |
T |
C |
11: 64,871,440 (GRCm39) |
I117T |
probably benign |
Het |
Fam13b |
A |
G |
18: 34,606,686 (GRCm39) |
C302R |
possibly damaging |
Het |
Fbxl5 |
G |
A |
5: 43,916,087 (GRCm39) |
Q442* |
probably null |
Het |
Fhdc1 |
A |
G |
3: 84,358,790 (GRCm39) |
S370P |
probably damaging |
Het |
Gtf3c6 |
T |
C |
10: 40,133,469 (GRCm39) |
|
probably null |
Het |
I830077J02Rik |
A |
G |
3: 105,835,314 (GRCm39) |
V21A |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,568,074 (GRCm39) |
E209* |
probably null |
Het |
Irag1 |
A |
G |
7: 110,498,879 (GRCm39) |
|
probably null |
Het |
Irs1 |
A |
T |
1: 82,267,460 (GRCm39) |
M252K |
probably damaging |
Het |
Kcng3 |
C |
A |
17: 83,938,516 (GRCm39) |
V178L |
probably damaging |
Het |
Kif16b |
A |
C |
2: 142,743,285 (GRCm39) |
S3A |
probably benign |
Het |
Kit |
T |
C |
5: 75,813,465 (GRCm39) |
M884T |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
C |
7: 15,857,901 (GRCm39) |
I243T |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,468,192 (GRCm39) |
E947K |
possibly damaging |
Het |
Lyl1 |
A |
T |
8: 85,429,476 (GRCm39) |
I62L |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,655,965 (GRCm39) |
R468* |
probably null |
Het |
Mtx2 |
G |
A |
2: 74,706,714 (GRCm39) |
D230N |
probably benign |
Het |
Ndufa5 |
A |
T |
6: 24,522,757 (GRCm39) |
Y28* |
probably null |
Het |
Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
Nrxn3 |
A |
G |
12: 90,171,438 (GRCm39) |
N923S |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,538 (GRCm39) |
T116M |
possibly damaging |
Het |
Oosp1 |
T |
C |
19: 11,645,118 (GRCm39) |
E182G |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,928,187 (GRCm39) |
V28A |
probably benign |
Het |
Or5p67 |
T |
A |
7: 107,922,113 (GRCm39) |
T257S |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,871 (GRCm39) |
I151F |
probably benign |
Het |
Or7g28 |
A |
C |
9: 19,272,504 (GRCm39) |
V49G |
probably damaging |
Het |
Oxnad1 |
C |
A |
14: 31,814,048 (GRCm39) |
T47K |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,604,309 (GRCm39) |
Q2224K |
probably benign |
Het |
Pgr |
A |
T |
9: 8,956,341 (GRCm39) |
H763L |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,058,510 (GRCm39) |
D3809G |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,074,430 (GRCm39) |
S155P |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,228,266 (GRCm39) |
V1090A |
probably benign |
Het |
Ptgdr |
T |
C |
14: 45,096,142 (GRCm39) |
E190G |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,665,189 (GRCm39) |
C173* |
probably null |
Het |
Rhobtb1 |
C |
A |
10: 69,102,120 (GRCm39) |
P134T |
probably damaging |
Het |
Slc25a36 |
A |
T |
9: 96,962,505 (GRCm39) |
F161L |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,869,199 (GRCm39) |
T596A |
probably benign |
Het |
Slco1a6 |
T |
C |
6: 142,035,626 (GRCm39) |
Y566C |
probably damaging |
Het |
Snx15 |
T |
G |
19: 6,169,945 (GRCm39) |
K321T |
probably damaging |
Het |
Snx15 |
T |
C |
19: 6,169,946 (GRCm39) |
K321E |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Syt8 |
T |
C |
7: 141,992,005 (GRCm39) |
I32T |
probably benign |
Het |
Thumpd1 |
T |
C |
7: 119,319,808 (GRCm39) |
N53D |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,263 (GRCm39) |
T54A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,391,091 (GRCm39) |
V149A |
probably damaging |
Het |
Tmem108 |
T |
A |
9: 103,377,084 (GRCm39) |
M122L |
probably benign |
Het |
Tram1l1 |
A |
G |
3: 124,115,436 (GRCm39) |
I199V |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,675,802 (GRCm39) |
N156S |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,072,785 (GRCm39) |
I111V |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,230,480 (GRCm39) |
V521A |
probably benign |
Het |
Vmn2r54 |
G |
T |
7: 12,349,743 (GRCm39) |
T613N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Vps33a |
T |
C |
5: 123,672,015 (GRCm39) |
K451R |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,113,153 (GRCm39) |
I35T |
probably benign |
Het |
Xpnpep3 |
T |
A |
15: 81,332,660 (GRCm39) |
L399Q |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,013 (GRCm39) |
E315G |
probably benign |
Het |
Zfp467 |
C |
T |
6: 48,416,268 (GRCm39) |
G128D |
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 |
R7515:Pcdha5
|
UTSW |
18 |
37,095,171 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACCCTGCTTCTGTACACAGC -3'
(R):5'- ACTGCAAGTCATATTCGGTGC -3'
Sequencing Primer
(F):5'- GCTTCTGTACACAGCGATTCG -3'
(R):5'- GTGTACCACGTACCTGTGAAATTC -3'
|
Posted On |
2020-06-30 |