Incidental Mutation 'R8132:Pcdha5'
| ID |
632093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha5
|
| Ensembl Gene |
ENSMUSG00000103092 |
| Gene Name |
protocadherin alpha 5 |
| Synonyms |
Cnr6, Crnr6 |
| MMRRC Submission |
067895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R8132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37093694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 68
(S68P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000192168
AA Change: S68P
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: S68P
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Abhd16b |
G |
A |
2: 181,135,760 (GRCm39) |
A221T |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,607,087 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,619,174 (GRCm39) |
Q472* |
probably null |
Het |
| Calr3 |
C |
T |
8: 73,181,023 (GRCm39) |
G298S |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,133,718 (GRCm39) |
T15A |
unknown |
Het |
| CK137956 |
T |
A |
4: 127,845,075 (GRCm39) |
K223* |
probably null |
Het |
| Clca3b |
A |
T |
3: 144,552,935 (GRCm39) |
S97T |
probably benign |
Het |
| Cops7b |
G |
T |
1: 86,514,916 (GRCm39) |
G102V |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,748,072 (GRCm39) |
S382C |
probably damaging |
Het |
| Fdps |
G |
A |
3: 89,006,693 (GRCm39) |
Q66* |
probably null |
Het |
| Gemin4 |
T |
C |
11: 76,103,739 (GRCm39) |
T341A |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,109,355 (GRCm39) |
S201P |
unknown |
Het |
| Hgf |
C |
T |
5: 16,807,329 (GRCm39) |
T407I |
probably damaging |
Het |
| Hip1r |
C |
T |
5: 124,135,290 (GRCm39) |
R446C |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,740,827 (GRCm39) |
I327L |
possibly damaging |
Het |
| Ifna15 |
T |
C |
4: 88,475,920 (GRCm39) |
E188G |
possibly damaging |
Het |
| Igip |
A |
G |
18: 36,434,266 (GRCm39) |
S11G |
probably benign |
Het |
| Igkv5-39 |
A |
G |
6: 69,877,589 (GRCm39) |
Y56H |
probably damaging |
Het |
| Jph1 |
G |
A |
1: 17,086,379 (GRCm39) |
T381I |
probably damaging |
Het |
| Lrrc55 |
T |
C |
2: 85,022,259 (GRCm39) |
I311V |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 146,949,661 (GRCm39) |
D58E |
probably benign |
Het |
| Ms4a4d |
C |
A |
19: 11,535,310 (GRCm39) |
P203T |
probably benign |
Het |
| Naip1 |
T |
G |
13: 100,573,883 (GRCm39) |
E225D |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,407,967 (GRCm39) |
I989N |
possibly damaging |
Het |
| Nek3 |
A |
T |
8: 22,647,036 (GRCm39) |
Y166* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,181,478 (GRCm39) |
E1169G |
probably benign |
Het |
| Nudt15 |
G |
A |
14: 73,759,099 (GRCm39) |
P123L |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,522,207 (GRCm39) |
E179V |
probably damaging |
Het |
| Or10q1b |
G |
A |
19: 13,682,584 (GRCm39) |
C131Y |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,907 (GRCm39) |
I288V |
possibly damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,737 (GRCm39) |
S238T |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,369 (GRCm39) |
V69M |
probably benign |
Het |
| Plec |
G |
T |
15: 76,074,773 (GRCm39) |
A330E |
unknown |
Het |
| Rpa3 |
A |
C |
6: 8,256,790 (GRCm39) |
I63S |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Snap25 |
A |
T |
2: 136,611,748 (GRCm39) |
K83N |
probably benign |
Het |
| Sos1 |
T |
G |
17: 80,716,031 (GRCm39) |
Q977P |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,420,461 (GRCm39) |
Y483C |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,399,639 (GRCm39) |
E2362G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,855,084 (GRCm39) |
D128G |
probably damaging |
Het |
| Syngap1 |
G |
A |
17: 27,177,154 (GRCm39) |
M545I |
probably damaging |
Het |
| Tdpoz6 |
G |
A |
3: 93,599,452 (GRCm39) |
Q306* |
probably null |
Het |
| Tmem147 |
T |
C |
7: 30,427,872 (GRCm39) |
E110G |
probably damaging |
Het |
| Tmem156 |
T |
A |
5: 65,233,098 (GRCm39) |
I155F |
probably benign |
Het |
| Trim25 |
C |
A |
11: 88,907,432 (GRCm39) |
A597E |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,413,131 (GRCm39) |
Y229C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,558,154 (GRCm39) |
Q1435L |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,350,955 (GRCm39) |
S23P |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,879,142 (GRCm39) |
I1075F |
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 |
|
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'- GGTGCTGCAATAGAGACTGG -3'
(R):5'- CAGGTCGTGAGAATTTAGGCG -3'
Sequencing Primer
(F):5'- CAAGATTGCGATGGTATATTTCCAGC -3'
(R):5'- GGGTTGTCGTTAATGTCCTTCACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation