Incidental Mutation 'R2888:Pcdha5'
ID |
477023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha5
|
Ensembl Gene |
ENSMUSG00000103092 |
Gene Name |
protocadherin alpha 5 |
Synonyms |
Cnr6, Crnr6 |
MMRRC Submission |
040476-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
R2888 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37094940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 483
(D483G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142293
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000192512]
[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: D483G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092 AA Change: D483G
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: 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: 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: 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: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (39/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,187,668 (GRCm39) |
R176C |
probably damaging |
Het |
Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
Rtn4 |
T |
C |
11: 29,643,687 (GRCm39) |
S167P |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
Smoc2 |
T |
C |
17: 14,617,887 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
probably benign |
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 |
|
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 |
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 |
|
Posted On |
2017-05-15 |