Incidental Mutation 'R5160:Pcdha3'
ID |
396968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha3
|
Ensembl Gene |
ENSMUSG00000102312 |
Gene Name |
protocadherin alpha 3 |
Synonyms |
|
MMRRC Submission |
042742-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R5160 (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 37079480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
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 damaging
Transcript: ENSMUST00000192503
AA Change: V74A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312 AA Change: V74A
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: 98.6%
- 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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly damaging |
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 |
R4582:Pcdha3
|
UTSW |
18 |
37,080,485 (GRCm39) |
missense |
probably benign |
|
R4712:Pcdha3
|
UTSW |
18 |
37,079,560 (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'- GAGAGCAACCAAACATTCGG -3'
(R):5'- CTGGAAATACTGGAGGGTTGTC -3'
Sequencing Primer
(F):5'- TTCTCAGAGAGAAGATCGGCATCTG -3'
(R):5'- AGGGTTGTCGTTAATGTCCCTCAC -3'
|
Posted On |
2016-06-21 |