Incidental Mutation 'R5351:Pcdh1'
ID |
423818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh1
|
Ensembl Gene |
ENSMUSG00000051375 |
Gene Name |
protocadherin 1 |
Synonyms |
2010005A06Rik |
MMRRC Submission |
042930-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.330)
|
Stock # |
R5351 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38330819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 728
(G728D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057185]
[ENSMUST00000159405]
[ENSMUST00000160721]
[ENSMUST00000161701]
|
AlphaFold |
Q8CFX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057185
AA Change: G867D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055199 Gene: ENSMUSG00000051375 AA Change: G867D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
36 |
120 |
2e-8 |
PFAM |
CA
|
168 |
256 |
5.18e-18 |
SMART |
CA
|
280 |
363 |
5.68e-24 |
SMART |
CA
|
395 |
482 |
1.84e-23 |
SMART |
CA
|
506 |
588 |
2.99e-32 |
SMART |
CA
|
612 |
691 |
9.36e-25 |
SMART |
CA
|
717 |
798 |
9.9e-15 |
SMART |
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
low complexity region
|
876 |
903 |
N/A |
INTRINSIC |
low complexity region
|
951 |
964 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159405
AA Change: G867D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125309 Gene: ENSMUSG00000051375 AA Change: G867D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
36 |
120 |
2e-8 |
PFAM |
CA
|
168 |
256 |
5.18e-18 |
SMART |
CA
|
280 |
363 |
5.68e-24 |
SMART |
CA
|
395 |
482 |
1.84e-23 |
SMART |
CA
|
506 |
588 |
2.99e-32 |
SMART |
CA
|
612 |
691 |
9.36e-25 |
SMART |
CA
|
717 |
798 |
9.9e-15 |
SMART |
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
low complexity region
|
876 |
903 |
N/A |
INTRINSIC |
low complexity region
|
951 |
964 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160721
|
SMART Domains |
Protein: ENSMUSP00000124732 Gene: ENSMUSG00000051375
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
36 |
120 |
9.9e-10 |
PFAM |
CA
|
168 |
256 |
5.18e-18 |
SMART |
low complexity region
|
310 |
321 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161701
AA Change: G728D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125576 Gene: ENSMUSG00000051375 AA Change: G728D
Domain | Start | End | E-Value | Type |
CA
|
29 |
117 |
5.18e-18 |
SMART |
CA
|
141 |
224 |
5.68e-24 |
SMART |
CA
|
256 |
343 |
1.84e-23 |
SMART |
CA
|
367 |
449 |
2.99e-32 |
SMART |
CA
|
473 |
552 |
9.36e-25 |
SMART |
CA
|
578 |
659 |
9.9e-15 |
SMART |
transmembrane domain
|
691 |
713 |
N/A |
INTRINSIC |
low complexity region
|
737 |
764 |
N/A |
INTRINSIC |
low complexity region
|
812 |
825 |
N/A |
INTRINSIC |
low complexity region
|
903 |
914 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
low complexity region
|
1059 |
1071 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
probably benign |
Het |
|
Other mutations in Pcdh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00714:Pcdh1
|
APN |
18 |
38,331,782 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL00919:Pcdh1
|
APN |
18 |
38,335,865 (GRCm39) |
nonsense |
probably null |
|
IGL01744:Pcdh1
|
APN |
18 |
38,336,302 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4260001:Pcdh1
|
UTSW |
18 |
38,336,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R0542:Pcdh1
|
UTSW |
18 |
38,322,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R1449:Pcdh1
|
UTSW |
18 |
38,322,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R1540:Pcdh1
|
UTSW |
18 |
38,322,779 (GRCm39) |
missense |
probably benign |
0.01 |
R1642:Pcdh1
|
UTSW |
18 |
38,332,283 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1672:Pcdh1
|
UTSW |
18 |
38,325,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Pcdh1
|
UTSW |
18 |
38,335,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Pcdh1
|
UTSW |
18 |
38,336,085 (GRCm39) |
nonsense |
probably null |
|
R1781:Pcdh1
|
UTSW |
18 |
38,322,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Pcdh1
|
UTSW |
18 |
38,331,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:Pcdh1
|
UTSW |
18 |
38,332,538 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1843:Pcdh1
|
UTSW |
18 |
38,325,278 (GRCm39) |
splice site |
probably null |
|
R1882:Pcdh1
|
UTSW |
18 |
38,335,895 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2261:Pcdh1
|
UTSW |
18 |
38,331,710 (GRCm39) |
missense |
probably benign |
0.01 |
R2262:Pcdh1
|
UTSW |
18 |
38,331,710 (GRCm39) |
missense |
probably benign |
0.01 |
R2263:Pcdh1
|
UTSW |
18 |
38,331,710 (GRCm39) |
missense |
probably benign |
0.01 |
R2511:Pcdh1
|
UTSW |
18 |
38,332,532 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2937:Pcdh1
|
UTSW |
18 |
38,322,815 (GRCm39) |
missense |
probably benign |
0.40 |
R3941:Pcdh1
|
UTSW |
18 |
38,332,511 (GRCm39) |
missense |
probably benign |
0.02 |
R3942:Pcdh1
|
UTSW |
18 |
38,332,511 (GRCm39) |
missense |
probably benign |
0.02 |
R4057:Pcdh1
|
UTSW |
18 |
38,331,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R4155:Pcdh1
|
UTSW |
18 |
38,336,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R4169:Pcdh1
|
UTSW |
18 |
38,331,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Pcdh1
|
UTSW |
18 |
38,330,913 (GRCm39) |
missense |
probably benign |
0.00 |
R4690:Pcdh1
|
UTSW |
18 |
38,336,528 (GRCm39) |
missense |
probably benign |
0.33 |
R4825:Pcdh1
|
UTSW |
18 |
38,322,912 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5201:Pcdh1
|
UTSW |
18 |
38,331,971 (GRCm39) |
missense |
probably damaging |
0.98 |
R5266:Pcdh1
|
UTSW |
18 |
38,325,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R5267:Pcdh1
|
UTSW |
18 |
38,325,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Pcdh1
|
UTSW |
18 |
38,330,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Pcdh1
|
UTSW |
18 |
38,335,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5731:Pcdh1
|
UTSW |
18 |
38,331,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R6043:Pcdh1
|
UTSW |
18 |
38,336,327 (GRCm39) |
missense |
probably damaging |
0.97 |
R6278:Pcdh1
|
UTSW |
18 |
38,332,263 (GRCm39) |
missense |
probably benign |
0.29 |
R6333:Pcdh1
|
UTSW |
18 |
38,331,860 (GRCm39) |
missense |
probably benign |
0.25 |
R6498:Pcdh1
|
UTSW |
18 |
38,330,490 (GRCm39) |
missense |
probably benign |
0.18 |
R6937:Pcdh1
|
UTSW |
18 |
38,336,528 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6994:Pcdh1
|
UTSW |
18 |
38,331,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R7242:Pcdh1
|
UTSW |
18 |
38,336,270 (GRCm39) |
missense |
probably benign |
0.06 |
R7289:Pcdh1
|
UTSW |
18 |
38,322,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R7391:Pcdh1
|
UTSW |
18 |
38,335,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7702:Pcdh1
|
UTSW |
18 |
38,336,569 (GRCm39) |
missense |
unknown |
|
R7738:Pcdh1
|
UTSW |
18 |
38,330,529 (GRCm39) |
missense |
probably benign |
0.02 |
R7849:Pcdh1
|
UTSW |
18 |
38,322,662 (GRCm39) |
missense |
probably benign |
0.01 |
R7941:Pcdh1
|
UTSW |
18 |
38,332,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Pcdh1
|
UTSW |
18 |
38,332,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R8675:Pcdh1
|
UTSW |
18 |
38,332,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8851:Pcdh1
|
UTSW |
18 |
38,325,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8947:Pcdh1
|
UTSW |
18 |
38,332,073 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9443:Pcdh1
|
UTSW |
18 |
38,330,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Pcdh1
|
UTSW |
18 |
38,330,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R9608:Pcdh1
|
UTSW |
18 |
38,330,904 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0027:Pcdh1
|
UTSW |
18 |
38,322,841 (GRCm39) |
nonsense |
probably null |
|
Z1088:Pcdh1
|
UTSW |
18 |
38,331,120 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pcdh1
|
UTSW |
18 |
38,331,741 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATCGCTCATTAGGTTGAAC -3'
(R):5'- ACGTCAACGAGACCTTAGCC -3'
Sequencing Primer
(F):5'- AACTTGAGGGACTTCTGCAGC -3'
(R):5'- TAGAGACCCTCCTCGTCCATAG -3'
|
Posted On |
2016-08-04 |