Incidental Mutation 'R2261:Pcdh1'
ID |
243829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh1
|
Ensembl Gene |
ENSMUSG00000051375 |
Gene Name |
protocadherin 1 |
Synonyms |
2010005A06Rik |
MMRRC Submission |
040261-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R2261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38331710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 431
(L431H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057185]
[ENSMUST00000159405]
[ENSMUST00000160721]
[ENSMUST00000161701]
[ENSMUST00000193828]
[ENSMUST00000194312]
|
AlphaFold |
Q8CFX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057185
AA Change: L570H
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000055199 Gene: ENSMUSG00000051375 AA Change: L570H
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: ENSMUST00000159405
AA Change: L570H
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125309 Gene: ENSMUSG00000051375 AA Change: L570H
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 benign
Transcript: ENSMUST00000161701
AA Change: L431H
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125576 Gene: ENSMUSG00000051375 AA Change: L431H
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193828
|
SMART Domains |
Protein: ENSMUSP00000142328 Gene: ENSMUSG00000051375
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
48 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194312
|
Meta Mutation Damage Score |
0.4217 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,288 (GRCm39) |
M1384L |
probably benign |
Het |
Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
Arhgap31 |
T |
A |
16: 38,429,639 (GRCm39) |
Q412L |
probably damaging |
Het |
Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,347,961 (GRCm39) |
H709L |
probably benign |
Het |
Cacna1h |
T |
C |
17: 25,652,139 (GRCm39) |
T2A |
possibly damaging |
Het |
Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
Cfap69 |
C |
A |
5: 5,646,018 (GRCm39) |
V561F |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
Fam184a |
A |
G |
10: 53,523,666 (GRCm39) |
|
probably null |
Het |
Fanca |
A |
G |
8: 124,016,098 (GRCm39) |
|
probably null |
Het |
Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
Gbp2b |
G |
A |
3: 142,312,496 (GRCm39) |
S293N |
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
Gm12874 |
G |
A |
4: 122,487,533 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
T |
A |
16: 36,713,722 (GRCm39) |
F234L |
probably damaging |
Het |
Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
Grip1 |
G |
A |
10: 119,821,489 (GRCm39) |
V385M |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,934,715 (GRCm39) |
|
probably benign |
Het |
Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
Morc3 |
T |
A |
16: 93,650,109 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
Npy2r |
A |
G |
3: 82,448,346 (GRCm39) |
V30A |
possibly damaging |
Het |
Nsd2 |
A |
T |
5: 34,042,871 (GRCm39) |
Q1045L |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
Or5d40 |
T |
A |
2: 88,015,965 (GRCm39) |
I248N |
probably damaging |
Het |
Otub1 |
T |
A |
19: 7,176,861 (GRCm39) |
|
probably null |
Het |
Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,370,043 (GRCm39) |
E29K |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,184,603 (GRCm39) |
N1468S |
probably damaging |
Het |
Rnf111 |
T |
C |
9: 70,383,673 (GRCm39) |
S87G |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,048,394 (GRCm39) |
R260G |
possibly damaging |
Het |
Slk |
T |
C |
19: 47,625,791 (GRCm39) |
I1090T |
probably damaging |
Het |
Spr-ps1 |
G |
T |
6: 85,132,945 (GRCm39) |
|
noncoding transcript |
Het |
Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,915,796 (GRCm39) |
C814S |
probably damaging |
Het |
Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,826,053 (GRCm39) |
I200V |
probably benign |
Het |
Tmem184c |
T |
C |
8: 78,323,804 (GRCm39) |
T353A |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,323,672 (GRCm39) |
Y397H |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,140,773 (GRCm39) |
S1231P |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 37,988,528 (GRCm39) |
D2143E |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,464,090 (GRCm39) |
N248S |
probably benign |
Het |
Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably damaging |
Het |
Zmym2 |
G |
A |
14: 57,165,719 (GRCm39) |
E681K |
probably damaging |
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 |
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 |
R5351:Pcdh1
|
UTSW |
18 |
38,330,819 (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'- ATGGTGCCTGTGCCATTCTG -3'
(R):5'- TGACTCTGGCTCTAACGCAG -3'
Sequencing Primer
(F):5'- GCCTGTGCCATTCTGGATAACAAAG -3'
(R):5'- TAACGCAGAGCTAGTATACTCGCTG -3'
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Posted On |
2014-10-16 |