Incidental Mutation 'R1540:Pcdh1'
| ID |
171696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh1
|
| Ensembl Gene |
ENSMUSG00000051375 |
| Gene Name |
protocadherin 1 |
| Synonyms |
2010005A06Rik |
| MMRRC Submission |
039579-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R1540 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38322779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1018
(N1018S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160721]
[ENSMUST00000161701]
|
| AlphaFold |
Q8CFX3 |
| 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: N1018S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: N1018S
| 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 |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
96% (72/75) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,574,384 (GRCm39) |
C767R |
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,551,775 (GRCm39) |
I644N |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,402 (GRCm39) |
I131V |
probably benign |
Het |
| Atp6v0a2 |
C |
A |
5: 124,784,638 (GRCm39) |
A307D |
probably damaging |
Het |
| C1qtnf1 |
C |
T |
11: 118,338,749 (GRCm39) |
H140Y |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,347,865 (GRCm39) |
D741V |
probably damaging |
Het |
| Caprin2 |
T |
A |
6: 148,777,969 (GRCm39) |
T211S |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,283,037 (GRCm39) |
E89G |
possibly damaging |
Het |
| Casz1 |
T |
A |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,378,589 (GRCm39) |
R30Q |
probably benign |
Het |
| Ccdc102a |
A |
T |
8: 95,634,341 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
G |
T |
8: 46,395,362 (GRCm39) |
E418* |
probably null |
Het |
| Ccdc90b |
C |
T |
7: 92,231,024 (GRCm39) |
A210V |
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,823,532 (GRCm39) |
A320E |
probably damaging |
Het |
| Cdadc1 |
T |
A |
14: 59,823,541 (GRCm39) |
Q317L |
probably damaging |
Het |
| Cep170 |
C |
A |
1: 176,567,498 (GRCm39) |
W1396L |
probably damaging |
Het |
| Col4a6 |
T |
C |
X: 140,010,854 (GRCm39) |
T129A |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,954,141 (GRCm39) |
D319N |
probably benign |
Het |
| Dclk1 |
T |
C |
3: 55,385,244 (GRCm39) |
S45P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,999,726 (GRCm39) |
I5581T |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,412 (GRCm39) |
I388V |
probably benign |
Het |
| Fbxl5 |
A |
T |
5: 43,915,978 (GRCm39) |
V435E |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,064,582 (GRCm39) |
M887K |
possibly damaging |
Het |
| Glt8d1 |
G |
A |
14: 30,733,549 (GRCm39) |
V345I |
probably benign |
Het |
| Gm5709 |
T |
C |
3: 59,526,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hsp90b1 |
A |
G |
10: 86,529,906 (GRCm39) |
F264L |
probably damaging |
Het |
| Id3 |
A |
G |
4: 135,871,250 (GRCm39) |
S21G |
possibly damaging |
Het |
| Ighe |
T |
A |
12: 113,235,066 (GRCm39) |
N365Y |
unknown |
Het |
| Il17rd |
T |
G |
14: 26,821,915 (GRCm39) |
M403R |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,249,365 (GRCm39) |
|
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,352,743 (GRCm39) |
|
probably null |
Het |
| Kctd19 |
A |
G |
8: 106,114,511 (GRCm39) |
S517P |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,821,944 (GRCm39) |
F2964L |
probably benign |
Het |
| Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,990 (GRCm39) |
K405R |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,809,686 (GRCm39) |
M452K |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,273 (GRCm39) |
L677P |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,541,558 (GRCm39) |
F221I |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,820 (GRCm39) |
V146M |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,772 (GRCm39) |
C895* |
probably null |
Het |
| Nod1 |
T |
C |
6: 54,920,960 (GRCm39) |
T453A |
probably benign |
Het |
| Nodal |
T |
C |
10: 61,258,764 (GRCm39) |
V67A |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,184,440 (GRCm39) |
L381P |
probably damaging |
Het |
| Or13c25 |
T |
C |
4: 52,910,996 (GRCm39) |
D266G |
probably benign |
Het |
| Or2b2b |
T |
A |
13: 21,858,700 (GRCm39) |
Q138L |
probably benign |
Het |
| Or9e1 |
T |
A |
11: 58,732,477 (GRCm39) |
M179K |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,686 (GRCm39) |
K267M |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,974,703 (GRCm39) |
V406I |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,226,916 (GRCm39) |
T634I |
probably damaging |
Het |
| Psme2b |
T |
A |
11: 48,836,209 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
A |
G |
3: 100,967,970 (GRCm39) |
I541T |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,307,746 (GRCm39) |
V684A |
probably benign |
Het |
| Rbbp5 |
C |
T |
1: 132,422,020 (GRCm39) |
R307* |
probably null |
Het |
| Rcor1 |
T |
A |
12: 111,070,037 (GRCm39) |
|
probably benign |
Het |
| Rlbp1 |
C |
T |
7: 79,029,808 (GRCm39) |
A142T |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,560,305 (GRCm39) |
E581G |
probably null |
Het |
| Sars1 |
A |
T |
3: 108,340,461 (GRCm39) |
V155E |
probably benign |
Het |
| Sec31a |
G |
C |
5: 100,523,178 (GRCm39) |
P569A |
probably damaging |
Het |
| Selenof |
A |
T |
3: 144,300,685 (GRCm39) |
K111* |
probably null |
Het |
| Serpinb7 |
C |
T |
1: 107,355,998 (GRCm39) |
A7V |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,720,409 (GRCm39) |
I204N |
probably damaging |
Het |
| Spry4 |
T |
G |
18: 38,734,740 (GRCm39) |
|
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,328,751 (GRCm39) |
N261S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,804 (GRCm39) |
F192S |
probably benign |
Het |
| Tnr |
T |
A |
1: 159,677,675 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttll5 |
C |
T |
12: 85,938,982 (GRCm39) |
Q427* |
probably null |
Het |
| Vps45 |
C |
T |
3: 95,955,658 (GRCm39) |
A111T |
probably damaging |
Het |
| Zfp395 |
T |
C |
14: 65,630,523 (GRCm39) |
S358P |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,210,740 (GRCm39) |
V766A |
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 |
|
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 |
|
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'- AAGTGTGCTGCCCACTCTTGAC -3'
(R):5'- TCACTCTGACACATGCTGGATGCC -3'
Sequencing Primer
(F):5'- GTGGTCTTGAAGCCAGTACTCC -3'
(R):5'- TTCGTGCCTTACCAGGACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation