Incidental Mutation 'R0542:Pcdh1'
ID |
50015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh1
|
Ensembl Gene |
ENSMUSG00000051375 |
Gene Name |
protocadherin 1 |
Synonyms |
2010005A06Rik |
MMRRC Submission |
038734-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R0542 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38322975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 953
(V953I)
|
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 damaging
Transcript: ENSMUST00000161701
AA Change: V953I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125576 Gene: ENSMUSG00000051375 AA Change: V953I
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 |
0.1472 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
99% (70/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
C |
A |
12: 70,210,269 (GRCm39) |
N71K |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,564,854 (GRCm39) |
I242T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,721,437 (GRCm39) |
S714P |
probably damaging |
Het |
Agap3 |
G |
A |
5: 24,705,184 (GRCm39) |
R704Q |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,622,509 (GRCm39) |
R448G |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,909,829 (GRCm39) |
|
probably benign |
Het |
Caml |
A |
T |
13: 55,770,974 (GRCm39) |
Q24L |
possibly damaging |
Het |
Cdc14b |
G |
A |
13: 64,391,497 (GRCm39) |
T124I |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,781,571 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,512,610 (GRCm39) |
|
probably null |
Het |
Crispld1 |
T |
C |
1: 17,816,992 (GRCm39) |
V183A |
possibly damaging |
Het |
Cstdc1 |
A |
G |
2: 148,624,092 (GRCm39) |
N22S |
probably benign |
Het |
Dhx40 |
C |
T |
11: 86,695,082 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,026,761 (GRCm39) |
D1956E |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,184,283 (GRCm39) |
V35A |
probably damaging |
Het |
Dync2i2 |
A |
G |
2: 29,921,837 (GRCm39) |
V508A |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,345,452 (GRCm39) |
|
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,615,048 (GRCm39) |
|
probably benign |
Het |
Gnaq |
T |
A |
19: 16,196,982 (GRCm39) |
I56N |
probably damaging |
Het |
Gpr139 |
T |
C |
7: 118,744,306 (GRCm39) |
D93G |
probably benign |
Het |
Hars1 |
C |
T |
18: 36,904,234 (GRCm39) |
R215H |
probably benign |
Het |
Helz2 |
C |
A |
2: 180,873,882 (GRCm39) |
W2204L |
probably damaging |
Het |
Ift70b |
A |
G |
2: 75,767,055 (GRCm39) |
V566A |
probably damaging |
Het |
Itgb6 |
A |
T |
2: 60,435,480 (GRCm39) |
C757S |
possibly damaging |
Het |
Kpnb1 |
G |
A |
11: 97,078,398 (GRCm39) |
T5I |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,454,035 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,860,546 (GRCm39) |
K175N |
possibly damaging |
Het |
Lrp2 |
A |
G |
2: 69,258,998 (GRCm39) |
I4564T |
probably benign |
Het |
Mblac1 |
A |
G |
5: 138,192,798 (GRCm39) |
T47A |
possibly damaging |
Het |
Med12l |
G |
A |
3: 58,949,822 (GRCm39) |
D182N |
probably damaging |
Het |
Megf9 |
A |
G |
4: 70,353,585 (GRCm39) |
I407T |
probably benign |
Het |
Mtmr6 |
A |
T |
14: 60,529,578 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,624,907 (GRCm39) |
T2173A |
probably benign |
Het |
Mzt1 |
A |
T |
14: 99,277,938 (GRCm39) |
|
probably benign |
Het |
Narf |
T |
C |
11: 121,143,690 (GRCm39) |
L444P |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,408,271 (GRCm39) |
Q1305L |
possibly damaging |
Het |
Ntsr1 |
A |
G |
2: 180,184,374 (GRCm39) |
Y359C |
probably damaging |
Het |
Olfm1 |
A |
G |
2: 28,104,640 (GRCm39) |
D159G |
possibly damaging |
Het |
Or2l13b |
A |
T |
16: 19,348,732 (GRCm39) |
*313R |
probably null |
Het |
Pcdhb11 |
A |
T |
18: 37,556,887 (GRCm39) |
D739V |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,769 (GRCm39) |
N280S |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,366,054 (GRCm39) |
|
probably null |
Het |
Pfkp |
G |
T |
13: 6,672,028 (GRCm39) |
C122* |
probably null |
Het |
Plxna4 |
G |
A |
6: 32,169,232 (GRCm39) |
R1322W |
probably damaging |
Het |
Ppox |
A |
G |
1: 171,106,818 (GRCm39) |
L202P |
probably damaging |
Het |
Ppp1r3e |
G |
A |
14: 55,114,588 (GRCm39) |
P58L |
probably benign |
Het |
Prr23a2 |
A |
C |
9: 98,739,086 (GRCm39) |
N148T |
probably benign |
Het |
Psd |
T |
C |
19: 46,302,649 (GRCm39) |
T842A |
probably damaging |
Het |
Ranbp2 |
C |
T |
10: 58,314,236 (GRCm39) |
A1652V |
probably benign |
Het |
Rragd |
G |
A |
4: 33,007,103 (GRCm39) |
V144M |
probably damaging |
Het |
Sema6a |
T |
G |
18: 47,381,643 (GRCm39) |
D968A |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,945,793 (GRCm39) |
|
probably null |
Het |
Snx17 |
G |
T |
5: 31,353,895 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,928,853 (GRCm39) |
M253K |
possibly damaging |
Het |
Syt14 |
G |
T |
1: 192,613,111 (GRCm39) |
T563K |
probably damaging |
Het |
Tada3 |
T |
C |
6: 113,352,175 (GRCm39) |
K85E |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,716,921 (GRCm39) |
V532A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,723,453 (GRCm39) |
C6426S |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 103,060,437 (GRCm39) |
|
probably benign |
Het |
Usp19 |
A |
G |
9: 108,371,584 (GRCm39) |
|
probably null |
Het |
Vav3 |
G |
A |
3: 109,434,746 (GRCm39) |
D426N |
probably damaging |
Het |
Vezt |
T |
C |
10: 93,842,958 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
T |
19: 27,213,655 (GRCm39) |
R114L |
probably benign |
Het |
Wwc2 |
C |
T |
8: 48,321,414 (GRCm39) |
V567I |
unknown |
Het |
Zfp423 |
T |
C |
8: 88,507,237 (GRCm39) |
T911A |
probably damaging |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
Zkscan16 |
A |
T |
4: 58,956,597 (GRCm39) |
H293L |
possibly damaging |
Het |
Zkscan6 |
A |
C |
11: 65,719,525 (GRCm39) |
N515T |
possibly damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
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 |
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 |
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'- TCACAGGTAGATCTCACGCTTGGC -3'
(R):5'- TCCTAGAGGGCAGCAGAATAGTGAC -3'
Sequencing Primer
(F):5'- CTACTGTGGGAGAAGGCACTG -3'
(R):5'- ATAGTGACAGCGGGCCAC -3'
|
Posted On |
2013-06-12 |