Incidental Mutation 'R7941:Pcdh1'
| ID |
649075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh1
|
| Ensembl Gene |
ENSMUSG00000051375 |
| Gene Name |
protocadherin 1 |
| Synonyms |
2010005A06Rik |
| MMRRC Submission |
045987-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R7941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38332133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057185]
[ENSMUST00000159405]
[ENSMUST00000160721]
[ENSMUST00000161701]
[ENSMUST00000193828]
[ENSMUST00000194312]
|
| AlphaFold |
Q8CFX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057185
AA Change: D429G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055199
Gene: ENSMUSG00000051375
AA Change: D429G
| 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: D429G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125309
Gene: ENSMUSG00000051375
AA Change: D429G
| 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: D290G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: D290G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,579,691 (GRCm39) |
|
probably benign |
Het |
| AI467606 |
A |
G |
7: 126,691,593 (GRCm39) |
E56G |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,285,133 (GRCm39) |
P1403S |
unknown |
Het |
| Akr1c14 |
A |
G |
13: 4,109,713 (GRCm39) |
K28E |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Anks1b |
A |
T |
10: 90,413,017 (GRCm39) |
N55I |
probably damaging |
Het |
| Cabyr |
T |
C |
18: 12,877,825 (GRCm39) |
L54P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,845,370 (GRCm39) |
N954I |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,910,772 (GRCm39) |
I131L |
probably damaging |
Het |
| Cluh |
A |
T |
11: 74,550,583 (GRCm39) |
M270L |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,248,867 (GRCm39) |
H29R |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,964 (GRCm39) |
N202S |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,947,612 (GRCm39) |
I110T |
possibly damaging |
Het |
| Fam222b |
G |
T |
11: 78,045,885 (GRCm39) |
G482V |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,543,699 (GRCm39) |
L316P |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,424,929 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
T |
C |
17: 34,218,305 (GRCm39) |
T204A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,835 (GRCm39) |
V3296A |
possibly damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,299 (GRCm39) |
F203S |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,332,037 (GRCm39) |
D181V |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,901,631 (GRCm39) |
F69L |
probably damaging |
Het |
| Klf4 |
G |
A |
4: 55,531,755 (GRCm39) |
|
probably benign |
Het |
| Lsr |
T |
G |
7: 30,672,520 (GRCm39) |
I27L |
probably benign |
Het |
| Mettl4 |
A |
T |
17: 95,040,622 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,200,987 (GRCm39) |
V1902A |
probably benign |
Het |
| Nfkbiz |
C |
T |
16: 55,642,307 (GRCm39) |
G37D |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,248 (GRCm39) |
V31A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,642,663 (GRCm39) |
|
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,785,887 (GRCm39) |
V131D |
probably benign |
Het |
| Prelid2 |
A |
T |
18: 42,065,816 (GRCm39) |
L73* |
probably null |
Het |
| Psg20 |
T |
A |
7: 18,415,102 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab24 |
C |
T |
13: 55,468,120 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
G |
2: 101,472,691 (GRCm39) |
K817T |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,150,713 (GRCm39) |
V57A |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,510,659 (GRCm39) |
M80T |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,842,883 (GRCm39) |
I283T |
probably damaging |
Het |
| Skint2 |
C |
A |
4: 112,483,187 (GRCm39) |
N197K |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,266,730 (GRCm39) |
I126T |
probably damaging |
Het |
| Srcap |
GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
7: 127,157,462 (GRCm39) |
|
probably benign |
Het |
| Svip |
T |
C |
7: 51,653,161 (GRCm39) |
K51R |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,741,708 (GRCm39) |
V98E |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,517 (GRCm39) |
M297K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,749,694 (GRCm39) |
V3785A |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,035,924 (GRCm39) |
S135P |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,306 (GRCm39) |
M548K |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,405,099 (GRCm39) |
S748P |
possibly damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,579,409 (GRCm39) |
Y661C |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
probably benign |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,599 (GRCm39) |
I212V |
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 |
|
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 |
|
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'- CCACTTCACCAGGCTTGTTG -3'
(R):5'- CATAGGGCTGGTGACTCATCAAG -3'
Sequencing Primer
(F):5'- GCAACTTCAGTGATGCTCTG -3'
(R):5'- TCAAGACGGAATGGCTAACATATC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation