Incidental Mutation 'R7242:Pcdh1'
| ID |
563320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh1
|
| Ensembl Gene |
ENSMUSG00000051375 |
| Gene Name |
protocadherin 1 |
| Synonyms |
2010005A06Rik |
| MMRRC Submission |
045349-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.330)
|
| Stock # |
R7242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38336270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 122
(V122M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055199
(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: V122M
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055199
Gene: ENSMUSG00000051375
AA Change: V122M
| 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: V122M
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125309
Gene: ENSMUSG00000051375
AA Change: V122M
| 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
AA Change: V122M
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124732
Gene: ENSMUSG00000051375
AA Change: V122M
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
| 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 |
0.0673 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,132,479 (GRCm39) |
V272D |
possibly damaging |
Het |
| Acot11 |
A |
T |
4: 106,619,690 (GRCm39) |
S163R |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 34,977,205 (GRCm39) |
L246P |
probably damaging |
Het |
| Adgra1 |
A |
T |
7: 139,427,573 (GRCm39) |
|
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,612,055 (GRCm39) |
T1335A |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,062 (GRCm39) |
Y354F |
probably damaging |
Het |
| Armt1 |
T |
C |
10: 4,403,475 (GRCm39) |
S187P |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,501,749 (GRCm39) |
M1V |
probably null |
Het |
| B430305J03Rik |
C |
T |
3: 61,271,256 (GRCm39) |
C163Y |
unknown |
Het |
| Cables1 |
T |
C |
18: 11,973,064 (GRCm39) |
S68P |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,663 (GRCm39) |
F341L |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,670,772 (GRCm39) |
F93S |
probably benign |
Het |
| Celf1 |
T |
A |
2: 90,833,602 (GRCm39) |
C119* |
probably null |
Het |
| Cfap57 |
C |
T |
4: 118,450,293 (GRCm39) |
V610M |
possibly damaging |
Het |
| Chrm4 |
T |
A |
2: 91,757,595 (GRCm39) |
M1K |
probably null |
Het |
| Chrnd |
C |
T |
1: 87,125,201 (GRCm39) |
T418I |
probably damaging |
Het |
| Coch |
G |
T |
12: 51,640,344 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,112,118 (GRCm39) |
T345A |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Corin |
T |
C |
5: 72,462,398 (GRCm39) |
I945V |
probably benign |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,783 (GRCm39) |
T371N |
probably benign |
Het |
| Dap |
T |
A |
15: 31,273,454 (GRCm39) |
*103R |
probably null |
Het |
| Defb35 |
T |
A |
8: 22,430,773 (GRCm39) |
V49E |
unknown |
Het |
| Dmtf1 |
T |
A |
5: 9,199,016 (GRCm39) |
D39V |
possibly damaging |
Het |
| Dmtn |
T |
C |
14: 70,855,460 (GRCm39) |
T10A |
probably damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,298,783 (GRCm39) |
E264K |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,771 (GRCm39) |
N278K |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,037 (GRCm39) |
S72T |
possibly damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,576,140 (GRCm39) |
S114T |
unknown |
Het |
| Focad |
T |
G |
4: 88,228,143 (GRCm39) |
I784S |
unknown |
Het |
| Fzd8 |
A |
T |
18: 9,214,171 (GRCm39) |
T418S |
probably damaging |
Het |
| Gclc |
A |
G |
9: 77,692,653 (GRCm39) |
Y264C |
probably benign |
Het |
| Ggn |
G |
A |
7: 28,872,459 (GRCm39) |
C649Y |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,089,092 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,526 (GRCm39) |
Y155C |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,422,354 (GRCm39) |
K191E |
probably benign |
Het |
| Ik |
A |
T |
18: 36,881,275 (GRCm39) |
S79C |
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Kpna2rt |
G |
A |
17: 90,217,563 (GRCm39) |
T61I |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,874,986 (GRCm39) |
S1461P |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,360,885 (GRCm39) |
V555E |
probably damaging |
Het |
| Met |
G |
A |
6: 17,491,316 (GRCm39) |
C26Y |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,633 (GRCm39) |
F77L |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,011 (GRCm39) |
D86E |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or12e8 |
G |
A |
2: 87,188,426 (GRCm39) |
V213I |
probably benign |
Het |
| Or56b1b |
T |
G |
7: 108,164,919 (GRCm39) |
S28R |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,331 (GRCm39) |
K236* |
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,437 (GRCm39) |
I98T |
probably benign |
Het |
| Patj |
A |
T |
4: 98,480,170 (GRCm39) |
I1296L |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,277,946 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,101 (GRCm39) |
Y234H |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,906,012 (GRCm39) |
S565G |
probably damaging |
Het |
| Plekha2 |
A |
C |
8: 25,578,411 (GRCm39) |
F30V |
probably damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,692,222 (GRCm39) |
M20V |
unknown |
Het |
| Pth2r |
A |
G |
1: 65,427,779 (GRCm39) |
D484G |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 78,995,210 (GRCm39) |
Q665* |
probably null |
Het |
| Scamp1 |
G |
A |
13: 94,369,648 (GRCm39) |
T59I |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,416 (GRCm39) |
D230V |
probably damaging |
Het |
| Snw1 |
C |
T |
12: 87,515,415 (GRCm39) |
G45R |
possibly damaging |
Het |
| Sox30 |
T |
A |
11: 45,875,347 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,450,886 (GRCm39) |
I2665K |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,641 (GRCm39) |
W437R |
unknown |
Het |
| Tln1 |
A |
G |
4: 43,542,602 (GRCm39) |
V1402A |
probably benign |
Het |
| Tpm1 |
A |
G |
9: 66,935,383 (GRCm39) |
L244P |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,290,388 (GRCm39) |
E32V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,552,073 (GRCm39) |
N31188S |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,379 (GRCm39) |
|
probably null |
Het |
| Usp13 |
T |
G |
3: 32,919,892 (GRCm39) |
|
probably null |
Het |
| Vax2 |
A |
G |
6: 83,688,298 (GRCm39) |
E7G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,612 (GRCm39) |
Y139* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,631,155 (GRCm39) |
D21G |
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 |
|
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'- AAATAGCTCCTGGGCCTCAG -3'
(R):5'- AGACGTGGGTCATCTGTATAAAC -3'
Sequencing Primer
(F):5'- AGCTCATAGGATGCTACGCCATTG -3'
(R):5'- CTGTATAAACTAGAGGTAGGTGCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation