Incidental Mutation 'R9448:Pcdh1'
| ID |
714101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh1
|
| Ensembl Gene |
ENSMUSG00000051375 |
| Gene Name |
protocadherin 1 |
| Synonyms |
2010005A06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R9448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38318967-38345023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38330492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 976
(P976L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057185]
[ENSMUST00000159405]
[ENSMUST00000160721]
[ENSMUST00000161701]
|
| AlphaFold |
Q8CFX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057185
AA Change: P976L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055199
Gene: ENSMUSG00000051375
AA Change: P976L
| 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: P976L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125309
Gene: ENSMUSG00000051375
AA Change: P976L
| 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: P837L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: P837L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,575 (GRCm39) |
V685A |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,162,849 (GRCm39) |
T417K |
probably benign |
Het |
| Atp6v1a |
T |
A |
16: 43,931,872 (GRCm39) |
K139* |
probably null |
Het |
| Baz1b |
T |
C |
5: 135,239,656 (GRCm39) |
I252T |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,759,338 (GRCm39) |
W380R |
|
Het |
| Cep290 |
T |
G |
10: 100,395,546 (GRCm39) |
V2118G |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,677,773 (GRCm39) |
D352G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,460,315 (GRCm39) |
D2581G |
|
Het |
| Diras2 |
T |
A |
13: 52,662,122 (GRCm39) |
T62S |
possibly damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,255 (GRCm39) |
V202A |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,861,952 (GRCm39) |
K455M |
probably damaging |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,087,881 (GRCm39) |
N426S |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,888 (GRCm39) |
W326R |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
| Flii |
T |
C |
11: 60,606,393 (GRCm39) |
N1099S |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,744,406 (GRCm39) |
T381A |
possibly damaging |
Het |
| Foxl1 |
T |
C |
8: 121,855,608 (GRCm39) |
V303A |
probably benign |
Het |
| Fsd1l |
G |
T |
4: 53,694,826 (GRCm39) |
E427* |
probably null |
Het |
| Galnt18 |
A |
T |
7: 111,153,649 (GRCm39) |
I325N |
probably damaging |
Het |
| Gm5478 |
T |
C |
15: 101,553,662 (GRCm39) |
N274S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,335,193 (GRCm39) |
T535S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,068,015 (GRCm39) |
D1791G |
probably benign |
Het |
| Igkv12-98 |
T |
C |
6: 68,548,156 (GRCm39) |
I95T |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,366,604 (GRCm39) |
Y46C |
probably benign |
Het |
| Inhca |
G |
T |
9: 103,149,781 (GRCm39) |
Q259K |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,102,569 (GRCm39) |
E1186G |
probably benign |
Het |
| Knstrn |
T |
C |
2: 118,644,975 (GRCm39) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,666,455 (GRCm39) |
Q1383* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,805,869 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
G |
18: 21,217,199 (GRCm39) |
D106G |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,160 (GRCm39) |
N90S |
probably benign |
Het |
| Ms4a4c |
T |
A |
19: 11,392,317 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,000,956 (GRCm39) |
M84L |
probably benign |
Het |
| Noc2l |
C |
A |
4: 156,320,781 (GRCm39) |
R66S |
probably benign |
Het |
| Nox4 |
A |
T |
7: 87,045,001 (GRCm39) |
L580F |
unknown |
Het |
| Numb |
A |
G |
12: 83,888,990 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,221 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,523,824 (GRCm39) |
V134E |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,039,360 (GRCm39) |
K274* |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pdzk1 |
A |
T |
3: 96,761,922 (GRCm39) |
D178V |
probably damaging |
Het |
| Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,141,645 (GRCm39) |
E111G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,045 (GRCm39) |
E84K |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,108,034 (GRCm39) |
Y646N |
probably benign |
Het |
| Psmc6 |
T |
C |
14: 45,568,483 (GRCm39) |
F69L |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,215,041 (GRCm39) |
S46C |
possibly damaging |
Het |
| Ptpn6 |
G |
A |
6: 124,709,771 (GRCm39) |
R23W |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,149,819 (GRCm39) |
Y143* |
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,338,091 (GRCm39) |
E141G |
probably benign |
Het |
| Rsf1 |
G |
GCCGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,381,127 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,179,704 (GRCm39) |
F676S |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,250 (GRCm39) |
Y635* |
probably null |
Het |
| Spata31f1e |
T |
C |
4: 42,793,440 (GRCm39) |
R231G |
probably benign |
Het |
| Spata32 |
C |
T |
11: 103,099,648 (GRCm39) |
G286R |
probably damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,090 (GRCm39) |
K135E |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,567 (GRCm39) |
T1494A |
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,808,211 (GRCm39) |
D71A |
probably damaging |
Het |
| Tnfsf15 |
A |
T |
4: 63,663,305 (GRCm39) |
V6D |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,248,948 (GRCm39) |
V182A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,027 (GRCm39) |
V104D |
probably benign |
Het |
| Zdhhc8 |
C |
A |
16: 18,039,558 (GRCm39) |
G159C |
|
Het |
| Zfy2 |
A |
G |
Y: 2,109,904 (GRCm39) |
W338R |
probably damaging |
Het |
| Znfx1 |
T |
G |
2: 166,888,844 (GRCm39) |
Q788P |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,632,431 (GRCm39) |
V100A |
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 |
|
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 |
|
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'- AGTCGATCATGGCGGGTAAG -3'
(R):5'- AACCTAATGAGCGATGCCC -3'
Sequencing Primer
(F):5'- GGGTAAGACACACCTGCTCTATC -3'
(R):5'- TAATGAGCGATGCCCCTGGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation