Incidental Mutation 'R7391:Pcdh1'
| ID |
573472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh1
|
| Ensembl Gene |
ENSMUSG00000051375 |
| Gene Name |
protocadherin 1 |
| Synonyms |
2010005A06Rik |
| MMRRC Submission |
045473-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.330)
|
| Stock # |
R7391 (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 38335838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 266
(E266K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057185]
[ENSMUST00000159405]
[ENSMUST00000160721]
[ENSMUST00000161701]
[ENSMUST00000193828]
[ENSMUST00000194312]
|
| AlphaFold |
Q8CFX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057185
AA Change: E266K
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055199
Gene: ENSMUSG00000051375
AA Change: E266K
| 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 |
possibly damaging
Transcript: ENSMUST00000159405
AA Change: E266K
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125309
Gene: ENSMUSG00000051375
AA Change: E266K
| 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: ENSMUST00000160721
AA Change: E266K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124732
Gene: ENSMUSG00000051375
AA Change: E266K
| 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 |
possibly damaging
Transcript: ENSMUST00000161701
AA Change: E127K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: E127K
| 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 |
0.1084 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (79/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
A |
T |
10: 18,522,007 (GRCm39) |
I673K |
probably benign |
Het |
| Arhgap32 |
C |
A |
9: 32,093,235 (GRCm39) |
T196K |
probably benign |
Het |
| Azi2 |
T |
A |
9: 117,879,960 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
T |
11: 22,786,482 (GRCm39) |
C235* |
probably null |
Het |
| Capn5 |
C |
T |
7: 97,780,426 (GRCm39) |
V315M |
probably benign |
Het |
| Ccl24 |
T |
A |
5: 135,599,676 (GRCm39) |
R111S |
possibly damaging |
Het |
| Cdk9 |
A |
G |
2: 32,602,083 (GRCm39) |
V45A |
probably damaging |
Het |
| Cep162 |
G |
T |
9: 87,130,547 (GRCm39) |
S21* |
probably null |
Het |
| Chil3 |
T |
A |
3: 106,071,496 (GRCm39) |
Y56F |
probably damaging |
Het |
| Ctr9 |
T |
A |
7: 110,642,378 (GRCm39) |
L368* |
probably null |
Het |
| Ctss |
A |
G |
3: 95,436,852 (GRCm39) |
E45G |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,296,211 (GRCm39) |
Q214L |
probably null |
Het |
| Cyp2d34 |
T |
A |
15: 82,502,587 (GRCm39) |
N183I |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,099,393 (GRCm39) |
N1139K |
probably benign |
Het |
| Elp1 |
C |
A |
4: 56,781,211 (GRCm39) |
Q487H |
possibly damaging |
Het |
| Elp1 |
T |
G |
4: 56,781,212 (GRCm39) |
Q487P |
probably benign |
Het |
| Ermp1 |
C |
A |
19: 29,604,468 (GRCm39) |
|
probably null |
Het |
| Ermp1 |
T |
A |
19: 29,604,469 (GRCm39) |
|
probably null |
Het |
| Evi2 |
A |
G |
11: 79,406,493 (GRCm39) |
S361P |
probably benign |
Het |
| Ext2 |
T |
A |
2: 93,560,612 (GRCm39) |
K518M |
probably damaging |
Het |
| Fgl1 |
A |
C |
8: 41,663,483 (GRCm39) |
M15R |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,820,663 (GRCm39) |
D5465E |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,358,783 (GRCm39) |
I256N |
possibly damaging |
Het |
| Hmmr |
G |
T |
11: 40,598,613 (GRCm39) |
|
probably null |
Het |
| Hnrnpu |
T |
C |
1: 178,164,643 (GRCm39) |
Q165R |
unknown |
Het |
| Homer3 |
G |
A |
8: 70,742,134 (GRCm39) |
A132T |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,359 (GRCm39) |
K575E |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 166,947,370 (GRCm39) |
R493G |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,516,778 (GRCm39) |
T396S |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,810 (GRCm39) |
S67P |
unknown |
Het |
| Lama4 |
G |
T |
10: 38,963,383 (GRCm39) |
|
probably null |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,919,816 (GRCm39) |
E442V |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,550,832 (GRCm39) |
V5154I |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,539,317 (GRCm39) |
M2028K |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,347,470 (GRCm39) |
W249R |
possibly damaging |
Het |
| Neurod6 |
T |
C |
6: 55,656,616 (GRCm39) |
D7G |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,389,046 (GRCm39) |
E158G |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,198 (GRCm39) |
N282K |
possibly damaging |
Het |
| Or2h15 |
A |
T |
17: 38,441,941 (GRCm39) |
F47L |
probably benign |
Het |
| Or2t26 |
A |
G |
11: 49,039,806 (GRCm39) |
T241A |
probably damaging |
Het |
| Or2y11 |
T |
C |
11: 49,443,371 (GRCm39) |
S266P |
probably damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,189 (GRCm39) |
N144D |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,665,266 (GRCm39) |
D457G |
probably benign |
Het |
| Parn |
C |
A |
16: 13,485,870 (GRCm39) |
|
probably null |
Het |
| Pigr |
A |
G |
1: 130,777,303 (GRCm39) |
D703G |
probably damaging |
Het |
| Ppm1f |
T |
A |
16: 16,732,098 (GRCm39) |
S183T |
probably benign |
Het |
| Ppp2r5b |
T |
A |
19: 6,278,544 (GRCm39) |
Q455L |
probably benign |
Het |
| Pramel20 |
T |
A |
4: 143,298,876 (GRCm39) |
L273H |
probably damaging |
Het |
| Ptpn13 |
C |
T |
5: 103,688,847 (GRCm39) |
S880L |
probably damaging |
Het |
| R3hdm4 |
T |
C |
10: 79,746,943 (GRCm39) |
K240R |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,100,888 (GRCm39) |
M1T |
probably null |
Het |
| Rundc3b |
T |
A |
5: 8,609,455 (GRCm39) |
M170L |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,611,322 (GRCm39) |
|
probably null |
Het |
| Scn11a |
T |
C |
9: 119,624,783 (GRCm39) |
D513G |
probably damaging |
Het |
| Slc27a2 |
C |
A |
2: 126,395,082 (GRCm39) |
P3Q |
unknown |
Het |
| Slc4a8 |
A |
G |
15: 100,682,743 (GRCm39) |
I187M |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,215,422 (GRCm39) |
I441F |
probably benign |
Het |
| Stx2 |
C |
T |
5: 129,065,867 (GRCm39) |
R263Q |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,145,185 (GRCm39) |
W427R |
probably damaging |
Het |
| Tes |
T |
A |
6: 17,096,166 (GRCm39) |
H51Q |
probably damaging |
Het |
| Thnsl2 |
T |
C |
6: 71,108,914 (GRCm39) |
D299G |
probably damaging |
Het |
| Tmem30b |
T |
C |
12: 73,592,702 (GRCm39) |
S138G |
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,385,650 (GRCm39) |
H274L |
probably damaging |
Het |
| Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
| Unc13b |
A |
G |
4: 43,216,459 (GRCm39) |
I253V |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,687 (GRCm39) |
S3305G |
probably benign |
Het |
| Ush2a |
TCACC |
TC |
1: 188,694,205 (GRCm39) |
|
probably benign |
Het |
| Virma |
A |
G |
4: 11,508,099 (GRCm39) |
D267G |
probably damaging |
Het |
| Vmn1r46 |
C |
T |
6: 89,953,607 (GRCm39) |
S152L |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,065,502 (GRCm39) |
N1621S |
probably benign |
Het |
| Zfhx3 |
G |
A |
8: 109,674,475 (GRCm39) |
A1842T |
probably damaging |
Het |
| Zfp583 |
A |
G |
7: 6,319,498 (GRCm39) |
S505P |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,619 (GRCm39) |
Y1107C |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,976,155 (GRCm39) |
H808R |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,653 (GRCm39) |
F570S |
possibly damaging |
Het |
| Zfp85 |
A |
T |
13: 67,897,410 (GRCm39) |
Y221N |
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 |
|
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 |
|
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'- TGGATCGGCAAACACTACAG -3'
(R):5'- TGAGGCCCAGGAGCTATTTG -3'
Sequencing Primer
(F):5'- GATCGGCAAACACTACAGCATTCTG -3'
(R):5'- CCCAGGAGCTATTTGGACTACAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation