Incidental Mutation 'R7463:Pcdh7'
ID |
578552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh7
|
Ensembl Gene |
ENSMUSG00000029108 |
Gene Name |
protocadherin 7 |
Synonyms |
BH-protocadherin |
MMRRC Submission |
045537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R7463 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
57875309-58290572 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57878340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 632
(K632E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068110]
[ENSMUST00000094783]
[ENSMUST00000191837]
[ENSMUST00000199310]
|
AlphaFold |
A0A0A6YY83 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068110
AA Change: K632E
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000066306 Gene: ENSMUSG00000029108 AA Change: K632E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
CA
|
48 |
141 |
7.29e-4 |
SMART |
CA
|
165 |
306 |
1.13e-18 |
SMART |
CA
|
330 |
413 |
2.12e-23 |
SMART |
CA
|
445 |
533 |
1.53e-20 |
SMART |
CA
|
557 |
637 |
1.36e-26 |
SMART |
CA
|
661 |
740 |
2.38e-26 |
SMART |
CA
|
766 |
847 |
2.01e-15 |
SMART |
transmembrane domain
|
878 |
900 |
N/A |
INTRINSIC |
low complexity region
|
929 |
944 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000092376 Gene: ENSMUSG00000029108 AA Change: K632E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
CA
|
48 |
141 |
7.29e-4 |
SMART |
CA
|
165 |
306 |
1.13e-18 |
SMART |
CA
|
330 |
413 |
2.12e-23 |
SMART |
CA
|
445 |
533 |
1.53e-20 |
SMART |
CA
|
557 |
637 |
1.36e-26 |
SMART |
CA
|
661 |
740 |
2.38e-26 |
SMART |
CA
|
766 |
847 |
2.01e-15 |
SMART |
transmembrane domain
|
878 |
900 |
N/A |
INTRINSIC |
low complexity region
|
929 |
944 |
N/A |
INTRINSIC |
low complexity region
|
1088 |
1099 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191837
AA Change: K632E
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000142319 Gene: ENSMUSG00000029108 AA Change: K632E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
CA
|
48 |
141 |
7.29e-4 |
SMART |
CA
|
165 |
306 |
1.13e-18 |
SMART |
CA
|
330 |
413 |
2.12e-23 |
SMART |
CA
|
445 |
533 |
1.53e-20 |
SMART |
CA
|
557 |
637 |
1.36e-26 |
SMART |
CA
|
661 |
740 |
2.38e-26 |
SMART |
CA
|
766 |
847 |
2.01e-15 |
SMART |
transmembrane domain
|
878 |
900 |
N/A |
INTRINSIC |
low complexity region
|
929 |
944 |
N/A |
INTRINSIC |
low complexity region
|
1088 |
1099 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192048
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195156
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199310
|
SMART Domains |
Protein: ENSMUSP00000143387 Gene: ENSMUSG00000029108
Domain | Start | End | E-Value | Type |
Pfam:Protocadherin
|
1 |
79 |
5.1e-40 |
PFAM |
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
Other mutations in Pcdh7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Pcdh7
|
APN |
5 |
57,878,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00920:Pcdh7
|
APN |
5 |
57,877,473 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00990:Pcdh7
|
APN |
5 |
57,877,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01367:Pcdh7
|
APN |
5 |
58,286,566 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01388:Pcdh7
|
APN |
5 |
57,877,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01543:Pcdh7
|
APN |
5 |
57,878,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01750:Pcdh7
|
APN |
5 |
57,877,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Pcdh7
|
APN |
5 |
58,286,597 (GRCm39) |
missense |
probably benign |
|
IGL02014:Pcdh7
|
APN |
5 |
57,877,045 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02269:Pcdh7
|
APN |
5 |
58,070,664 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03051:Pcdh7
|
APN |
5 |
58,286,415 (GRCm39) |
missense |
probably damaging |
0.99 |
floated
|
UTSW |
5 |
57,878,704 (GRCm39) |
missense |
probably damaging |
1.00 |
proposed
|
UTSW |
5 |
57,879,582 (GRCm39) |
missense |
probably damaging |
0.99 |
P0037:Pcdh7
|
UTSW |
5 |
58,070,590 (GRCm39) |
missense |
probably benign |
0.17 |
R0003:Pcdh7
|
UTSW |
5 |
58,070,590 (GRCm39) |
missense |
probably benign |
0.17 |
R0421:Pcdh7
|
UTSW |
5 |
57,877,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R0551:Pcdh7
|
UTSW |
5 |
57,879,336 (GRCm39) |
missense |
probably damaging |
0.99 |
R0562:Pcdh7
|
UTSW |
5 |
57,877,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R0732:Pcdh7
|
UTSW |
5 |
57,878,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0755:Pcdh7
|
UTSW |
5 |
57,877,664 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1080:Pcdh7
|
UTSW |
5 |
57,876,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Pcdh7
|
UTSW |
5 |
57,878,882 (GRCm39) |
nonsense |
probably null |
|
R1591:Pcdh7
|
UTSW |
5 |
57,877,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Pcdh7
|
UTSW |
5 |
57,878,217 (GRCm39) |
missense |
probably damaging |
0.98 |
R2011:Pcdh7
|
UTSW |
5 |
57,876,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Pcdh7
|
UTSW |
5 |
58,286,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:Pcdh7
|
UTSW |
5 |
58,286,458 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2848:Pcdh7
|
UTSW |
5 |
57,877,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Pcdh7
|
UTSW |
5 |
57,879,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Pcdh7
|
UTSW |
5 |
57,879,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R3719:Pcdh7
|
UTSW |
5 |
58,286,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4075:Pcdh7
|
UTSW |
5 |
57,879,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Pcdh7
|
UTSW |
5 |
57,876,631 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4236:Pcdh7
|
UTSW |
5 |
57,876,631 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4352:Pcdh7
|
UTSW |
5 |
57,879,361 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4420:Pcdh7
|
UTSW |
5 |
58,286,512 (GRCm39) |
missense |
probably benign |
0.03 |
R4449:Pcdh7
|
UTSW |
5 |
57,877,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Pcdh7
|
UTSW |
5 |
57,878,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R4686:Pcdh7
|
UTSW |
5 |
58,286,511 (GRCm39) |
missense |
probably benign |
|
R4837:Pcdh7
|
UTSW |
5 |
57,877,753 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4838:Pcdh7
|
UTSW |
5 |
57,878,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Pcdh7
|
UTSW |
5 |
57,879,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R5053:Pcdh7
|
UTSW |
5 |
57,878,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R5068:Pcdh7
|
UTSW |
5 |
57,879,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5117:Pcdh7
|
UTSW |
5 |
57,879,090 (GRCm39) |
missense |
probably benign |
0.09 |
R5132:Pcdh7
|
UTSW |
5 |
57,885,463 (GRCm39) |
missense |
probably benign |
|
R5248:Pcdh7
|
UTSW |
5 |
58,286,515 (GRCm39) |
missense |
probably damaging |
0.97 |
R5294:Pcdh7
|
UTSW |
5 |
57,885,453 (GRCm39) |
splice site |
probably null |
|
R5420:Pcdh7
|
UTSW |
5 |
57,877,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R5777:Pcdh7
|
UTSW |
5 |
57,876,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R5800:Pcdh7
|
UTSW |
5 |
57,879,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Pcdh7
|
UTSW |
5 |
57,878,970 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5870:Pcdh7
|
UTSW |
5 |
57,877,753 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5917:Pcdh7
|
UTSW |
5 |
57,879,097 (GRCm39) |
missense |
probably damaging |
0.96 |
R6014:Pcdh7
|
UTSW |
5 |
57,878,497 (GRCm39) |
missense |
probably damaging |
0.99 |
R6193:Pcdh7
|
UTSW |
5 |
57,877,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R6240:Pcdh7
|
UTSW |
5 |
57,878,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Pcdh7
|
UTSW |
5 |
58,099,607 (GRCm39) |
splice site |
probably null |
|
R6418:Pcdh7
|
UTSW |
5 |
57,879,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R6907:Pcdh7
|
UTSW |
5 |
57,876,471 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7058:Pcdh7
|
UTSW |
5 |
57,879,582 (GRCm39) |
missense |
probably damaging |
0.99 |
R7069:Pcdh7
|
UTSW |
5 |
57,877,126 (GRCm39) |
missense |
probably benign |
0.00 |
R7073:Pcdh7
|
UTSW |
5 |
57,878,299 (GRCm39) |
missense |
probably benign |
0.19 |
R7509:Pcdh7
|
UTSW |
5 |
57,877,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R7588:Pcdh7
|
UTSW |
5 |
57,877,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Pcdh7
|
UTSW |
5 |
57,877,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R7734:Pcdh7
|
UTSW |
5 |
57,876,976 (GRCm39) |
missense |
probably damaging |
0.99 |
R7899:Pcdh7
|
UTSW |
5 |
57,877,152 (GRCm39) |
missense |
probably benign |
|
R8194:Pcdh7
|
UTSW |
5 |
57,877,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Pcdh7
|
UTSW |
5 |
58,286,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Pcdh7
|
UTSW |
5 |
57,876,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8906:Pcdh7
|
UTSW |
5 |
57,879,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R8990:Pcdh7
|
UTSW |
5 |
57,879,364 (GRCm39) |
missense |
probably benign |
0.06 |
R9264:Pcdh7
|
UTSW |
5 |
58,286,663 (GRCm39) |
missense |
probably benign |
0.09 |
R9272:Pcdh7
|
UTSW |
5 |
57,878,779 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9294:Pcdh7
|
UTSW |
5 |
57,878,677 (GRCm39) |
missense |
probably benign |
0.39 |
R9518:Pcdh7
|
UTSW |
5 |
58,070,513 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9597:Pcdh7
|
UTSW |
5 |
57,877,197 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9642:Pcdh7
|
UTSW |
5 |
57,876,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R9745:Pcdh7
|
UTSW |
5 |
57,879,622 (GRCm39) |
critical splice donor site |
probably null |
|
X0021:Pcdh7
|
UTSW |
5 |
57,878,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0026:Pcdh7
|
UTSW |
5 |
57,876,721 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdh7
|
UTSW |
5 |
57,877,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGACTCCTCAGTGATGG -3'
(R):5'- AGTCTGATGTTCCCTGTCAAAAG -3'
Sequencing Primer
(F):5'- GGGGACTTTTGCCATCGATCC -3'
(R):5'- CCCTGTCAAAAGACATTGTGG -3'
|
Posted On |
2019-10-07 |