Incidental Mutation 'R8194:Pcdh7'
| ID |
635337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh7
|
| Ensembl Gene |
ENSMUSG00000029108 |
| Gene Name |
protocadherin 7 |
| Synonyms |
BH-protocadherin |
| MMRRC Submission |
067617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8194 (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 T
at 57877678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 411
(N411I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068110]
[ENSMUST00000094783]
[ENSMUST00000191837]
[ENSMUST00000199310]
|
| AlphaFold |
A0A0A6YY83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068110
AA Change: N411I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: N411I
| 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: N411I
| 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 damaging
Transcript: ENSMUST00000191837
AA Change: N411I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N411I
| 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: 98.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4a |
T |
A |
12: 71,106,889 (GRCm39) |
Y320* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,960,062 (GRCm39) |
C2265S |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,713,694 (GRCm39) |
C55* |
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,005,430 (GRCm39) |
N405I |
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,944,325 (GRCm39) |
D526E |
probably damaging |
Het |
| Ccdc188 |
A |
G |
16: 18,036,244 (GRCm39) |
R71G |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,618,220 (GRCm39) |
R772W |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,414,600 (GRCm39) |
E172D |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,861,400 (GRCm39) |
M627V |
probably null |
Het |
| Chd1 |
G |
A |
17: 17,594,737 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,437,759 (GRCm39) |
H441R |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,274,638 (GRCm39) |
T313N |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,159 (GRCm39) |
N255S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,414 (GRCm39) |
D4395G |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gpsm1 |
CT |
CTT |
2: 26,217,364 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,954,716 (GRCm39) |
S1090G |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,931 (GRCm39) |
D1479G |
unknown |
Het |
| Man2a2 |
T |
C |
7: 80,010,766 (GRCm39) |
K742E |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,104,241 (GRCm39) |
S392T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,559,117 (GRCm39) |
I53T |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,986,867 (GRCm39) |
I219V |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,332 (GRCm39) |
E278V |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,290,801 (GRCm39) |
C29F |
|
Het |
| Mup20 |
T |
C |
4: 61,971,721 (GRCm39) |
I77V |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,982,828 (GRCm39) |
E849G |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,593,389 (GRCm39) |
N154S |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,454,502 (GRCm39) |
G429E |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,240 (GRCm39) |
I269F |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,285,886 (GRCm39) |
I183T |
possibly damaging |
Het |
| Prkar2a |
G |
A |
9: 108,569,710 (GRCm39) |
V19M |
probably damaging |
Het |
| Prss35 |
T |
G |
9: 86,637,666 (GRCm39) |
N145K |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,291,747 (GRCm39) |
D251E |
possibly damaging |
Het |
| Rnf169 |
C |
A |
7: 99,575,651 (GRCm39) |
V315F |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,455,761 (GRCm39) |
Y139H |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,870,328 (GRCm39) |
V522A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,717,952 (GRCm39) |
Q297L |
probably damaging |
Het |
| Sos2 |
A |
C |
12: 69,645,598 (GRCm39) |
Y914D |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,195,614 (GRCm39) |
T32N |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,138,369 (GRCm39) |
R1180C |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,042,921 (GRCm39) |
M1K |
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,652,236 (GRCm39) |
T749A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,621 (GRCm39) |
|
probably null |
Het |
| Tle6 |
A |
G |
10: 81,426,888 (GRCm39) |
V576A |
probably damaging |
Het |
| Usp17lc |
T |
A |
7: 103,067,407 (GRCm39) |
M234K |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,416,163 (GRCm39) |
I818V |
possibly damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,165 (GRCm39) |
L236P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,610 (GRCm39) |
D189G |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,772,229 (GRCm39) |
D294V |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,758 (GRCm39) |
F568L |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,975,479 (GRCm39) |
K488R |
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 |
|
R7463:Pcdh7
|
UTSW |
5 |
57,878,340 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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'- GCCACCGATTTGGATGTAGG -3'
(R):5'- AACGTCTCCCACTACGGTAC -3'
Sequencing Primer
(F):5'- ATGTATTTGGGGCTGCCACC -3'
(R):5'- TCTCCCACTACGGTACAGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation