Incidental Mutation 'R4352:Pcdh7'
| ID |
327332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh7
|
| Ensembl Gene |
ENSMUSG00000029108 |
| Gene Name |
protocadherin 7 |
| Synonyms |
BH-protocadherin |
| MMRRC Submission |
041668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R4352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
57875309-58290572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57879361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 972
(S972L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068110]
[ENSMUST00000094783]
[ENSMUST00000191837]
[ENSMUST00000199310]
|
| AlphaFold |
A0A0A6YY83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068110
AA Change: S972L
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: S972L
| 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 |
probably benign
Transcript: ENSMUST00000094783
AA Change: S972L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: S972L
| 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 |
noncoding transcript
Transcript: ENSMUST00000180708
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191837
AA Change: S972L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: S972L
| 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 |
probably benign
Transcript: ENSMUST00000192287
AA Change: S632L
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195156
AA Change: S286L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200266
|
| 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 |
|
| Meta Mutation Damage Score |
0.0937 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (79/82) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ankrd54 |
A |
T |
15: 78,939,662 (GRCm39) |
F176I |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,576,239 (GRCm39) |
E94V |
possibly damaging |
Het |
| Arid1b |
A |
T |
17: 5,147,859 (GRCm39) |
Q587L |
possibly damaging |
Het |
| Atg2a |
G |
A |
19: 6,307,487 (GRCm39) |
V1474M |
probably benign |
Het |
| Bcl2a1d |
A |
G |
9: 88,613,552 (GRCm39) |
V74A |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,395,248 (GRCm39) |
I660V |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,105,365 (GRCm39) |
M1K |
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Ddx47 |
C |
T |
6: 134,995,018 (GRCm39) |
T161I |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,630,140 (GRCm39) |
L957Q |
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,501,096 (GRCm39) |
|
probably benign |
Het |
| Espnl |
A |
T |
1: 91,262,443 (GRCm39) |
D296V |
probably damaging |
Het |
| Fam161a |
T |
G |
11: 22,970,798 (GRCm39) |
S109R |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 16,158,074 (GRCm39) |
T1179P |
possibly damaging |
Het |
| Gfra1 |
A |
T |
19: 58,255,456 (GRCm39) |
N330K |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5885 |
T |
A |
6: 133,508,152 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| H2-Q1 |
A |
G |
17: 35,539,919 (GRCm39) |
N63D |
possibly damaging |
Het |
| Itgb2 |
A |
T |
10: 77,392,001 (GRCm39) |
N358I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,080,588 (GRCm39) |
T2247A |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,720 (GRCm39) |
K1036I |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,056,018 (GRCm39) |
S278R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,262,526 (GRCm39) |
|
probably null |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Mpzl1 |
G |
A |
1: 165,433,376 (GRCm39) |
Q36* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,646 (GRCm39) |
N190D |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,646,592 (GRCm39) |
S647P |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,705,396 (GRCm39) |
C644S |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Paqr3 |
T |
C |
5: 97,247,455 (GRCm39) |
T218A |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ralb |
A |
G |
1: 119,411,282 (GRCm39) |
M19T |
probably benign |
Het |
| Rcan1 |
A |
G |
16: 92,190,384 (GRCm39) |
I185T |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Rock1 |
T |
A |
18: 10,079,237 (GRCm39) |
Q1077L |
probably damaging |
Het |
| Sesn3 |
C |
T |
9: 14,231,669 (GRCm39) |
A200V |
probably damaging |
Het |
| Shh |
T |
C |
5: 28,663,187 (GRCm39) |
E327G |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,354,686 (GRCm39) |
A333V |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,592,390 (GRCm39) |
I256F |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,392,614 (GRCm39) |
|
probably benign |
Het |
| Tas2r139 |
T |
A |
6: 42,118,689 (GRCm39) |
W274R |
probably damaging |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,114 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,089,429 (GRCm39) |
S584P |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,407 (GRCm39) |
D75G |
probably damaging |
Het |
| Tex10 |
T |
G |
4: 48,452,039 (GRCm39) |
T696P |
possibly damaging |
Het |
| Tgfbr1 |
T |
C |
4: 47,402,863 (GRCm39) |
F206S |
probably damaging |
Het |
| Tmem241 |
A |
T |
18: 12,246,496 (GRCm39) |
H51Q |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,926,015 (GRCm39) |
V182D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
| Ugp2 |
C |
T |
11: 21,279,026 (GRCm39) |
V387I |
probably damaging |
Het |
| Unc45b |
G |
A |
11: 82,804,035 (GRCm39) |
D71N |
probably damaging |
Het |
| Usp34 |
A |
T |
11: 23,270,727 (GRCm39) |
Y37F |
possibly damaging |
Het |
| Zfp943 |
A |
T |
17: 22,212,104 (GRCm39) |
I397F |
probably damaging |
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 |
|
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 |
|
|
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'- TGGCAAGATACTGCAGGTCC -3'
(R):5'- GCTCCCACAAATGTGTTGG -3'
Sequencing Primer
(F):5'- CTGCAGGTCCAAAAATAAAAATGGC -3'
(R):5'- CCCACAAATGTGTTGGCTGGTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation