Incidental Mutation 'IGL00920:Pcdh7'
| ID | 27416 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Pcdh7
|
|---|
| Ensembl Gene |
ENSMUSG00000029108 |
|---|
| Gene Name | protocadherin 7 |
|---|
| Synonyms | BH-protocadherin |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.178)
|
|---|
| Stock # | IGL00920
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 5 |
|---|
| Chromosomal Location | 57717967-58133230 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 57720131 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 343
(I343F)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142319
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068110]
[ENSMUST00000094783]
[ENSMUST00000191837]
[ENSMUST00000199310]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068110
AA Change: I343F
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: I343F
| 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 |
unknown
Transcript: ENSMUST00000094783
AA Change: I343F
|
|---|
| SMART Domains |
Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: I343F
| 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 |
probably damaging
Transcript: ENSMUST00000191837
AA Change: I343F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: I343F
| 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 |
unknown
Transcript: ENSMUST00000192287
AA Change: I3F
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193156
|
|---|
| 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 |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200266
|
|---|
| Coding Region Coverage |
|
|---|
| 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 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]
|
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| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd209e |
T |
C |
8: 3,849,187 |
D175G |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,981,486 |
I165V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,338,308 |
G145C |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,200,599 |
T357A |
probably benign |
Het |
| Gm42416 |
T |
A |
18: 36,952,767 |
M1K |
probably null |
Het |
| Gm428 |
T |
A |
4: 73,687,442 |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,649,902 |
R517L |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,976,493 |
D600E |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,438,211 |
D143G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 32,147,620 |
F14S |
probably benign |
Het |
| Olfr1009 |
A |
T |
2: 85,722,239 |
Y278F |
probably damaging |
Het |
| Olfr971 |
T |
C |
9: 39,839,934 |
F167L |
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,727,437 |
R264H |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,157,087 |
|
probably benign |
Het |
| Pycr2 |
T |
A |
1: 180,906,393 |
|
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,593,356 |
Y133N |
probably damaging |
Het |
| Slc17a3 |
A |
G |
13: 23,856,481 |
I263V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,003,209 |
E562D |
probably damaging |
Het |
| Spty2d1 |
T |
C |
7: 46,998,987 |
R65G |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 118,113,201 |
T100I |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,138,682 |
N213S |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,444,654 |
|
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,848,024 |
I253V |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,464,524 |
V798I |
unknown |
Het |
| Zfp608 |
C |
T |
18: 54,889,831 |
M1504I |
probably benign |
Het |
|
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| Other mutations in Pcdh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Pcdh7
|
APN |
5 |
57721464 |
missense |
probably damaging |
1.00 |
|
IGL00990:Pcdh7
|
APN |
5 |
57720464 |
missense |
possibly damaging |
0.94 |
|
IGL01367:Pcdh7
|
APN |
5 |
58129224 |
missense |
possibly damaging |
0.67 |
|
IGL01388:Pcdh7
|
APN |
5 |
57720204 |
missense |
probably damaging |
1.00 |
|
IGL01543:Pcdh7
|
APN |
5 |
57720765 |
missense |
probably damaging |
1.00 |
|
IGL01750:Pcdh7
|
APN |
5 |
57720422 |
missense |
probably damaging |
1.00 |
|
IGL02010:Pcdh7
|
APN |
5 |
58129255 |
missense |
probably benign |
|
|
IGL02014:Pcdh7
|
APN |
5 |
57719703 |
missense |
probably benign |
0.03 |
|
IGL02269:Pcdh7
|
APN |
5 |
57913322 |
missense |
probably damaging |
1.00 |
|
IGL03051:Pcdh7
|
APN |
5 |
58129073 |
missense |
probably damaging |
0.99 |
|
P0037:Pcdh7
|
UTSW |
5 |
57913248 |
missense |
probably benign |
0.17 |
|
R0003:Pcdh7
|
UTSW |
5 |
57913248 |
missense |
probably benign |
0.17 |
|
R0421:Pcdh7
|
UTSW |
5 |
57720060 |
missense |
probably damaging |
1.00 |
|
R0551:Pcdh7
|
UTSW |
5 |
57721994 |
missense |
probably damaging |
0.99 |
|
R0562:Pcdh7
|
UTSW |
5 |
57720063 |
missense |
probably damaging |
0.99 |
|
R0732:Pcdh7
|
UTSW |
5 |
57721315 |
missense |
probably damaging |
1.00 |
|
R0755:Pcdh7
|
UTSW |
5 |
57720322 |
missense |
possibly damaging |
0.86 |
|
R1080:Pcdh7
|
UTSW |
5 |
57719426 |
missense |
probably damaging |
1.00 |
|
R1381:Pcdh7
|
UTSW |
5 |
57721540 |
nonsense |
probably null |
|
|
R1591:Pcdh7
|
UTSW |
5 |
57720422 |
missense |
probably damaging |
1.00 |
|
R1891:Pcdh7
|
UTSW |
5 |
57720875 |
missense |
probably damaging |
0.98 |
|
R2011:Pcdh7
|
UTSW |
5 |
57719629 |
missense |
probably damaging |
1.00 |
|
R2140:Pcdh7
|
UTSW |
5 |
58128996 |
missense |
probably damaging |
1.00 |
|
R2147:Pcdh7
|
UTSW |
5 |
58129116 |
missense |
possibly damaging |
0.51 |
|
R2848:Pcdh7
|
UTSW |
5 |
57720276 |
missense |
probably damaging |
1.00 |
|
R2867:Pcdh7
|
UTSW |
5 |
57721894 |
missense |
probably damaging |
1.00 |
|
R2867:Pcdh7
|
UTSW |
5 |
57721894 |
missense |
probably damaging |
1.00 |
|
R3719:Pcdh7
|
UTSW |
5 |
58129032 |
missense |
probably damaging |
1.00 |
|
R4075:Pcdh7
|
UTSW |
5 |
57721808 |
missense |
probably damaging |
1.00 |
|
R4231:Pcdh7
|
UTSW |
5 |
57719289 |
missense |
possibly damaging |
0.94 |
|
R4236:Pcdh7
|
UTSW |
5 |
57719289 |
missense |
possibly damaging |
0.94 |
|
R4352:Pcdh7
|
UTSW |
5 |
57722019 |
missense |
possibly damaging |
0.88 |
|
R4420:Pcdh7
|
UTSW |
5 |
58129170 |
missense |
probably benign |
0.03 |
|
R4449:Pcdh7
|
UTSW |
5 |
57720485 |
missense |
probably damaging |
1.00 |
|
R4584:Pcdh7
|
UTSW |
5 |
57721283 |
missense |
probably damaging |
1.00 |
|
R4686:Pcdh7
|
UTSW |
5 |
58129169 |
missense |
probably benign |
|
|
R4837:Pcdh7
|
UTSW |
5 |
57720411 |
missense |
possibly damaging |
0.89 |
|
R4838:Pcdh7
|
UTSW |
5 |
57720804 |
missense |
probably damaging |
1.00 |
|
R4947:Pcdh7
|
UTSW |
5 |
57721916 |
missense |
probably damaging |
0.98 |
|
R5053:Pcdh7
|
UTSW |
5 |
57721601 |
missense |
probably damaging |
0.99 |
|
R5068:Pcdh7
|
UTSW |
5 |
57722166 |
missense |
probably damaging |
1.00 |
|
R5117:Pcdh7
|
UTSW |
5 |
57721748 |
missense |
probably benign |
0.09 |
|
R5132:Pcdh7
|
UTSW |
5 |
57728121 |
missense |
probably benign |
|
|
R5248:Pcdh7
|
UTSW |
5 |
58129173 |
missense |
probably damaging |
0.97 |
|
R5294:Pcdh7
|
UTSW |
5 |
57728111 |
splice site |
probably null |
|
|
R5420:Pcdh7
|
UTSW |
5 |
57720187 |
missense |
probably damaging |
1.00 |
|
R5777:Pcdh7
|
UTSW |
5 |
57719514 |
missense |
probably damaging |
1.00 |
|
R5800:Pcdh7
|
UTSW |
5 |
57722225 |
missense |
probably damaging |
1.00 |
|
R5834:Pcdh7
|
UTSW |
5 |
57721628 |
missense |
possibly damaging |
0.90 |
|
R5870:Pcdh7
|
UTSW |
5 |
57720411 |
missense |
possibly damaging |
0.89 |
|
R5917:Pcdh7
|
UTSW |
5 |
57721755 |
missense |
probably damaging |
0.96 |
|
R6014:Pcdh7
|
UTSW |
5 |
57721155 |
missense |
probably damaging |
0.99 |
|
R6193:Pcdh7
|
UTSW |
5 |
57720324 |
missense |
probably damaging |
1.00 |
|
R6240:Pcdh7
|
UTSW |
5 |
57721362 |
missense |
probably damaging |
1.00 |
|
R6335:Pcdh7
|
UTSW |
5 |
57942265 |
unclassified |
probably null |
|
|
R6418:Pcdh7
|
UTSW |
5 |
57721704 |
missense |
probably damaging |
1.00 |
|
R6907:Pcdh7
|
UTSW |
5 |
57719129 |
missense |
possibly damaging |
0.53 |
|
R7058:Pcdh7
|
UTSW |
5 |
57722240 |
missense |
probably damaging |
0.99 |
|
R7069:Pcdh7
|
UTSW |
5 |
57719784 |
missense |
probably benign |
0.00 |
|
R7073:Pcdh7
|
UTSW |
5 |
57720957 |
missense |
probably benign |
0.19 |
|
R7463:Pcdh7
|
UTSW |
5 |
57720998 |
missense |
probably benign |
0.06 |
|
R7509:Pcdh7
|
UTSW |
5 |
57720187 |
missense |
probably damaging |
1.00 |
|
R7588:Pcdh7
|
UTSW |
5 |
57719904 |
missense |
probably damaging |
1.00 |
|
R7707:Pcdh7
|
UTSW |
5 |
57720330 |
missense |
probably damaging |
0.99 |
|
R7734:Pcdh7
|
UTSW |
5 |
57719634 |
missense |
probably damaging |
0.99 |
|
R7899:Pcdh7
|
UTSW |
5 |
57719810 |
missense |
probably benign |
|
|
R7982:Pcdh7
|
UTSW |
5 |
57719810 |
missense |
probably benign |
|
|
X0021:Pcdh7
|
UTSW |
5 |
57721484 |
missense |
possibly damaging |
0.95 |
|
X0026:Pcdh7
|
UTSW |
5 |
57719379 |
missense |
probably damaging |
1.00 |
|
|---|
| Posted On | 2013-04-17 |
|---|
