Incidental Mutation 'R5917:Pcdh7'
| ID |
461386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh7
|
| Ensembl Gene |
ENSMUSG00000029108 |
| Gene Name |
protocadherin 7 |
| Synonyms |
BH-protocadherin |
| MMRRC Submission |
044114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5917 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
57875309-58290572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57879097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 884
(V884A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068110]
[ENSMUST00000094783]
[ENSMUST00000191837]
[ENSMUST00000199310]
|
| AlphaFold |
A0A0A6YY83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068110
AA Change: V884A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: V884A
| 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: V884A
|
| SMART Domains |
Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: V884A
| 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: V884A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: V884A
| 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: V544A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193156
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195156
AA Change: V198A
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
| Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
| Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
| Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
| Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
| Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
| Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
| Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
| Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
| Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
| Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
| Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
| Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
| P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
| Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
| Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
| Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
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'- TTGTGCAAGTGAATGACAGTGG -3'
(R):5'- GATACTGCTGTAGAGTGGCTGC -3'
Sequencing Primer
(F):5'- AATGACAGTGGCCAGCCTTC -3'
(R):5'- GGGGTGTAAAAAAGTCCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation