Incidental Mutation 'R8990:Pcdh7'
ID |
684345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh7
|
Ensembl Gene |
ENSMUSG00000029108 |
Gene Name |
protocadherin 7 |
Synonyms |
BH-protocadherin |
MMRRC Submission |
068822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R8990 (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 57879364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 973
(D973G)
|
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: D973G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066306 Gene: ENSMUSG00000029108 AA Change: D973G
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: D973G
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: D973G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000142319 Gene: ENSMUSG00000029108 AA Change: D973G
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 |
|
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (57/58) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,104,494 (GRCm39) |
V731M |
|
Het |
Ank2 |
A |
G |
3: 126,841,829 (GRCm39) |
|
probably null |
Het |
Ano8 |
G |
C |
8: 71,929,201 (GRCm39) |
P1004R |
unknown |
Het |
Aopep |
G |
A |
13: 63,304,428 (GRCm39) |
C480Y |
probably damaging |
Het |
Asnsd1 |
C |
T |
1: 53,385,901 (GRCm39) |
G491D |
probably damaging |
Het |
Atp6v1c2 |
A |
G |
12: 17,341,647 (GRCm39) |
V248A |
probably benign |
Het |
BC035947 |
C |
T |
1: 78,475,486 (GRCm39) |
V349M |
probably damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,400,630 (GRCm39) |
D17G |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,975,370 (GRCm39) |
S681P |
possibly damaging |
Het |
Cbs |
T |
C |
17: 31,834,523 (GRCm39) |
T489A |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,208,655 (GRCm39) |
K533R |
probably benign |
Het |
Cenpx |
A |
G |
11: 120,602,591 (GRCm39) |
F53S |
unknown |
Het |
Col4a4 |
A |
G |
1: 82,473,555 (GRCm39) |
S657P |
unknown |
Het |
Csnk2a1 |
A |
G |
2: 152,096,177 (GRCm39) |
Y50C |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,427,168 (GRCm39) |
R748* |
probably null |
Het |
Diaph1 |
A |
T |
18: 37,988,857 (GRCm39) |
L959H |
probably damaging |
Het |
Dnaaf5 |
T |
G |
5: 139,155,951 (GRCm39) |
L544R |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,814,057 (GRCm39) |
D399G |
|
Het |
Eif2b4 |
T |
C |
5: 31,347,971 (GRCm39) |
E247G |
probably benign |
Het |
Fmnl2 |
T |
C |
2: 53,016,971 (GRCm39) |
I1050T |
unknown |
Het |
Gm10272 |
T |
A |
10: 77,542,658 (GRCm39) |
S67T |
probably damaging |
Het |
Gm32742 |
G |
A |
9: 51,058,802 (GRCm39) |
P1072S |
probably damaging |
Het |
Hdac11 |
T |
A |
6: 91,145,799 (GRCm39) |
L151* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,841,752 (GRCm39) |
D80G |
possibly damaging |
Het |
Kazn |
T |
C |
4: 141,868,947 (GRCm39) |
D413G |
probably damaging |
Het |
Kcnc1 |
T |
A |
7: 46,077,733 (GRCm39) |
*512R |
probably null |
Het |
Kcnf1 |
G |
A |
12: 17,225,336 (GRCm39) |
T295I |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,640,205 (GRCm39) |
V12A |
probably benign |
Het |
Klk6 |
T |
A |
7: 43,476,254 (GRCm39) |
H31Q |
probably benign |
Het |
Ldhal6b |
A |
T |
17: 5,468,020 (GRCm39) |
S305T |
probably damaging |
Het |
Lta4h |
C |
A |
10: 93,314,315 (GRCm39) |
D462E |
probably damaging |
Het |
Ly75 |
T |
G |
2: 60,188,903 (GRCm39) |
R274S |
probably benign |
Het |
Mideas |
T |
C |
12: 84,218,380 (GRCm39) |
T527A |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,566,381 (GRCm39) |
N117S |
possibly damaging |
Het |
Mrgprd |
T |
C |
7: 144,875,915 (GRCm39) |
V262A |
probably benign |
Het |
Mtres1 |
A |
G |
10: 43,401,233 (GRCm39) |
S239P |
unknown |
Het |
Muc4 |
C |
A |
16: 32,574,009 (GRCm39) |
H696N |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,439,584 (GRCm39) |
Q387L |
probably damaging |
Het |
Nme7 |
A |
G |
1: 164,155,902 (GRCm39) |
D34G |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,007,988 (GRCm39) |
L250* |
probably null |
Het |
Or13p8 |
T |
C |
4: 118,584,224 (GRCm39) |
V260A |
probably benign |
Het |
Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
Pced1a |
A |
G |
2: 130,264,471 (GRCm39) |
Y120H |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,824,273 (GRCm39) |
T627S |
unknown |
Het |
Pkhd1 |
A |
G |
1: 20,417,529 (GRCm39) |
S2541P |
probably benign |
Het |
Ptcd1 |
A |
G |
5: 145,102,047 (GRCm39) |
S91P |
probably damaging |
Het |
R3hdm1 |
C |
T |
1: 128,106,833 (GRCm39) |
R229C |
probably damaging |
Het |
Sectm1a |
G |
T |
11: 120,960,701 (GRCm39) |
T38K |
probably damaging |
Het |
Serpinb2 |
A |
T |
1: 107,450,428 (GRCm39) |
I142F |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,895 (GRCm39) |
V112E |
possibly damaging |
Het |
Snap23 |
G |
T |
2: 120,415,516 (GRCm39) |
|
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,122 (GRCm39) |
Y326N |
possibly damaging |
Het |
Speer4c2 |
G |
A |
5: 15,858,598 (GRCm39) |
R141C |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
Trpc2 |
T |
C |
7: 101,745,195 (GRCm39) |
Y804H |
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,952,485 (GRCm39) |
N562S |
possibly damaging |
Het |
Trpm6 |
G |
A |
19: 18,792,799 (GRCm39) |
G741E |
probably damaging |
Het |
Vmn1r160 |
T |
A |
7: 22,570,759 (GRCm39) |
H37Q |
probably damaging |
Het |
Vmn1r174 |
G |
T |
7: 23,453,956 (GRCm39) |
M207I |
possibly damaging |
Het |
Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
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 |
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'- GATGGCAAGATACTGCAGGTC -3'
(R):5'- TCCCACAAATGTGTTGGCTG -3'
Sequencing Primer
(F):5'- CTGCAGGTCCAAAAATAAAAATGGC -3'
(R):5'- CTGGTGGTAGATCTTGTACAGC -3'
|
Posted On |
2021-10-11 |