Incidental Mutation 'R9264:Pcdh7'
| ID |
702414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh7
|
| Ensembl Gene |
ENSMUSG00000029108 |
| Gene Name |
protocadherin 7 |
| Synonyms |
BH-protocadherin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
57875309-58290572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58286663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1246
(N1246K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094783]
[ENSMUST00000191837]
|
| AlphaFold |
A0A0A6YY83 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: N1238K
| 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: N1246K
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N1246K
| 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: ENSMUST00000195156
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 120,001,056 (GRCm39) |
I1531L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,844,914 (GRCm39) |
Y791C |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,229,187 (GRCm39) |
I262N |
probably damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,397,613 (GRCm39) |
N1033K |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,333,878 (GRCm39) |
V310A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,951,830 (GRCm39) |
Y325C |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,436,727 (GRCm39) |
D197V |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,005,809 (GRCm39) |
I1647T |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cspg4b |
G |
A |
13: 113,456,014 (GRCm39) |
V687M |
|
Het |
| Cyp4a10 |
T |
C |
4: 115,381,475 (GRCm39) |
S180P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,173 (GRCm39) |
I1336V |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,177,784 (GRCm39) |
V946M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,813,900 (GRCm39) |
R347G |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,262 (GRCm39) |
D2368V |
probably damaging |
Het |
| Ganab |
T |
C |
19: 8,890,228 (GRCm39) |
I719T |
possibly damaging |
Het |
| Gm10944 |
C |
A |
10: 10,557,583 (GRCm39) |
A11D |
unknown |
Het |
| Gmcl1 |
T |
C |
6: 86,691,195 (GRCm39) |
M267V |
probably benign |
Het |
| Inhbe |
T |
A |
10: 127,186,427 (GRCm39) |
D251V |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,654 (GRCm39) |
R26Q |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,271 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,494,912 (GRCm39) |
D251E |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,028,344 (GRCm39) |
I416N |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,560,057 (GRCm39) |
N772S |
probably damaging |
Het |
| Ms4a20 |
T |
A |
19: 11,093,830 (GRCm39) |
M1L |
probably benign |
Het |
| Msh3 |
G |
T |
13: 92,485,812 (GRCm39) |
Q171K |
probably benign |
Het |
| Mslnl |
T |
G |
17: 25,961,506 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,489,176 (GRCm39) |
L116P |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,454 (GRCm39) |
T1351A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,274,998 (GRCm39) |
I353N |
probably damaging |
Het |
| Nprl3 |
A |
T |
11: 32,183,948 (GRCm39) |
N500K |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,019,348 (GRCm39) |
I181N |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,978 (GRCm39) |
I41V |
probably benign |
Het |
| Or1b1 |
G |
A |
2: 36,994,801 (GRCm39) |
T287I |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,776 (GRCm39) |
H152R |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,166 (GRCm39) |
D377E |
probably benign |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,520,899 (GRCm39) |
T587A |
probably benign |
Het |
| Pramel1 |
T |
G |
4: 143,125,099 (GRCm39) |
L341R |
probably damaging |
Het |
| Rhot2 |
A |
T |
17: 26,060,740 (GRCm39) |
N210K |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,519,459 (GRCm39) |
I12V |
probably benign |
Het |
| Spmip7 |
T |
A |
11: 11,414,678 (GRCm39) |
D141E |
|
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,955 (GRCm39) |
V511A |
probably benign |
Het |
| Stfa1 |
G |
A |
16: 36,100,930 (GRCm39) |
V57I |
unknown |
Het |
| Syne1 |
T |
G |
10: 5,212,793 (GRCm39) |
R3265S |
probably damaging |
Het |
| Tacc2 |
G |
T |
7: 130,228,533 (GRCm39) |
K1739N |
probably damaging |
Het |
| Tas2r143 |
A |
T |
6: 42,377,673 (GRCm39) |
M168L |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,031 (GRCm39) |
|
probably null |
Het |
| Ttc16 |
A |
G |
2: 32,653,017 (GRCm39) |
I604T |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,393 (GRCm39) |
W64R |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,439,064 (GRCm39) |
H3561L |
|
Het |
| Vasp |
C |
T |
7: 18,993,376 (GRCm39) |
V276I |
unknown |
Het |
| Vwa3a |
A |
G |
7: 120,374,687 (GRCm39) |
N333S |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,460,866 (GRCm39) |
N105D |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,942,663 (GRCm39) |
S613P |
possibly 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 |
|
R8990:Pcdh7
|
UTSW |
5 |
57,879,364 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TGTTGATGAACGAGGAAGCC -3'
(R):5'- GTACACTGTCATCAGGCAAACAG -3'
Sequencing Primer
(F):5'- GCCAGGAAAAGCTGGCC -3'
(R):5'- CAGTAACACTAAAGGCCTGATTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation