Incidental Mutation 'R2147:Pcdh7'
ID |
233902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh7
|
Ensembl Gene |
ENSMUSG00000029108 |
Gene Name |
protocadherin 7 |
Synonyms |
BH-protocadherin |
MMRRC Submission |
040150-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2147 (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 A
at 58286458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1178
(M1178K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094783]
[ENSMUST00000191837]
|
AlphaFold |
A0A0A6YY83 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094783
AA Change: M1170K
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092376 Gene: ENSMUSG00000029108 AA Change: M1170K
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 |
possibly damaging
Transcript: ENSMUST00000191837
AA Change: M1178K
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142319 Gene: ENSMUSG00000029108 AA Change: M1178K
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200369
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
A |
1: 159,903,003 (GRCm39) |
M91K |
probably benign |
Het |
Abr |
T |
C |
11: 76,346,474 (GRCm39) |
R437G |
probably damaging |
Het |
Acaca |
T |
G |
11: 84,167,362 (GRCm39) |
D1045E |
probably benign |
Het |
Adam23 |
A |
T |
1: 63,573,521 (GRCm39) |
|
probably null |
Het |
Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
Alg11 |
G |
A |
8: 22,555,309 (GRCm39) |
G108D |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,210,771 (GRCm39) |
I316N |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,408,677 (GRCm39) |
F1943L |
unknown |
Het |
Armh4 |
T |
C |
14: 49,989,028 (GRCm39) |
D647G |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
BC035044 |
T |
C |
6: 128,867,867 (GRCm39) |
|
probably benign |
Het |
Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Ccnf |
A |
T |
17: 24,449,288 (GRCm39) |
|
probably null |
Het |
Cdadc1 |
A |
G |
14: 59,835,202 (GRCm39) |
|
probably null |
Het |
Cep57l1 |
A |
G |
10: 41,616,895 (GRCm39) |
Y131H |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,394,254 (GRCm39) |
V381A |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,272,047 (GRCm39) |
R1267G |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,854 (GRCm39) |
L1658Q |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
Chpf2 |
T |
A |
5: 24,797,033 (GRCm39) |
F660I |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,717,015 (GRCm39) |
D302E |
probably benign |
Het |
Cpne3 |
T |
A |
4: 19,536,562 (GRCm39) |
M233L |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dennd3 |
T |
G |
15: 73,395,336 (GRCm39) |
L143R |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
Ergic1 |
A |
G |
17: 26,855,024 (GRCm39) |
|
probably null |
Het |
Fbxl15 |
A |
T |
19: 46,317,627 (GRCm39) |
D103V |
probably damaging |
Het |
Gm4781 |
C |
A |
10: 100,232,414 (GRCm39) |
|
noncoding transcript |
Het |
Hpca |
A |
G |
4: 129,012,278 (GRCm39) |
I86T |
possibly damaging |
Het |
Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
Lipe |
G |
T |
7: 25,087,946 (GRCm39) |
A38E |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,935,159 (GRCm39) |
|
probably null |
Het |
Lrsam1 |
T |
C |
2: 32,835,891 (GRCm39) |
K292R |
probably damaging |
Het |
Mbtps1 |
A |
T |
8: 120,265,598 (GRCm39) |
H316Q |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,580,063 (GRCm39) |
Y525* |
probably null |
Het |
Mrps14 |
T |
C |
1: 160,022,862 (GRCm39) |
L9P |
possibly damaging |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,401,055 (GRCm39) |
D2992G |
possibly damaging |
Het |
N4bp2 |
T |
A |
5: 65,966,543 (GRCm39) |
L1327Q |
probably damaging |
Het |
Nradd |
A |
T |
9: 110,451,243 (GRCm39) |
F42I |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,842 (GRCm39) |
I77F |
probably damaging |
Het |
Pank1 |
T |
C |
19: 34,804,754 (GRCm39) |
H134R |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,717,633 (GRCm39) |
I1084N |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,958,165 (GRCm39) |
K950E |
unknown |
Het |
Pitpnc1 |
C |
T |
11: 107,103,344 (GRCm39) |
A252T |
probably damaging |
Het |
Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,357 (GRCm39) |
I231V |
probably benign |
Het |
Scin |
T |
A |
12: 40,130,984 (GRCm39) |
M310L |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,483 (GRCm39) |
I50N |
probably benign |
Het |
Skint8 |
C |
G |
4: 111,794,274 (GRCm39) |
N221K |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,366,990 (GRCm39) |
V673M |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,929,361 (GRCm39) |
D368G |
probably damaging |
Het |
Slc28a1 |
A |
T |
7: 80,776,015 (GRCm39) |
Q237L |
possibly damaging |
Het |
Smchd1 |
T |
A |
17: 71,705,583 (GRCm39) |
K1005N |
possibly damaging |
Het |
Stim2 |
T |
C |
5: 54,262,717 (GRCm39) |
Y320H |
probably damaging |
Het |
Syne3 |
T |
A |
12: 104,919,357 (GRCm39) |
D512V |
probably damaging |
Het |
Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
Tcp10a |
T |
C |
17: 7,601,701 (GRCm39) |
S216P |
probably damaging |
Het |
Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
Tmem236 |
A |
G |
2: 14,223,861 (GRCm39) |
I217V |
probably benign |
Het |
Tmem45b |
A |
G |
9: 31,340,277 (GRCm39) |
V128A |
probably benign |
Het |
Tnfaip2 |
T |
C |
12: 111,412,456 (GRCm39) |
Y286H |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,840,116 (GRCm39) |
I427L |
possibly damaging |
Het |
Ttc17 |
T |
A |
2: 94,132,139 (GRCm39) |
N1180I |
possibly damaging |
Het |
Ubr1 |
T |
G |
2: 120,694,811 (GRCm39) |
D1707A |
probably damaging |
Het |
Vmn1r11 |
A |
G |
6: 57,114,583 (GRCm39) |
I82M |
probably benign |
Het |
Vmn2r129 |
T |
C |
4: 156,687,014 (GRCm39) |
|
noncoding transcript |
Het |
Vps41 |
G |
T |
13: 19,023,904 (GRCm39) |
|
probably null |
Het |
Wnt5a |
A |
G |
14: 28,235,274 (GRCm39) |
Y86C |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,209,616 (GRCm39) |
H731R |
probably damaging |
Het |
Zfp712 |
T |
C |
13: 67,189,960 (GRCm39) |
E189G |
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 |
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 |
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'- ATGGATCAGCAAAGTCTGTTGG -3'
(R):5'- GGAGATGGCTTATATTCCCCTG -3'
Sequencing Primer
(F):5'- CAGCAAAGTCTGTTGGTGCATG -3'
(R):5'- CCCCTGTTTTTGTTAAAGGAATATCC -3'
|
Posted On |
2014-10-01 |