Incidental Mutation 'R9272:Pcdh7'
ID |
703011 |
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: 0.141)
|
Stock # |
R9272 (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 57878779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 778
(D778G)
|
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: D778G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000066306 Gene: ENSMUSG00000029108 AA Change: D778G
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: D778G
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: D778G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142319 Gene: ENSMUSG00000029108 AA Change: D778G
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
G |
6: 146,854,499 (GRCm39) |
V181A |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,076,993 (GRCm39) |
D686E |
probably benign |
Het |
Abca8a |
C |
A |
11: 109,953,908 (GRCm39) |
C844F |
probably damaging |
Het |
Acd |
G |
A |
8: 106,424,952 (GRCm39) |
P396L |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,189,753 (GRCm39) |
Y659C |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,413,875 (GRCm39) |
V167M |
probably benign |
Het |
Ankrd13c |
T |
A |
3: 157,700,358 (GRCm39) |
L393Q |
possibly damaging |
Het |
Arid1b |
G |
A |
17: 5,386,879 (GRCm39) |
G1391D |
possibly damaging |
Het |
Arid5b |
T |
A |
10: 67,937,882 (GRCm39) |
D415V |
probably damaging |
Het |
Arl13b |
G |
T |
16: 62,647,774 (GRCm39) |
H45N |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,268,797 (GRCm39) |
I519N |
|
Het |
Atrnl1 |
T |
C |
19: 57,643,420 (GRCm39) |
I436T |
probably benign |
Het |
Bbx |
A |
G |
16: 50,022,935 (GRCm39) |
I675T |
probably damaging |
Het |
Bcas1 |
A |
T |
2: 170,190,040 (GRCm39) |
V619E |
probably damaging |
Het |
Cad |
T |
C |
5: 31,218,576 (GRCm39) |
V501A |
possibly damaging |
Het |
Car8 |
T |
A |
4: 8,169,686 (GRCm39) |
N274I |
probably damaging |
Het |
Ccdc3 |
A |
G |
2: 5,146,143 (GRCm39) |
Q159R |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,893,459 (GRCm39) |
E95D |
possibly damaging |
Het |
Cdh12 |
G |
T |
15: 21,492,801 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
T |
3: 113,901,948 (GRCm39) |
G548* |
probably null |
Het |
Cpb2 |
A |
G |
14: 75,520,803 (GRCm39) |
E406G |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,132 (GRCm39) |
S1723G |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,206,045 (GRCm39) |
V262A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,311,404 (GRCm39) |
N1772K |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,774,569 (GRCm39) |
M62K |
probably benign |
Het |
Dok7 |
G |
A |
5: 35,214,239 (GRCm39) |
|
probably benign |
Het |
E2f3 |
A |
G |
13: 30,102,629 (GRCm39) |
Y211H |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,460,699 (GRCm39) |
Y207H |
probably damaging |
Het |
Fam53c |
T |
A |
18: 34,895,774 (GRCm39) |
S25R |
probably damaging |
Het |
Fhod3 |
T |
G |
18: 25,030,681 (GRCm39) |
|
probably benign |
Het |
Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
Ggt1 |
A |
T |
10: 75,421,749 (GRCm39) |
H532L |
probably benign |
Het |
Gm10775 |
A |
C |
13: 65,407,770 (GRCm39) |
T24P |
unknown |
Het |
Hinfp |
A |
G |
9: 44,213,872 (GRCm39) |
S2P |
probably benign |
Het |
Hs3st4 |
A |
G |
7: 123,582,749 (GRCm39) |
T116A |
probably benign |
Het |
Ighv5-9-1 |
A |
T |
12: 113,699,818 (GRCm39) |
I98N |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 107,046,713 (GRCm39) |
Y171N |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,161,838 (GRCm39) |
A275S |
probably damaging |
Het |
Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
Kcnh7 |
A |
T |
2: 62,618,097 (GRCm39) |
I464K |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,717,158 (GRCm39) |
P603T |
probably benign |
Het |
Man1c1 |
C |
A |
4: 134,291,118 (GRCm39) |
D593Y |
probably damaging |
Het |
Mdm4 |
A |
T |
1: 132,929,169 (GRCm39) |
I176K |
possibly damaging |
Het |
Mpo |
T |
C |
11: 87,686,693 (GRCm39) |
V139A |
probably benign |
Het |
Niban3 |
A |
C |
8: 72,055,520 (GRCm39) |
D310A |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Or1f12 |
A |
G |
13: 21,721,864 (GRCm39) |
S89P |
possibly damaging |
Het |
Or4k51 |
G |
A |
2: 111,584,965 (GRCm39) |
V124M |
probably damaging |
Het |
Or9g4b |
A |
T |
2: 85,616,088 (GRCm39) |
I78L |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,675 (GRCm39) |
F607S |
probably damaging |
Het |
Pcolce |
A |
G |
5: 137,606,333 (GRCm39) |
F157L |
probably benign |
Het |
Pogk |
T |
C |
1: 166,226,780 (GRCm39) |
Y457C |
probably damaging |
Het |
Ppp1r21 |
G |
A |
17: 88,866,086 (GRCm39) |
E323K |
possibly damaging |
Het |
Prkn |
T |
A |
17: 11,456,527 (GRCm39) |
V117E |
probably damaging |
Het |
Prr12 |
A |
C |
7: 44,692,811 (GRCm39) |
F1574V |
probably damaging |
Het |
Rasl2-9 |
A |
T |
7: 5,128,448 (GRCm39) |
F161I |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,517,602 (GRCm39) |
I268T |
possibly damaging |
Het |
Rin3 |
A |
T |
12: 102,335,691 (GRCm39) |
D534V |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,315,717 (GRCm39) |
G1664S |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,471,168 (GRCm39) |
S372P |
probably benign |
Het |
Snx32 |
T |
A |
19: 5,548,485 (GRCm39) |
H65L |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,855,544 (GRCm39) |
I324F |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,867,298 (GRCm39) |
F1687L |
probably benign |
Het |
Taar6 |
T |
C |
10: 23,860,903 (GRCm39) |
I214M |
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,447,685 (GRCm39) |
N380Y |
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 |
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 |
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'- GGGAACATCAGACTACGTACAC -3'
(R):5'- CACCAAAGTCGTAGTGGACTG -3'
Sequencing Primer
(F):5'- TCAGACTACGTACACTTTCAGAG -3'
(R):5'- TCGTAGTGGACTGGGAAGGC -3'
|
Posted On |
2022-03-25 |