Incidental Mutation 'R4773:Pcdha8'
| ID |
367724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha8
|
| Ensembl Gene |
ENSMUSG00000103800 |
| Gene Name |
protocadherin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
042411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4773 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37125520-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37127626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 703
(A703S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000193839]
[ENSMUST00000193389]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000192631]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
CA
|
75 |
161 |
2.46e-2 |
SMART |
|
CA
|
185 |
270 |
8.1e-20 |
SMART |
|
CA
|
294 |
378 |
1.69e-22 |
SMART |
|
CA
|
402 |
483 |
1.52e-24 |
SMART |
|
CA
|
507 |
593 |
5.68e-24 |
SMART |
|
CA
|
624 |
705 |
6.69e-12 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194038
AA Change: A703S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: A703S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
2.04e-25 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
9.88e-24 |
SMART |
|
CA
|
594 |
676 |
8.62e-15 |
SMART |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
| SMART Domains |
Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.58e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
1.42e-24 |
SMART |
|
CA
|
372 |
453 |
9.36e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
671 |
4.03e-6 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4044 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (89/89) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
A |
G |
11: 50,982,089 (GRCm39) |
|
noncoding transcript |
Het |
| Actl7b |
T |
C |
4: 56,740,972 (GRCm39) |
I129V |
probably benign |
Het |
| Adipor2 |
A |
G |
6: 119,336,047 (GRCm39) |
L225P |
probably benign |
Het |
| Arhgap25 |
A |
G |
6: 87,473,053 (GRCm39) |
F35L |
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,258 (GRCm39) |
M138K |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,905 (GRCm39) |
M1486K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,572,658 (GRCm39) |
S114R |
probably benign |
Het |
| Brpf3 |
T |
G |
17: 29,040,233 (GRCm39) |
S885A |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,302,298 (GRCm39) |
H1944N |
possibly damaging |
Het |
| Cby2 |
T |
A |
14: 75,820,546 (GRCm39) |
Y393F |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,396,245 (GRCm39) |
C712Y |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,182,822 (GRCm39) |
I399N |
probably damaging |
Het |
| Cct8l1 |
A |
T |
5: 25,722,754 (GRCm39) |
T490S |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,932,787 (GRCm39) |
N371D |
probably damaging |
Het |
| Cpeb1 |
A |
T |
7: 81,005,695 (GRCm39) |
H381Q |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,763 (GRCm39) |
I81F |
possibly damaging |
Het |
| Dscc1 |
A |
T |
15: 54,943,654 (GRCm39) |
D405E |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,672,464 (GRCm39) |
D369G |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,592 (GRCm39) |
V17A |
possibly damaging |
Het |
| Fam111a |
A |
T |
19: 12,565,772 (GRCm39) |
N507I |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,445,038 (GRCm39) |
V719A |
possibly damaging |
Het |
| Fscb |
C |
T |
12: 64,520,464 (GRCm39) |
G334D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,043,782 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,119,072 (GRCm39) |
Y180* |
probably null |
Het |
| Grip2 |
G |
A |
6: 91,759,413 (GRCm39) |
P347L |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,576 (GRCm39) |
S105P |
probably damaging |
Het |
| H60b |
C |
T |
10: 22,164,644 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,596 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
C |
2: 71,652,788 (GRCm39) |
V217A |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,503,946 (GRCm39) |
W1083* |
probably null |
Het |
| Limch1 |
A |
T |
5: 67,184,850 (GRCm39) |
D613V |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,349,403 (GRCm39) |
C310S |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,876 (GRCm39) |
C220S |
probably benign |
Het |
| Mbd5 |
A |
C |
2: 49,164,623 (GRCm39) |
H308P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,167,746 (GRCm39) |
D2003G |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mstn |
A |
T |
1: 53,101,267 (GRCm39) |
T115S |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,872,489 (GRCm39) |
Q953K |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,050 (GRCm39) |
S285P |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,440,742 (GRCm39) |
N74K |
probably benign |
Het |
| Or10j3 |
A |
C |
1: 173,031,796 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,733,502 (GRCm39) |
S262P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,552,026 (GRCm39) |
V321A |
probably benign |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,507 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,979,051 (GRCm39) |
D51G |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,289,292 (GRCm39) |
Y703H |
probably damaging |
Het |
| Pecr |
G |
T |
1: 72,306,594 (GRCm39) |
P229Q |
probably damaging |
Het |
| Phkg1 |
G |
T |
5: 129,902,114 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,051,150 (GRCm39) |
H356Q |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,947,248 (GRCm39) |
I191T |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,026 (GRCm39) |
L35P |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,470 (GRCm39) |
G792D |
probably benign |
Het |
| Rps11-ps4 |
T |
C |
12: 51,344,406 (GRCm39) |
|
noncoding transcript |
Het |
| Sema3g |
A |
G |
14: 30,942,666 (GRCm39) |
D89G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,908,219 (GRCm39) |
V108A |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,107,019 (GRCm39) |
M221K |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,660 (GRCm39) |
S1304P |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,189,688 (GRCm39) |
A110E |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,743,235 (GRCm39) |
Q1154* |
probably null |
Het |
| Taf4b |
A |
G |
18: 14,937,577 (GRCm39) |
T217A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,072,760 (GRCm39) |
V2769A |
probably benign |
Het |
| Tmem156 |
A |
T |
5: 65,237,502 (GRCm39) |
C53S |
probably damaging |
Het |
| Tmtc3 |
T |
A |
10: 100,293,001 (GRCm39) |
K452N |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,306,376 (GRCm39) |
E195G |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,609,852 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,606 (GRCm39) |
T93I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,778 (GRCm39) |
N26372Y |
probably damaging |
Het |
| Tubd1 |
T |
C |
11: 86,446,128 (GRCm39) |
L256P |
possibly damaging |
Het |
| Txnrd2 |
C |
G |
16: 18,259,569 (GRCm39) |
A126G |
probably benign |
Het |
| Vmn1r210 |
T |
G |
13: 23,011,374 (GRCm39) |
K304T |
probably benign |
Het |
| Vps25 |
T |
C |
11: 101,149,655 (GRCm39) |
S160P |
probably benign |
Het |
| Vrk3 |
T |
A |
7: 44,424,900 (GRCm39) |
D438E |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,309,066 (GRCm39) |
L708P |
probably benign |
Het |
| Washc3 |
C |
T |
10: 88,055,124 (GRCm39) |
Q105* |
probably null |
Het |
| Wdr83os |
T |
A |
8: 85,807,410 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,758,123 (GRCm39) |
H741R |
probably benign |
Het |
| Zan |
T |
C |
5: 137,434,575 (GRCm39) |
|
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,311,931 (GRCm39) |
L14I |
possibly damaging |
Het |
| Zfp568 |
T |
A |
7: 29,697,195 (GRCm39) |
D38E |
probably damaging |
Het |
|
| Other mutations in Pcdha8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0751:Pcdha8
|
UTSW |
18 |
37,127,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3416:Pcdha8
|
UTSW |
18 |
37,125,683 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3755:Pcdha8
|
UTSW |
18 |
37,126,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Pcdha8
|
UTSW |
18 |
37,126,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Pcdha8
|
UTSW |
18 |
37,126,624 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3882:Pcdha8
|
UTSW |
18 |
37,126,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4036:Pcdha8
|
UTSW |
18 |
37,125,914 (GRCm39) |
missense |
probably benign |
|
|
R4038:Pcdha8
|
UTSW |
18 |
37,125,914 (GRCm39) |
missense |
probably benign |
|
|
R4204:Pcdha8
|
UTSW |
18 |
37,127,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Pcdha8
|
UTSW |
18 |
37,125,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Pcdha8
|
UTSW |
18 |
37,126,611 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5124:Pcdha8
|
UTSW |
18 |
37,126,768 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5396:Pcdha8
|
UTSW |
18 |
37,126,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5435:Pcdha8
|
UTSW |
18 |
37,126,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Pcdha8
|
UTSW |
18 |
37,126,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5896:Pcdha8
|
UTSW |
18 |
37,126,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6277:Pcdha8
|
UTSW |
18 |
37,127,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6415:Pcdha8
|
UTSW |
18 |
37,127,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Pcdha8
|
UTSW |
18 |
37,125,581 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6641:Pcdha8
|
UTSW |
18 |
37,126,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Pcdha8
|
UTSW |
18 |
37,127,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6807:Pcdha8
|
UTSW |
18 |
37,127,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7120:Pcdha8
|
UTSW |
18 |
37,126,840 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7223:Pcdha8
|
UTSW |
18 |
37,126,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7358:Pcdha8
|
UTSW |
18 |
37,125,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Pcdha8
|
UTSW |
18 |
37,126,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Pcdha8
|
UTSW |
18 |
37,125,737 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7883:Pcdha8
|
UTSW |
18 |
37,126,196 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8150:Pcdha8
|
UTSW |
18 |
37,126,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Pcdha8
|
UTSW |
18 |
37,127,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8705:Pcdha8
|
UTSW |
18 |
37,126,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Pcdha8
|
UTSW |
18 |
37,127,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8956:Pcdha8
|
UTSW |
18 |
37,126,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9068:Pcdha8
|
UTSW |
18 |
37,127,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Pcdha8
|
UTSW |
18 |
37,126,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9241:Pcdha8
|
UTSW |
18 |
37,127,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Pcdha8
|
UTSW |
18 |
37,126,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Pcdha8
|
UTSW |
18 |
37,126,843 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9512:Pcdha8
|
UTSW |
18 |
37,126,624 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9550:Pcdha8
|
UTSW |
18 |
37,127,399 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9607:Pcdha8
|
UTSW |
18 |
37,126,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Pcdha8
|
UTSW |
18 |
37,125,548 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGTGCTGGTAAAGGAC -3'
(R):5'- CAGATGGTTCTGCAGATCCAGG -3'
Sequencing Primer
(F):5'- TAAAGGACCACGGTGAGCCTC -3'
(R):5'- TTCTGCAGATCCAGGACATG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation