Incidental Mutation 'R7883:Pcdha8'
| ID |
608920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha8
|
| Ensembl Gene |
ENSMUSG00000103800 |
| Gene Name |
protocadherin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
045935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R7883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37125520-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37126196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 226
(V226D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194544]
[ENSMUST00000194751]
[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: V226D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: V226D
| 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 |
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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (79/80) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110065P20Rik |
A |
T |
4: 124,744,440 (GRCm39) |
W5R |
unknown |
Het |
| Abcb6 |
A |
T |
1: 75,154,660 (GRCm39) |
S258R |
possibly damaging |
Het |
| Abcc10 |
A |
G |
17: 46,618,027 (GRCm39) |
V1082A |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,447 (GRCm39) |
V126A |
probably damaging |
Het |
| Apol11a |
A |
G |
15: 77,400,774 (GRCm39) |
E87G |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,863,423 (GRCm39) |
C755* |
probably null |
Het |
| Arl13b |
A |
T |
16: 62,647,629 (GRCm39) |
I93K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,406,405 (GRCm39) |
K1764R |
possibly damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,342,471 (GRCm39) |
I381V |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,940,180 (GRCm39) |
H985R |
possibly damaging |
Het |
| Bms1 |
G |
T |
6: 118,365,735 (GRCm39) |
N1150K |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,566,037 (GRCm39) |
D749G |
probably damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,454,978 (GRCm39) |
A274V |
possibly damaging |
Het |
| Chd7 |
A |
G |
4: 8,826,504 (GRCm39) |
N956S |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,613,438 (GRCm39) |
|
probably null |
Het |
| Cttn |
C |
T |
7: 143,999,555 (GRCm39) |
V338I |
probably benign |
Het |
| Dab2ip |
G |
A |
2: 35,610,218 (GRCm39) |
G811D |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,190,397 (GRCm39) |
T106A |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,005,566 (GRCm39) |
E3768G |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,709,229 (GRCm39) |
D612E |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,190 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
A |
3: 39,035,968 (GRCm39) |
E3207K |
probably damaging |
Het |
| Fbxw18 |
A |
G |
9: 109,517,474 (GRCm39) |
Y410H |
probably damaging |
Het |
| Fgfr3 |
T |
A |
5: 33,891,235 (GRCm39) |
S518T |
probably damaging |
Het |
| Fzr1 |
G |
A |
10: 81,204,469 (GRCm39) |
T377M |
probably damaging |
Het |
| Gcnt3 |
T |
A |
9: 69,941,453 (GRCm39) |
I372F |
probably damaging |
Het |
| Gm10577 |
A |
T |
4: 100,877,719 (GRCm39) |
Y59N |
unknown |
Het |
| Gm826 |
A |
G |
2: 160,169,213 (GRCm39) |
L32P |
unknown |
Het |
| Grid1 |
T |
G |
14: 35,172,259 (GRCm39) |
|
probably null |
Het |
| Hid1 |
T |
A |
11: 115,245,435 (GRCm39) |
T457S |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,529,456 (GRCm39) |
V58A |
probably benign |
Het |
| Iqcj |
A |
G |
3: 67,954,641 (GRCm39) |
K49E |
probably damaging |
Het |
| Itpk1 |
A |
G |
12: 102,572,434 (GRCm39) |
V93A |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,450,888 (GRCm39) |
I722M |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,601,217 (GRCm39) |
V412A |
possibly damaging |
Het |
| Krt18 |
G |
A |
15: 101,936,885 (GRCm39) |
V58M |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,934,657 (GRCm39) |
Y691C |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,555,141 (GRCm39) |
I4095N |
|
Het |
| Map1a |
A |
G |
2: 121,135,853 (GRCm39) |
E2223G |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,541,232 (GRCm39) |
F94L |
possibly damaging |
Het |
| Mertk |
A |
G |
2: 128,618,265 (GRCm39) |
I499V |
probably benign |
Het |
| Mrps12 |
A |
G |
7: 28,439,568 (GRCm39) |
L49P |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,393,754 (GRCm39) |
V339D |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,960,835 (GRCm39) |
Q3159* |
probably null |
Het |
| Patj |
G |
A |
4: 98,499,372 (GRCm39) |
V1349I |
probably benign |
Het |
| Pdgfd |
T |
A |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pdzd7 |
A |
C |
19: 45,018,679 (GRCm39) |
I600S |
probably damaging |
Het |
| Pgpep1l |
G |
A |
7: 67,888,897 (GRCm39) |
R45* |
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,407,416 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,392,522 (GRCm39) |
D1619V |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,812,641 (GRCm39) |
|
probably null |
Het |
| Ppan |
T |
A |
9: 20,802,777 (GRCm39) |
I311N |
probably benign |
Het |
| Ppih |
C |
A |
4: 119,167,987 (GRCm39) |
G175W |
probably damaging |
Het |
| Ppp1r8 |
G |
T |
4: 132,562,026 (GRCm39) |
Q65K |
probably damaging |
Het |
| Psmd5 |
T |
A |
2: 34,746,524 (GRCm39) |
K351M |
possibly damaging |
Het |
| Pth1r |
T |
C |
9: 110,560,626 (GRCm39) |
K53R |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,239,007 (GRCm39) |
F9L |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,892,723 (GRCm39) |
I288V |
probably benign |
Het |
| Sds |
A |
G |
5: 120,617,278 (GRCm39) |
I45V |
possibly damaging |
Het |
| Sfxn4 |
A |
T |
19: 60,847,187 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,828,329 (GRCm39) |
C1220S |
possibly damaging |
Het |
| Slc22a16 |
T |
G |
10: 40,479,660 (GRCm39) |
D577E |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,385,340 (GRCm39) |
M43K |
possibly damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,192 (GRCm39) |
I440T |
probably damaging |
Het |
| Spata6l |
A |
C |
19: 28,906,013 (GRCm39) |
S297A |
probably benign |
Het |
| St6galnac6 |
A |
G |
2: 32,504,941 (GRCm39) |
N151S |
probably benign |
Het |
| Taf4 |
G |
T |
2: 179,571,088 (GRCm39) |
L742M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,402,375 (GRCm39) |
S20P |
possibly damaging |
Het |
| Tkfc |
A |
T |
19: 10,572,394 (GRCm39) |
|
probably null |
Het |
| Tmem270 |
A |
G |
5: 134,931,681 (GRCm39) |
V87A |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,153,169 (GRCm39) |
H395R |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,114 (GRCm39) |
F206L |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,166,188 (GRCm39) |
|
probably null |
Het |
| Tulp3 |
G |
A |
6: 128,303,807 (GRCm39) |
T264M |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,244,440 (GRCm39) |
D194G |
possibly damaging |
Het |
| Vill |
C |
A |
9: 118,894,589 (GRCm39) |
C415* |
probably null |
Het |
| Zfp799 |
A |
G |
17: 33,039,256 (GRCm39) |
C337R |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,270 (GRCm39) |
E213G |
possibly 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 |
|
R4773:Pcdha8
|
UTSW |
18 |
37,127,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCGGTTCCAATGCTCTGCTG -3'
(R):5'- CACTCACAGTGTCCATGTGG -3'
Sequencing Primer
(F):5'- TGACTTACAGACTGAGCACCAATG -3'
(R):5'- TCCATGTGGAACTTGGATTTTATATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation