Incidental Mutation 'R5396:Pcdha8'
| ID |
429713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha8
|
| Ensembl Gene |
ENSMUSG00000103800 |
| Gene Name |
protocadherin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
044394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R5396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37125520-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37126787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 423
(V423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000193389]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000192631]
[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: V423E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: V423E
| 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
C |
2: 127,028,873 (GRCm39) |
T109A |
probably damaging |
Het |
| A430005L14Rik |
GCC |
G |
4: 154,045,410 (GRCm39) |
|
probably null |
Het |
| Actr1a |
T |
C |
19: 46,384,103 (GRCm39) |
D5G |
possibly damaging |
Het |
| Adra2c |
A |
G |
5: 35,438,217 (GRCm39) |
T330A |
probably benign |
Het |
| Ahcyl2 |
C |
T |
6: 29,859,697 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,539 (GRCm39) |
V1941A |
probably damaging |
Het |
| Akr1b7 |
G |
A |
6: 34,389,411 (GRCm39) |
|
probably null |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,746,875 (GRCm39) |
V570A |
probably damaging |
Het |
| Ano4 |
T |
C |
10: 88,948,702 (GRCm39) |
E302G |
probably damaging |
Het |
| Bop1 |
A |
T |
15: 76,339,489 (GRCm39) |
H285Q |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,560,543 (GRCm39) |
I845L |
possibly damaging |
Het |
| Ccdc28b |
G |
T |
4: 129,513,238 (GRCm39) |
Q184K |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,926,126 (GRCm39) |
S198P |
probably damaging |
Het |
| Cdc7 |
A |
T |
5: 107,117,163 (GRCm39) |
|
probably null |
Het |
| Cdhr2 |
A |
G |
13: 54,884,269 (GRCm39) |
D1268G |
probably benign |
Het |
| Celsr3 |
C |
T |
9: 108,705,781 (GRCm39) |
R755W |
probably damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,684,979 (GRCm39) |
N117I |
probably damaging |
Het |
| Chst11 |
C |
A |
10: 83,027,083 (GRCm39) |
P170Q |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,552,932 (GRCm39) |
Y98H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,770,132 (GRCm39) |
V237A |
possibly damaging |
Het |
| Ctnnbl1 |
G |
A |
2: 157,659,752 (GRCm39) |
|
probably null |
Het |
| Dbndd1 |
C |
A |
8: 124,236,582 (GRCm39) |
R95S |
probably damaging |
Het |
| Ddx3y |
A |
G |
Y: 1,265,965 (GRCm39) |
V344A |
probably damaging |
Het |
| Defb30 |
A |
T |
14: 63,273,559 (GRCm39) |
|
probably null |
Het |
| Dennd10 |
T |
C |
19: 60,823,274 (GRCm39) |
L303P |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,018,108 (GRCm39) |
R129Q |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,362,891 (GRCm39) |
M3818L |
probably benign |
Het |
| Dusp4 |
G |
T |
8: 35,284,458 (GRCm39) |
D258Y |
probably damaging |
Het |
| E2f1 |
A |
T |
2: 154,406,368 (GRCm39) |
F103I |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,055 (GRCm39) |
Y248C |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,037,855 (GRCm39) |
V310A |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,993,917 (GRCm39) |
|
probably null |
Het |
| Etv4 |
A |
T |
11: 101,666,167 (GRCm39) |
H120Q |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,608 (GRCm39) |
F474L |
probably benign |
Het |
| Flot2 |
T |
A |
11: 77,940,314 (GRCm39) |
C20* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,821,262 (GRCm39) |
G5665D |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Glrp1 |
TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG |
TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG |
1: 88,431,066 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,427,955 (GRCm39) |
L202* |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hnf1b |
A |
T |
11: 83,746,863 (GRCm39) |
M160L |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,186,470 (GRCm39) |
T237A |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,499,732 (GRCm39) |
|
probably null |
Het |
| Kyat3 |
A |
G |
3: 142,440,367 (GRCm39) |
K364E |
probably benign |
Het |
| Lars1 |
T |
A |
18: 42,350,024 (GRCm39) |
T927S |
probably benign |
Het |
| Mfap1b |
A |
T |
2: 121,304,371 (GRCm39) |
M8K |
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,070,576 (GRCm39) |
P592S |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
C |
T |
11: 50,939,297 (GRCm39) |
A121V |
probably damaging |
Het |
| Or4c110 |
A |
T |
2: 88,832,540 (GRCm39) |
L31M |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,098 (GRCm39) |
Y63C |
probably benign |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,983,170 (GRCm39) |
V791A |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,920 (GRCm39) |
S657P |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,781,196 (GRCm39) |
V17A |
possibly damaging |
Het |
| Sdc1 |
A |
T |
12: 8,841,743 (GRCm39) |
|
probably null |
Het |
| Sdcbp2 |
T |
A |
2: 151,429,057 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc4a4 |
G |
T |
5: 89,194,076 (GRCm39) |
M141I |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Spata6 |
T |
C |
4: 111,656,315 (GRCm39) |
C320R |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,905,089 (GRCm39) |
H325R |
possibly damaging |
Het |
| Ssu2 |
T |
A |
6: 112,357,957 (GRCm39) |
T129S |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,771,409 (GRCm39) |
W631R |
probably damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,143,939 (GRCm39) |
N122I |
possibly damaging |
Het |
| Synpo2 |
G |
A |
3: 122,911,331 (GRCm39) |
Q105* |
probably null |
Het |
| Tert |
G |
A |
13: 73,787,362 (GRCm39) |
V783I |
probably damaging |
Het |
| Ticam1 |
G |
T |
17: 56,578,117 (GRCm39) |
T326K |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,980,888 (GRCm39) |
M269V |
possibly damaging |
Het |
| Tmem86a |
T |
A |
7: 46,702,794 (GRCm39) |
V73E |
possibly damaging |
Het |
| Trpv4 |
G |
A |
5: 114,761,675 (GRCm39) |
R818C |
possibly damaging |
Het |
| Tstd2 |
A |
G |
4: 46,135,542 (GRCm39) |
S4P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,644,715 (GRCm39) |
V4686E |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,954,769 (GRCm39) |
|
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Usp33 |
A |
G |
3: 152,089,824 (GRCm39) |
E780G |
possibly damaging |
Het |
| Vapb |
T |
A |
2: 173,613,336 (GRCm39) |
Y78* |
probably null |
Het |
| Vps13b |
G |
A |
15: 35,887,094 (GRCm39) |
R3227Q |
probably damaging |
Het |
| Vps33a |
A |
T |
5: 123,696,693 (GRCm39) |
I320N |
probably damaging |
Het |
| Wnt5a |
T |
C |
14: 28,244,727 (GRCm39) |
C305R |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,696 (GRCm39) |
C463R |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,742,090 (GRCm39) |
C263Y |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,675,526 (GRCm39) |
R375Q |
probably damaging |
Het |
| Znrf1 |
T |
A |
8: 112,345,826 (GRCm39) |
|
probably null |
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 |
|
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'- CAGCTCAATGTCAAAACACTCTGG -3'
(R):5'- CATCCACCGCTGATACTGTG -3'
Sequencing Primer
(F):5'- CTGGCTCCCTGTTAAAGAAGATGC -3'
(R):5'- TCCACCGCTGATACTGTGAAGATG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation