Incidental Mutation 'R7809:Pcdhac1'
| ID |
601046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac1
|
| Ensembl Gene |
ENSMUSG00000103255 |
| Gene Name |
protocadherin alpha subfamily C, 1 |
| Synonyms |
CNRc1 |
| MMRRC Submission |
045864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7809 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37223189-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37224009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 274
(N274S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007584
AA Change: N274S
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: N274S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CA
|
45 |
122 |
3.59e-1 |
SMART |
|
CA
|
146 |
231 |
6.32e-22 |
SMART |
|
CA
|
255 |
338 |
5.18e-18 |
SMART |
|
CA
|
362 |
443 |
9.73e-23 |
SMART |
|
CA
|
467 |
554 |
4.24e-23 |
SMART |
|
CA
|
584 |
662 |
1.11e-8 |
SMART |
|
Pfam:Cadherin_C_2
|
682 |
773 |
1.1e-12 |
PFAM |
|
Pfam:Cadherin_tail
|
813 |
947 |
5.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047614
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
19 |
131 |
3.78e-2 |
SMART |
|
CA
|
155 |
240 |
3.26e-24 |
SMART |
|
CA
|
264 |
348 |
6.37e-27 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
6.18e-25 |
SMART |
|
CA
|
594 |
676 |
5.6e-14 |
SMART |
|
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
799 |
933 |
5.3e-58 |
PFAM |
|
| 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: ENSMUST00000115657
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.95e-2 |
SMART |
|
CA
|
155 |
240 |
7.44e-19 |
SMART |
|
CA
|
264 |
347 |
5.63e-28 |
SMART |
|
CA
|
371 |
452 |
3.14e-26 |
SMART |
|
CA
|
476 |
562 |
1.42e-24 |
SMART |
|
CA
|
593 |
675 |
1.03e-12 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115658
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
CA
|
46 |
132 |
6.34e-2 |
SMART |
|
CA
|
156 |
241 |
4.65e-20 |
SMART |
|
CA
|
265 |
349 |
1.25e-25 |
SMART |
|
CA
|
373 |
454 |
9.22e-24 |
SMART |
|
CA
|
478 |
564 |
4.3e-24 |
SMART |
|
CA
|
595 |
678 |
5.07e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
795 |
929 |
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: ENSMUST00000192447
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
1.5e-4 |
SMART |
|
CA
|
155 |
240 |
3.6e-21 |
SMART |
|
CA
|
264 |
347 |
2.8e-30 |
SMART |
|
CA
|
371 |
452 |
1.5e-28 |
SMART |
|
CA
|
476 |
562 |
6.8e-27 |
SMART |
|
CA
|
593 |
675 |
4.9e-15 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| 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 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: ENSMUST00000193856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
| 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: 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no apparent gross phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
G |
A |
13: 25,004,779 (GRCm39) |
T62I |
probably damaging |
Het |
| Adam33 |
C |
G |
2: 130,893,266 (GRCm39) |
R779P |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,676,760 (GRCm39) |
P2024S |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,672,675 (GRCm39) |
N170S |
probably damaging |
Het |
| Ambn |
G |
A |
5: 88,615,683 (GRCm39) |
V371I |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,014 (GRCm39) |
P199L |
probably benign |
Het |
| Axdnd1 |
A |
T |
1: 156,220,371 (GRCm39) |
C118* |
probably null |
Het |
| Carf |
G |
T |
1: 60,183,226 (GRCm39) |
V443L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,402,894 (GRCm39) |
D459G |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,436,702 (GRCm39) |
A1601T |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,478,406 (GRCm39) |
I973N |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,835 (GRCm39) |
T391A |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,626,925 (GRCm39) |
M569L |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,474 (GRCm39) |
F1313L |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,688,910 (GRCm39) |
S110P |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,434,289 (GRCm39) |
R523L |
probably damaging |
Het |
| Cxadr |
T |
C |
16: 78,130,407 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,995,462 (GRCm39) |
M962K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,243,091 (GRCm39) |
K44R |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,917,924 (GRCm39) |
S1500G |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,427,603 (GRCm39) |
F503S |
possibly damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,631 (GRCm39) |
E645G |
|
Het |
| Gm20730 |
T |
C |
6: 43,058,989 (GRCm39) |
I15V |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,654 (GRCm39) |
*361G |
probably null |
Het |
| Inpp5f |
T |
C |
7: 128,269,367 (GRCm39) |
V239A |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,415 (GRCm39) |
Y257F |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,423,324 (GRCm39) |
D793G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,678 (GRCm39) |
K358R |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,141 (GRCm39) |
I137F |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,638 (GRCm39) |
H1358L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,855,944 (GRCm39) |
M979L |
possibly damaging |
Het |
| Mvb12a |
C |
A |
8: 71,998,306 (GRCm39) |
P175T |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,241,167 (GRCm39) |
E848G |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,902 (GRCm39) |
H129L |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,822,962 (GRCm39) |
V231A |
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,630,302 (GRCm39) |
K1532N |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,523,449 (GRCm39) |
D14G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,415,164 (GRCm39) |
F1432S |
possibly damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,293 (GRCm39) |
L91P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,178,209 (GRCm39) |
V508I |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,357,848 (GRCm39) |
Y387C |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,017,575 (GRCm39) |
T118S |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,034,614 (GRCm39) |
D1015E |
possibly damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,398,155 (GRCm39) |
N12S |
probably benign |
Het |
| Sohlh1 |
A |
C |
2: 25,735,289 (GRCm39) |
S198A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,198,465 (GRCm39) |
S38P |
possibly damaging |
Het |
| Spata21 |
G |
A |
4: 140,831,354 (GRCm39) |
A434T |
probably null |
Het |
| Stard13 |
T |
A |
5: 151,113,489 (GRCm39) |
Q24L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,230 (GRCm39) |
M3140I |
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tdrd9 |
G |
A |
12: 111,999,155 (GRCm39) |
G757R |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,759,265 (GRCm39) |
V198G |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,138,420 (GRCm39) |
N833D |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,072 (GRCm39) |
M38T |
probably benign |
Het |
| Ttc38 |
A |
C |
15: 85,722,939 (GRCm39) |
Q129P |
possibly damaging |
Het |
| Uox |
A |
T |
3: 146,333,613 (GRCm39) |
K271* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,673,133 (GRCm39) |
D47E |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,490,420 (GRCm39) |
I169T |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,862,596 (GRCm39) |
I805T |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,250,446 (GRCm39) |
F59S |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,609,661 (GRCm39) |
A21T |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,278 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Zfp871 |
A |
G |
17: 32,993,826 (GRCm39) |
C450R |
probably damaging |
Het |
|
| Other mutations in Pcdhac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
G1patch:Pcdhac1
|
UTSW |
18 |
37,223,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Pcdhac1
|
UTSW |
18 |
37,224,381 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2419:Pcdhac1
|
UTSW |
18 |
37,224,381 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3876:Pcdhac1
|
UTSW |
18 |
37,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Pcdhac1
|
UTSW |
18 |
37,224,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Pcdhac1
|
UTSW |
18 |
37,224,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Pcdhac1
|
UTSW |
18 |
37,224,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Pcdhac1
|
UTSW |
18 |
37,224,231 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4996:Pcdhac1
|
UTSW |
18 |
37,225,580 (GRCm39) |
nonsense |
probably null |
|
|
R5093:Pcdhac1
|
UTSW |
18 |
37,223,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5111:Pcdhac1
|
UTSW |
18 |
37,224,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Pcdhac1
|
UTSW |
18 |
37,224,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5203:Pcdhac1
|
UTSW |
18 |
37,224,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Pcdhac1
|
UTSW |
18 |
37,225,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Pcdhac1
|
UTSW |
18 |
37,225,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Pcdhac1
|
UTSW |
18 |
37,223,372 (GRCm39) |
nonsense |
probably null |
|
|
R6536:Pcdhac1
|
UTSW |
18 |
37,223,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6725:Pcdhac1
|
UTSW |
18 |
37,223,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Pcdhac1
|
UTSW |
18 |
37,223,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Pcdhac1
|
UTSW |
18 |
37,223,289 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6870:Pcdhac1
|
UTSW |
18 |
37,225,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Pcdhac1
|
UTSW |
18 |
37,225,550 (GRCm39) |
missense |
probably benign |
|
|
R8088:Pcdhac1
|
UTSW |
18 |
37,224,807 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8201:Pcdhac1
|
UTSW |
18 |
37,223,892 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8400:Pcdhac1
|
UTSW |
18 |
37,225,453 (GRCm39) |
nonsense |
probably null |
|
|
R8787:Pcdhac1
|
UTSW |
18 |
37,224,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Pcdhac1
|
UTSW |
18 |
37,224,021 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9733:Pcdhac1
|
UTSW |
18 |
37,225,506 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Pcdhac1
|
UTSW |
18 |
37,225,619 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Pcdhac1
|
UTSW |
18 |
37,225,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdhac1
|
UTSW |
18 |
37,225,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCACTATCACTGTGGTGG -3'
(R):5'- CCTCGAGTATTGAGCTGGAGAAG -3'
Sequencing Primer
(F):5'- GTGGACACCAACGACAATGC -3'
(R):5'- GGGCATGATCGTTCACATCAGTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation