Incidental Mutation 'R5659:Pcdhac1'
| ID |
444011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac1
|
| Ensembl Gene |
ENSMUSG00000103255 |
| Gene Name |
protocadherin alpha subfamily C, 1 |
| Synonyms |
CNRc1 |
| MMRRC Submission |
043303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37223189-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37225470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 761
(L761P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000193777]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000192447]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000194544]
[ENSMUST00000192295]
[ENSMUST00000194038]
[ENSMUST00000192503]
[ENSMUST00000192631]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007584
AA Change: L761P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: L761P
| 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: 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: 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: 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: 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: 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: ENSMUST00000193856
|
| 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
| Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
| Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
| Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
| Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
| Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
| Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
| Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
| Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
| Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
| Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
| Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
| Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
| Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
| Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
| Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
| Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
| Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
probably benign |
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 |
|
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 |
|
|
R7809:Pcdhac1
|
UTSW |
18 |
37,224,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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'- ATAGCCCTGGTCTGCATTTC -3'
(R):5'- TGCCAGAGGAGTCAAACCAC -3'
Sequencing Primer
(F):5'- CATTTCCTTTTTATTTCTGGGGTGC -3'
(R):5'- CAGAGGAGTCAAACCACATAATATG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation