Incidental Mutation 'R9262:Pcdhac2'
| ID |
702354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac2
|
| Ensembl Gene |
ENSMUSG00000102697 |
| Gene Name |
protocadherin alpha subfamily C, 2 |
| Synonyms |
CNRc2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37279095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 692
(R692G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007584
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
| 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 |
possibly damaging
Transcript: ENSMUST00000047479
AA Change: R692G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: R692G
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
30 |
145 |
9.8e-3 |
SMART |
|
CA
|
169 |
254 |
2.07e-17 |
SMART |
|
CA
|
278 |
362 |
2.86e-29 |
SMART |
|
CA
|
386 |
466 |
4.79e-22 |
SMART |
|
CA
|
490 |
576 |
1.44e-25 |
SMART |
|
CA
|
606 |
687 |
3.45e-14 |
SMART |
|
Pfam:Cadherin_C_2
|
702 |
809 |
1.2e-26 |
PFAM |
|
low complexity region
|
810 |
823 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
855 |
989 |
5.8e-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: 98.6%
|
| Validation Efficiency |
97% (73/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,443,375 (GRCm39) |
H192L |
unknown |
Het |
| Abca4 |
T |
A |
3: 121,964,639 (GRCm39) |
C2149S |
probably damaging |
Het |
| Abl2 |
G |
A |
1: 156,469,820 (GRCm39) |
G1028D |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,941 (GRCm39) |
T680A |
probably damaging |
Het |
| Amn |
G |
A |
12: 111,237,585 (GRCm39) |
W10* |
probably null |
Het |
| Ankhd1 |
G |
T |
18: 36,765,799 (GRCm39) |
V140F |
|
Het |
| Asnsd1 |
A |
T |
1: 53,383,934 (GRCm39) |
N613K |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,807,543 (GRCm39) |
I417N |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,225,009 (GRCm39) |
W971R |
probably null |
Het |
| Cand2 |
A |
T |
6: 115,759,730 (GRCm39) |
I134F |
probably benign |
Het |
| Ccdc154 |
C |
A |
17: 25,389,160 (GRCm39) |
H453N |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,269 (GRCm39) |
S1610P |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,486,277 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Ccdc9 |
A |
C |
7: 16,012,400 (GRCm39) |
S261A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,916,702 (GRCm39) |
S277T |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,497 (GRCm39) |
Y8* |
probably null |
Het |
| Cramp1 |
A |
G |
17: 25,232,920 (GRCm39) |
S27P |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,243,406 (GRCm39) |
M141L |
probably benign |
Het |
| Csf2rb2 |
G |
T |
15: 78,168,535 (GRCm39) |
F873L |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,404,833 (GRCm39) |
R2570W |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,976,919 (GRCm39) |
N94Y |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,965 (GRCm39) |
K640R |
probably benign |
Het |
| Epha8 |
A |
C |
4: 136,658,995 (GRCm39) |
H886Q |
probably benign |
Het |
| Fcgbp |
G |
C |
7: 27,819,952 (GRCm39) |
D2560H |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,305,109 (GRCm39) |
F605V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,807,662 (GRCm39) |
N1327S |
probably benign |
Het |
| Gm12117 |
T |
C |
11: 33,226,001 (GRCm39) |
T112A |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,697 (GRCm39) |
N220K |
probably damaging |
Het |
| Gm572 |
T |
C |
4: 148,735,652 (GRCm39) |
V27A |
probably benign |
Het |
| Gpr39 |
A |
G |
1: 125,800,524 (GRCm39) |
K425R |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,883,097 (GRCm39) |
D349G |
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,478,541 (GRCm39) |
S248P |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,659,678 (GRCm39) |
|
probably benign |
Het |
| Itga3 |
C |
T |
11: 94,956,625 (GRCm39) |
V210I |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,083,793 (GRCm39) |
I2173T |
probably benign |
Het |
| Klf13 |
G |
A |
7: 63,574,456 (GRCm39) |
Q21* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,731,222 (GRCm39) |
S3032T |
probably benign |
Het |
| Krt34 |
T |
C |
11: 99,930,851 (GRCm39) |
R184G |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,876,994 (GRCm39) |
T137A |
probably benign |
Het |
| Ldc1 |
A |
G |
4: 130,114,153 (GRCm39) |
V88A |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,723,422 (GRCm39) |
|
probably null |
Het |
| Mog |
T |
C |
17: 37,325,648 (GRCm39) |
T196A |
possibly damaging |
Het |
| Ms4a6d |
T |
C |
19: 11,579,216 (GRCm39) |
Y87C |
possibly damaging |
Het |
| Ndrg4 |
C |
T |
8: 96,435,812 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,394,871 (GRCm39) |
M927K |
possibly damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,282 (GRCm39) |
M197L |
probably benign |
Het |
| Or4a73 |
G |
T |
2: 89,421,435 (GRCm39) |
T8K |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
A |
10: 80,160,864 (GRCm39) |
S321C |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,859 (GRCm39) |
F1292L |
|
Het |
| Pigv |
G |
T |
4: 133,397,110 (GRCm39) |
P6Q |
possibly damaging |
Het |
| Pkhd1 |
A |
C |
1: 20,618,351 (GRCm39) |
S927A |
probably benign |
Het |
| Pnpla3 |
A |
T |
15: 84,055,363 (GRCm39) |
I90F |
probably benign |
Het |
| Pole |
C |
A |
5: 110,473,422 (GRCm39) |
L1739I |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,473,423 (GRCm39) |
L1739H |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,317 (GRCm39) |
N318K |
possibly damaging |
Het |
| Rpl18a |
A |
T |
8: 71,348,179 (GRCm39) |
L168Q |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,765,854 (GRCm39) |
N1294S |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,453,223 (GRCm39) |
L98P |
possibly damaging |
Het |
| Slco1a8 |
G |
T |
6: 141,926,594 (GRCm39) |
F597L |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,262 (GRCm39) |
V650A |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,402 (GRCm39) |
M473V |
probably benign |
Het |
| Strada |
C |
T |
11: 106,075,444 (GRCm39) |
R13Q |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,200,918 (GRCm39) |
S37P |
unknown |
Het |
| Syce1l |
T |
C |
8: 114,380,738 (GRCm39) |
|
probably null |
Het |
| Tdg |
T |
A |
10: 82,480,507 (GRCm39) |
F263L |
probably damaging |
Het |
| Tead3 |
G |
T |
17: 28,560,495 (GRCm39) |
S36R |
probably benign |
Het |
| Timm44 |
A |
G |
8: 4,310,621 (GRCm39) |
L377P |
probably damaging |
Het |
| Tk1 |
C |
T |
11: 117,716,581 (GRCm39) |
V9M |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,300,506 (GRCm39) |
Y722H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,232 (GRCm39) |
M13792K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,594,411 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
G |
T |
5: 74,189,965 (GRCm39) |
A133E |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,430 (GRCm39) |
R1240S |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,982 (GRCm39) |
R325Q |
probably damaging |
Het |
|
| Other mutations in Pcdhac2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Pcdhac2
|
APN |
18 |
37,278,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Pcdhac2
|
APN |
18 |
37,279,339 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02302:Pcdhac2
|
APN |
18 |
37,279,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02381:Pcdhac2
|
APN |
18 |
37,277,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02644:Pcdhac2
|
APN |
18 |
37,278,232 (GRCm39) |
missense |
probably benign |
|
|
IGL02645:Pcdhac2
|
APN |
18 |
37,278,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03087:Pcdhac2
|
APN |
18 |
37,278,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Pcdhac2
|
UTSW |
18 |
37,278,290 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0374:Pcdhac2
|
UTSW |
18 |
37,278,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0589:Pcdhac2
|
UTSW |
18 |
37,279,527 (GRCm39) |
missense |
probably benign |
|
|
R0607:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1537:Pcdhac2
|
UTSW |
18 |
37,279,539 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1545:Pcdhac2
|
UTSW |
18 |
37,279,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1878:Pcdhac2
|
UTSW |
18 |
37,278,215 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2139:Pcdhac2
|
UTSW |
18 |
37,279,139 (GRCm39) |
nonsense |
probably null |
|
|
R2197:Pcdhac2
|
UTSW |
18 |
37,279,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2680:Pcdhac2
|
UTSW |
18 |
37,278,639 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2882:Pcdhac2
|
UTSW |
18 |
37,278,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3719:Pcdhac2
|
UTSW |
18 |
37,279,288 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4256:Pcdhac2
|
UTSW |
18 |
37,277,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Pcdhac2
|
UTSW |
18 |
37,277,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4426:Pcdhac2
|
UTSW |
18 |
37,277,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4698:Pcdhac2
|
UTSW |
18 |
37,278,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Pcdhac2
|
UTSW |
18 |
37,278,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4950:Pcdhac2
|
UTSW |
18 |
37,278,283 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4993:Pcdhac2
|
UTSW |
18 |
37,279,304 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5127:Pcdhac2
|
UTSW |
18 |
37,277,352 (GRCm39) |
nonsense |
probably null |
|
|
R5446:Pcdhac2
|
UTSW |
18 |
37,278,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Pcdhac2
|
UTSW |
18 |
37,277,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Pcdhac2
|
UTSW |
18 |
37,279,477 (GRCm39) |
missense |
probably benign |
|
|
R5615:Pcdhac2
|
UTSW |
18 |
37,279,476 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5620:Pcdhac2
|
UTSW |
18 |
37,277,257 (GRCm39) |
missense |
probably benign |
|
|
R5661:Pcdhac2
|
UTSW |
18 |
37,278,499 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5760:Pcdhac2
|
UTSW |
18 |
37,279,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Pcdhac2
|
UTSW |
18 |
37,279,335 (GRCm39) |
nonsense |
probably null |
|
|
R6310:Pcdhac2
|
UTSW |
18 |
37,278,824 (GRCm39) |
nonsense |
probably null |
|
|
R6493:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Pcdhac2
|
UTSW |
18 |
37,278,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6827:Pcdhac2
|
UTSW |
18 |
37,277,706 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Pcdhac2
|
UTSW |
18 |
37,277,479 (GRCm39) |
missense |
probably benign |
|
|
R7140:Pcdhac2
|
UTSW |
18 |
37,277,239 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7162:Pcdhac2
|
UTSW |
18 |
37,278,840 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7242:Pcdhac2
|
UTSW |
18 |
37,277,946 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7325:Pcdhac2
|
UTSW |
18 |
37,278,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Pcdhac2
|
UTSW |
18 |
37,277,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Pcdhac2
|
UTSW |
18 |
37,278,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8072:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8079:Pcdhac2
|
UTSW |
18 |
37,279,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8272:Pcdhac2
|
UTSW |
18 |
37,279,242 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8489:Pcdhac2
|
UTSW |
18 |
37,278,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Pcdhac2
|
UTSW |
18 |
37,277,071 (GRCm39) |
missense |
probably benign |
|
|
R9035:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Pcdhac2
|
UTSW |
18 |
37,277,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9626:Pcdhac2
|
UTSW |
18 |
37,279,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9688:Pcdhac2
|
UTSW |
18 |
37,277,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0970:Pcdhac2
|
UTSW |
18 |
37,278,388 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGTCCCAACGTCTGACTCG -3'
(R):5'- TGGTATCCTGGCATCGATATTG -3'
Sequencing Primer
(F):5'- ACGTCTGACTCGGACCTTTTTAAAG -3'
(R):5'- TTGTACAGCTCTGCAGGGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation