Incidental Mutation 'R7810:Pcdhac2'
| ID |
601136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac2
|
| Ensembl Gene |
ENSMUSG00000102697 |
| Gene Name |
protocadherin alpha subfamily C, 2 |
| Synonyms |
CNRc2 |
| MMRRC Submission |
045865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37278717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 566
(V566M)
|
| 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 |
probably benign
Transcript: ENSMUST00000047479
AA Change: V566M
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: V566M
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (91/92) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,045 (GRCm39) |
E200G |
probably benign |
Het |
| Ankfy1 |
C |
T |
11: 72,645,281 (GRCm39) |
Q787* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,855,815 (GRCm39) |
H208Q |
probably damaging |
Het |
| Brsk2 |
T |
A |
7: 141,539,157 (GRCm39) |
|
probably null |
Het |
| Cabp5 |
T |
A |
7: 13,132,263 (GRCm39) |
F11I |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,435,964 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,826,454 (GRCm39) |
V1087A |
probably benign |
Het |
| Cct3 |
C |
T |
3: 88,228,442 (GRCm39) |
T508I |
probably damaging |
Het |
| Ceacam9 |
T |
A |
7: 16,457,658 (GRCm39) |
M57K |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,983,546 (GRCm39) |
E487G |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,443,032 (GRCm39) |
K278E |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,941,122 (GRCm39) |
H286L |
possibly damaging |
Het |
| Dnai7 |
T |
G |
6: 145,140,312 (GRCm39) |
D163A |
probably benign |
Het |
| Efr3a |
G |
T |
15: 65,659,022 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
A |
1: 63,770,851 (GRCm39) |
I69N |
possibly damaging |
Het |
| Flg2 |
T |
C |
3: 93,107,548 (GRCm39) |
I11T |
possibly damaging |
Het |
| Folr2 |
T |
C |
7: 101,490,102 (GRCm39) |
M84V |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,113,786 (GRCm39) |
F360S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,173,946 (GRCm39) |
V192A |
probably benign |
Het |
| Gas6 |
A |
T |
8: 13,516,809 (GRCm39) |
I563N |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,324,085 (GRCm39) |
F567L |
possibly damaging |
Het |
| Gm12695 |
G |
A |
4: 96,619,608 (GRCm39) |
H423Y |
probably damaging |
Het |
| Gm6902 |
T |
C |
7: 22,973,243 (GRCm39) |
T95A |
probably benign |
Het |
| Gpr155 |
G |
T |
2: 73,212,296 (GRCm39) |
A109D |
probably damaging |
Het |
| Hsdl1 |
T |
C |
8: 120,294,711 (GRCm39) |
D5G |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,455,628 (GRCm39) |
P313S |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,902,527 (GRCm39) |
T390M |
probably damaging |
Het |
| Irx1 |
C |
A |
13: 72,107,917 (GRCm39) |
R255L |
probably benign |
Het |
| Itga2 |
T |
A |
13: 115,002,715 (GRCm39) |
T592S |
probably benign |
Het |
| Kit |
C |
A |
5: 75,769,982 (GRCm39) |
S131R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,390 (GRCm39) |
T1444A |
unknown |
Het |
| Mapk8ip1 |
C |
T |
2: 92,219,496 (GRCm39) |
E112K |
probably benign |
Het |
| Marveld3 |
T |
C |
8: 110,681,266 (GRCm39) |
I210V |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,295,068 (GRCm39) |
I398L |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,953,309 (GRCm39) |
I530T |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,452,833 (GRCm39) |
Y26C |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,067,747 (GRCm39) |
S600R |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,292 (GRCm39) |
I836V |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,694 (GRCm39) |
D375G |
probably damaging |
Het |
| Napepld |
T |
A |
5: 21,888,263 (GRCm39) |
D62V |
possibly damaging |
Het |
| Nedd9 |
A |
C |
13: 41,465,483 (GRCm39) |
I719S |
possibly damaging |
Het |
| Nes |
T |
A |
3: 87,882,923 (GRCm39) |
M394K |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,231,772 (GRCm39) |
Y1288F |
possibly damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,791,782 (GRCm39) |
C822* |
probably null |
Het |
| Noa1 |
A |
C |
5: 77,457,071 (GRCm39) |
L278R |
probably damaging |
Het |
| Nop16 |
A |
G |
13: 54,737,889 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,268,659 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,450 (GRCm39) |
Y252F |
probably benign |
Het |
| Or5b12 |
A |
G |
19: 12,897,229 (GRCm39) |
V148A |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,890,962 (GRCm39) |
H117Y |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,077,058 (GRCm39) |
E130D |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,676,575 (GRCm39) |
E571G |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,086,659 (GRCm39) |
E222K |
possibly damaging |
Het |
| Pira12 |
C |
A |
7: 3,897,204 (GRCm39) |
C544F |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,578,356 (GRCm39) |
|
probably null |
Het |
| Pogz |
T |
C |
3: 94,777,418 (GRCm39) |
L366P |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,138,086 (GRCm39) |
I145V |
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,320,407 (GRCm39) |
|
probably null |
Het |
| Ptprk |
T |
A |
10: 28,468,853 (GRCm39) |
H1438Q |
probably damaging |
Het |
| Rbm4 |
A |
T |
19: 4,842,650 (GRCm39) |
V63E |
possibly damaging |
Het |
| Sbk2 |
T |
A |
7: 4,961,938 (GRCm39) |
H116L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,923,434 (GRCm39) |
T352A |
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,250,264 (GRCm39) |
C529* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,663 (GRCm39) |
V1716D |
probably benign |
Het |
| Slc19a3 |
C |
T |
1: 82,997,162 (GRCm39) |
V349I |
probably benign |
Het |
| Slc27a4 |
C |
A |
2: 29,695,722 (GRCm39) |
R86S |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,696,059 (GRCm39) |
H613R |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,884 (GRCm39) |
R58G |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,254,021 (GRCm39) |
N1243Y |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,996,720 (GRCm39) |
S261P |
unknown |
Het |
| Tab1 |
A |
T |
15: 80,042,999 (GRCm39) |
T398S |
possibly damaging |
Het |
| Tas2r131 |
T |
A |
6: 132,934,705 (GRCm39) |
T35S |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,714 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Tigd4 |
T |
A |
3: 84,502,310 (GRCm39) |
V409E |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,501 (GRCm39) |
Q583R |
probably benign |
Het |
| Tmprss9 |
T |
A |
10: 80,733,145 (GRCm39) |
C894S |
unknown |
Het |
| Topaz1 |
T |
A |
9: 122,578,250 (GRCm39) |
S387T |
probably benign |
Het |
| Tsfm |
T |
C |
10: 126,847,558 (GRCm39) |
R178G |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,875 (GRCm39) |
I181T |
probably damaging |
Het |
| Ttyh3 |
T |
A |
5: 140,610,896 (GRCm39) |
K97N |
|
Het |
| Ubr4 |
A |
G |
4: 139,142,394 (GRCm39) |
E38G |
|
Het |
| Ugt2b37 |
T |
C |
5: 87,402,118 (GRCm39) |
Y171C |
probably damaging |
Het |
| Unc5b |
C |
A |
10: 60,601,020 (GRCm39) |
M935I |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,362,314 (GRCm39) |
S1606P |
|
Het |
| Vmn1r195 |
T |
C |
13: 22,463,244 (GRCm39) |
L238P |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,261,081 (GRCm39) |
M419L |
probably benign |
Het |
| Washc2 |
G |
T |
6: 116,236,020 (GRCm39) |
A1164S |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,042,940 (GRCm39) |
M1937K |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,099,265 (GRCm39) |
L261* |
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,559,092 (GRCm39) |
Y285F |
probably benign |
Het |
| Wtap |
A |
G |
17: 13,199,797 (GRCm39) |
L62P |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,170 (GRCm39) |
Y93* |
probably null |
Het |
| Zfp94 |
C |
A |
7: 24,002,498 (GRCm39) |
V315F |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,911,798 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9262:Pcdhac2
|
UTSW |
18 |
37,279,095 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- TACCAGGTGTGTTGCTCTGC -3'
(R):5'- GGTAAAAGAGCCAAGCATTCTG -3'
Sequencing Primer
(F):5'- GAATGCAGAGGTGACCTACTC -3'
(R):5'- TGCCCAGAGTCTGAATCCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation