Incidental Mutation 'R5093:Pcdhac1'
| ID |
387969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac1
|
| Ensembl Gene |
ENSMUSG00000103255 |
| Gene Name |
protocadherin alpha subfamily C, 1 |
| Synonyms |
CNRc1 |
| MMRRC Submission |
042682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5093 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37223189-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37223595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 136
(F136Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000192295]
[ENSMUST00000192168]
[ENSMUST00000192631]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000192447]
[ENSMUST00000193839]
[ENSMUST00000194544]
[ENSMUST00000115662]
[ENSMUST00000193389]
[ENSMUST00000195590]
[ENSMUST00000194751]
|
| AlphaFold |
Q91Y10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007584
AA Change: F136Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: F136Y
| 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: 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: 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: ENSMUST00000193856
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2312 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (90/91) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,610,573 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,032,358 (GRCm39) |
L753Q |
probably damaging |
Het |
| Acvrl1 |
A |
G |
15: 101,032,628 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,740,704 (GRCm39) |
N141K |
probably damaging |
Het |
| Aftph |
C |
T |
11: 20,659,619 (GRCm39) |
|
probably null |
Het |
| Aifm1 |
C |
T |
X: 47,571,637 (GRCm39) |
G371S |
probably benign |
Het |
| Aldh3b2 |
A |
G |
19: 4,029,433 (GRCm39) |
M269V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,802,877 (GRCm39) |
Y207C |
probably damaging |
Het |
| Arhgap15 |
G |
T |
2: 44,212,767 (GRCm39) |
M412I |
probably damaging |
Het |
| Auts2 |
A |
C |
5: 131,468,296 (GRCm39) |
L783R |
probably damaging |
Het |
| Baiap2l1 |
A |
T |
5: 144,215,363 (GRCm39) |
Y381N |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,243 (GRCm39) |
D180G |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,416,423 (GRCm39) |
S330G |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,848,111 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,703,967 (GRCm39) |
F752L |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,320,689 (GRCm39) |
H708N |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,596,896 (GRCm39) |
K487M |
possibly damaging |
Het |
| Cerkl |
A |
T |
2: 79,163,867 (GRCm39) |
N66K |
probably damaging |
Het |
| Cilk1 |
G |
A |
9: 78,047,303 (GRCm39) |
V68I |
probably benign |
Het |
| Clec11a |
C |
T |
7: 43,954,150 (GRCm39) |
A268T |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,091,912 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
C |
A |
14: 87,222,236 (GRCm39) |
R416L |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,838,315 (GRCm39) |
N1170I |
probably damaging |
Het |
| Erbb2 |
G |
T |
11: 98,318,279 (GRCm39) |
C505F |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,289,479 (GRCm39) |
F904L |
probably damaging |
Het |
| Exo5 |
C |
T |
4: 120,779,514 (GRCm39) |
G117D |
probably damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,930,896 (GRCm39) |
Y64H |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,207 (GRCm39) |
M207L |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,771,786 (GRCm39) |
L277P |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,261 (GRCm39) |
|
probably null |
Het |
| Gm5493 |
T |
A |
17: 22,966,201 (GRCm39) |
C29S |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,564,382 (GRCm39) |
T455A |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,766 (GRCm39) |
V93A |
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,406,217 (GRCm39) |
A535V |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,597 (GRCm39) |
S455T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,613,007 (GRCm39) |
D1424V |
probably benign |
Het |
| Hsd3b6 |
C |
T |
3: 98,715,120 (GRCm39) |
V91I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,030,039 (GRCm39) |
S363N |
possibly damaging |
Het |
| Intu |
T |
C |
3: 40,647,347 (GRCm39) |
V740A |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,992,717 (GRCm39) |
V838I |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,965 (GRCm39) |
E143G |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,614,205 (GRCm39) |
I172F |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,754,043 (GRCm39) |
R21W |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,750,620 (GRCm39) |
D449E |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,831,785 (GRCm39) |
I418V |
probably benign |
Het |
| Nags |
T |
A |
11: 102,037,395 (GRCm39) |
M162K |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,413 (GRCm39) |
D14G |
probably benign |
Het |
| Or2l13 |
T |
A |
16: 19,306,227 (GRCm39) |
I213N |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or7g28 |
T |
G |
9: 19,272,274 (GRCm39) |
I126L |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,850,560 (GRCm39) |
V681G |
probably damaging |
Het |
| Paxip1 |
G |
T |
5: 27,971,282 (GRCm39) |
Q356K |
unknown |
Het |
| Pla2g6 |
A |
G |
15: 79,171,328 (GRCm39) |
V699A |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,943,578 (GRCm39) |
V107E |
probably damaging |
Het |
| Plch1 |
T |
A |
3: 63,681,136 (GRCm39) |
I164F |
probably damaging |
Het |
| Plpp3 |
A |
T |
4: 105,052,077 (GRCm39) |
I73F |
probably damaging |
Het |
| Plscr5 |
G |
A |
9: 92,080,574 (GRCm39) |
R20Q |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,252,779 (GRCm39) |
R504Q |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,751 (GRCm39) |
Y30C |
probably damaging |
Het |
| Psg19 |
T |
A |
7: 18,530,894 (GRCm39) |
T87S |
probably benign |
Het |
| Ptpn22 |
T |
G |
3: 103,789,418 (GRCm39) |
M294R |
probably benign |
Het |
| Rai1 |
T |
A |
11: 60,079,482 (GRCm39) |
M1182K |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,867,388 (GRCm39) |
V795D |
possibly damaging |
Het |
| Shcbp1 |
A |
G |
8: 4,789,214 (GRCm39) |
V535A |
possibly damaging |
Het |
| Skint9 |
A |
G |
4: 112,246,447 (GRCm39) |
Y222H |
probably benign |
Het |
| Slc13a3 |
T |
A |
2: 165,253,816 (GRCm39) |
I446F |
probably damaging |
Het |
| Slc2a3 |
C |
T |
6: 122,714,196 (GRCm39) |
R57H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,863,838 (GRCm39) |
N329Y |
possibly damaging |
Het |
| Strbp |
C |
T |
2: 37,517,499 (GRCm39) |
R192K |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,600,548 (GRCm39) |
L14Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,834,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,241,596 (GRCm39) |
K1003T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,971,800 (GRCm39) |
E805G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,060,980 (GRCm39) |
N167Y |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,744,390 (GRCm39) |
R721G |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,701,267 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,869,288 (GRCm39) |
I412T |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,952 (GRCm39) |
S211T |
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 |
|
|
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 |
|
|
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'- CCTTTCCAACTACAGAGAGTCC -3'
(R):5'- GATCCAGCGCTTTCTCTAGC -3'
Sequencing Primer
(F):5'- ACTACAGAGAGTCCTACTTCGGG -3'
(R):5'- AGCGCTTTCTCTAGCACCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation