Incidental Mutation 'R7030:Pcdha1'
| ID |
546294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37292326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 817
(H817R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111322
(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 |
Q91Y21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007584
AA Change: H835R
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: H835R
| 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: H877R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: H877R
| 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 |
possibly damaging
Transcript: ENSMUST00000047614
AA Change: H821R
PolyPhen 2
Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: H821R
| 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 |
possibly damaging
Transcript: ENSMUST00000070797
AA Change: H819R
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: H819R
| 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 |
possibly damaging
Transcript: ENSMUST00000115657
AA Change: H821R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
AA Change: H821R
| 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 damaging
Transcript: ENSMUST00000115658
AA Change: H817R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: H817R
| 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
AA Change: H850R
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: H850R
| 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
AA Change: H819R
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: H819R
| 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
AA Change: H805R
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: H805R
| 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 |
possibly damaging
Transcript: ENSMUST00000192295
AA Change: H557R
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
AA Change: H557R
| 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 |
possibly damaging
Transcript: ENSMUST00000192447
AA Change: H821R
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
AA Change: H821R
| 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
AA Change: H813R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
AA Change: H813R
| 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 |
possibly damaging
Transcript: ENSMUST00000192512
AA Change: H818R
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
AA Change: H818R
| 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 |
possibly damaging
Transcript: ENSMUST00000192631
AA Change: H808R
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: H808R
| 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 |
possibly damaging
Transcript: ENSMUST00000193389
AA Change: H817R
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
AA Change: H817R
| 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
AA Change: H817R
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
AA Change: H817R
| 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
AA Change: H819R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: H819R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194038
AA Change: H817R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: H817R
| 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
AA Change: H819R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
AA Change: H819R
| 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: 98.9%
|
| Validation Efficiency |
98% (92/94) |
| 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 null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
T |
4: 144,430,173 (GRCm39) |
A272D |
possibly damaging |
Het |
| Abr |
A |
T |
11: 76,350,038 (GRCm39) |
I347N |
probably damaging |
Het |
| Acbd4 |
T |
A |
11: 102,994,985 (GRCm39) |
L50Q |
probably damaging |
Het |
| Acsl5 |
T |
G |
19: 55,261,251 (GRCm39) |
Y69* |
probably null |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,108 (GRCm39) |
T401I |
probably damaging |
Het |
| Ap3m2 |
C |
T |
8: 23,289,807 (GRCm39) |
E99K |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,124,769 (GRCm39) |
S504R |
possibly damaging |
Het |
| Arsj |
T |
A |
3: 126,232,752 (GRCm39) |
D499E |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,939,575 (GRCm39) |
D232G |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,359 (GRCm39) |
P258S |
possibly damaging |
Het |
| Catspere2 |
T |
A |
1: 177,845,280 (GRCm39) |
I100N |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,943,252 (GRCm39) |
N787K |
possibly damaging |
Het |
| Celsr1 |
C |
A |
15: 85,789,679 (GRCm39) |
C2653F |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,584,051 (GRCm39) |
E11G |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,022,641 (GRCm39) |
N12H |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,334 (GRCm39) |
T141A |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 130,272,671 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,622,929 (GRCm39) |
I417F |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,238,738 (GRCm39) |
I427V |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,333,208 (GRCm39) |
E2203G |
probably benign |
Het |
| Dnmt3c |
A |
T |
2: 153,559,345 (GRCm39) |
S409C |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,724,375 (GRCm39) |
M1541K |
probably damaging |
Het |
| Dzip1l |
C |
T |
9: 99,547,888 (GRCm39) |
T714I |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,825,807 (GRCm39) |
R535G |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,876,588 (GRCm39) |
S250P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,036,107 (GRCm39) |
T3253I |
probably damaging |
Het |
| Fer1l6 |
T |
A |
15: 58,501,227 (GRCm39) |
F1302I |
probably damaging |
Het |
| Fmnl1 |
T |
G |
11: 103,085,600 (GRCm39) |
|
probably benign |
Het |
| Gckr |
C |
A |
5: 31,459,554 (GRCm39) |
F201L |
possibly damaging |
Het |
| Gm10036 |
A |
G |
18: 15,966,292 (GRCm39) |
T148A |
probably benign |
Het |
| Gm5142 |
G |
A |
14: 59,415,909 (GRCm39) |
S83F |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,689,004 (GRCm39) |
V31D |
possibly damaging |
Het |
| Gramd2b |
A |
T |
18: 56,618,321 (GRCm39) |
Y207F |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,801,124 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
G |
17: 12,952,753 (GRCm39) |
L231P |
probably damaging |
Het |
| Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
| Insyn2b |
T |
A |
11: 34,352,030 (GRCm39) |
V24E |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,408,491 (GRCm39) |
S101P |
probably benign |
Het |
| Klhl23 |
T |
G |
2: 69,664,310 (GRCm39) |
V553G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,388,745 (GRCm39) |
I3235V |
probably damaging |
Het |
| Mb |
A |
T |
15: 76,900,256 (GRCm39) |
I57N |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,624,843 (GRCm39) |
I295T |
possibly damaging |
Het |
| Mink1 |
G |
A |
11: 70,498,601 (GRCm39) |
V589I |
possibly damaging |
Het |
| Mndal |
T |
C |
1: 173,703,160 (GRCm39) |
K82E |
probably damaging |
Het |
| Mroh1 |
A |
C |
15: 76,321,517 (GRCm39) |
K1066T |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,396,192 (GRCm39) |
N149K |
unknown |
Het |
| Myo7b |
G |
T |
18: 32,104,626 (GRCm39) |
L1404I |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,001 (GRCm39) |
S461P |
probably damaging |
Het |
| Nudt12 |
A |
T |
17: 59,310,348 (GRCm39) |
D418E |
probably benign |
Het |
| Or2g7 |
T |
A |
17: 38,378,948 (GRCm39) |
D295E |
probably benign |
Het |
| Or5g27 |
G |
T |
2: 85,409,746 (GRCm39) |
R54S |
possibly damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,080 (GRCm39) |
Y421C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,306,886 (GRCm39) |
D1094G |
probably benign |
Het |
| Pck2 |
A |
T |
14: 55,785,223 (GRCm39) |
D427V |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,421 (GRCm39) |
T1760A |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,188 (GRCm39) |
Y83N |
probably damaging |
Het |
| Pgs1 |
T |
C |
11: 117,893,312 (GRCm39) |
I213T |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,410,969 (GRCm39) |
T1021S |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,941,375 (GRCm39) |
I1677N |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,174,752 (GRCm39) |
E378G |
possibly damaging |
Het |
| Prkcq |
T |
G |
2: 11,231,661 (GRCm39) |
|
probably null |
Het |
| Psmd2 |
C |
T |
16: 20,480,883 (GRCm39) |
P780L |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,639,105 (GRCm39) |
S392P |
possibly damaging |
Het |
| Rad51ap2 |
G |
C |
12: 11,507,432 (GRCm39) |
L451F |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,823,197 (GRCm39) |
E598G |
probably damaging |
Het |
| Rho |
A |
T |
6: 115,912,504 (GRCm39) |
N123Y |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,737,934 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
T |
G |
5: 124,606,656 (GRCm39) |
K186T |
probably damaging |
Het |
| Rps6ka4 |
A |
C |
19: 6,816,992 (GRCm39) |
L61R |
probably damaging |
Het |
| Sds |
C |
A |
5: 120,618,890 (GRCm39) |
Q118K |
probably benign |
Het |
| Septin1 |
C |
T |
7: 126,816,157 (GRCm39) |
R91K |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,616,673 (GRCm39) |
Y185C |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,998,266 (GRCm39) |
M376V |
possibly damaging |
Het |
| Slc6a9 |
A |
G |
4: 117,714,633 (GRCm39) |
T189A |
possibly damaging |
Het |
| Slc7a6 |
T |
G |
8: 106,922,606 (GRCm39) |
V464G |
possibly damaging |
Het |
| Smg8 |
T |
A |
11: 86,975,919 (GRCm39) |
D554V |
probably damaging |
Het |
| Sox8 |
A |
G |
17: 25,789,082 (GRCm39) |
|
probably null |
Het |
| Spata31e4 |
G |
T |
13: 50,857,019 (GRCm39) |
V886L |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,918,689 (GRCm39) |
V41D |
probably damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,801,493 (GRCm39) |
F282Y |
probably damaging |
Het |
| Svs3a |
T |
G |
2: 164,132,091 (GRCm39) |
Y220D |
probably damaging |
Het |
| Teddm1a |
T |
A |
1: 153,768,369 (GRCm39) |
Y278N |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,272 (GRCm39) |
Y526C |
probably damaging |
Het |
| Tmc3 |
T |
A |
7: 83,266,025 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,596,583 (GRCm39) |
E20110V |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,264,941 (GRCm39) |
D235G |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,622,395 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Vmn1r224 |
T |
C |
17: 20,639,789 (GRCm39) |
L122P |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,438,473 (GRCm39) |
L121P |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,368 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
G |
T |
2: 30,001,033 (GRCm39) |
H129Q |
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,282,618 (GRCm39) |
A64T |
probably benign |
Het |
|
| Other mutations in Pcdha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Pcdha1
|
APN |
18 |
37,065,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Pcdha1
|
UTSW |
18 |
37,139,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0108:Pcdha1
|
UTSW |
18 |
37,131,809 (GRCm39) |
missense |
probably benign |
|
|
R0543:Pcdha1
|
UTSW |
18 |
37,318,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pcdha1
|
UTSW |
18 |
37,318,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pcdha1
|
UTSW |
18 |
37,065,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2301:Pcdha1
|
UTSW |
18 |
37,289,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Pcdha1
|
UTSW |
18 |
37,064,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Pcdha1
|
UTSW |
18 |
37,064,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3693:Pcdha1
|
UTSW |
18 |
37,065,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3783:Pcdha1
|
UTSW |
18 |
37,063,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha1
|
UTSW |
18 |
37,064,454 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4012:Pcdha1
|
UTSW |
18 |
37,064,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4540:Pcdha1
|
UTSW |
18 |
37,064,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Pcdha1
|
UTSW |
18 |
37,064,959 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4678:Pcdha1
|
UTSW |
18 |
37,063,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4998:Pcdha1
|
UTSW |
18 |
37,065,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Pcdha1
|
UTSW |
18 |
37,065,312 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5518:Pcdha1
|
UTSW |
18 |
37,065,415 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5673:Pcdha1
|
UTSW |
18 |
37,063,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Pcdha1
|
UTSW |
18 |
37,063,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Pcdha1
|
UTSW |
18 |
37,063,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Pcdha1
|
UTSW |
18 |
37,064,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Pcdha1
|
UTSW |
18 |
37,065,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Pcdha1
|
UTSW |
18 |
37,065,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Pcdha1
|
UTSW |
18 |
37,064,509 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6503:Pcdha1
|
UTSW |
18 |
37,064,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Pcdha1
|
UTSW |
18 |
37,064,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7011:Pcdha1
|
UTSW |
18 |
37,063,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Pcdha1
|
UTSW |
18 |
37,064,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Pcdha1
|
UTSW |
18 |
37,063,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7700:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7768:Pcdha1
|
UTSW |
18 |
37,065,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Pcdha1
|
UTSW |
18 |
37,065,511 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7800:Pcdha1
|
UTSW |
18 |
37,064,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pcdha1
|
UTSW |
18 |
37,065,254 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8325:Pcdha1
|
UTSW |
18 |
37,063,867 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8699:Pcdha1
|
UTSW |
18 |
37,064,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Pcdha1
|
UTSW |
18 |
37,064,760 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9513:Pcdha1
|
UTSW |
18 |
37,065,286 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9746:Pcdha1
|
UTSW |
18 |
37,065,713 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGTCAGCAATGGTCTTG -3'
(R):5'- ATCCAGAGGCCGTGTTTTATG -3'
Sequencing Primer
(F):5'- CAATGGTCTTGCAGTTTTACAAGG -3'
(R):5'- GGCCGTGTTTTATGGAAGAAAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation