Incidental Mutation 'R1599:Pcdha1'
| ID |
176076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1599 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37318290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 941
(T941M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000194038]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000192503]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193839]
[ENSMUST00000115661]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000194751]
[ENSMUST00000195590]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007584
AA Change: T959M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: T959M
| 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 damaging
Transcript: ENSMUST00000047479
AA Change: T1001M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: T1001M
| 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 damaging
Transcript: ENSMUST00000047614
AA Change: T945M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: T945M
| 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 damaging
Transcript: ENSMUST00000070797
AA Change: T943M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: T943M
| 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 damaging
Transcript: ENSMUST00000115657
AA Change: T945M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
AA Change: T945M
| 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: T941M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: T941M
| 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 damaging
Transcript: ENSMUST00000115659
AA Change: T974M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: T974M
| 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 damaging
Transcript: ENSMUST00000115662
AA Change: T943M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: T943M
| 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 damaging
Transcript: ENSMUST00000192168
AA Change: T929M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: T929M
| 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 damaging
Transcript: ENSMUST00000194038
AA Change: T941M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: T941M
| 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 damaging
Transcript: ENSMUST00000192512
AA Change: T942M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
AA Change: T942M
| 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 damaging
Transcript: ENSMUST00000193777
AA Change: T941M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
AA Change: T941M
| 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 damaging
Transcript: ENSMUST00000192503
AA Change: T937M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
AA Change: T937M
| 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 damaging
Transcript: ENSMUST00000192631
AA Change: T932M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: T932M
| 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [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 |
|---|
| 2700049A03Rik |
A |
G |
12: 71,197,033 (GRCm39) |
E202G |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,610,092 (GRCm39) |
D698G |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,215,377 (GRCm39) |
D20G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,797 (GRCm39) |
S114P |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,343,057 (GRCm39) |
R297* |
probably null |
Het |
| Ahdc1 |
A |
T |
4: 132,792,247 (GRCm39) |
S1163C |
possibly damaging |
Het |
| Axl |
A |
G |
7: 25,463,394 (GRCm39) |
Y619H |
probably damaging |
Het |
| Bcl11a |
G |
T |
11: 24,113,887 (GRCm39) |
C410F |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,472,178 (GRCm39) |
S2359* |
probably null |
Het |
| Calca |
A |
G |
7: 114,233,707 (GRCm39) |
S75P |
probably damaging |
Het |
| Ccn2 |
A |
T |
10: 24,473,297 (GRCm39) |
R279W |
probably benign |
Het |
| Ccpg1 |
T |
A |
9: 72,906,407 (GRCm39) |
Y54* |
probably null |
Het |
| Cfap161 |
A |
T |
7: 83,425,287 (GRCm39) |
M268K |
possibly damaging |
Het |
| Cfap61 |
T |
A |
2: 145,854,083 (GRCm39) |
V365E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,548,709 (GRCm39) |
I1000V |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,122,799 (GRCm39) |
D978E |
probably benign |
Het |
| Cyth1 |
G |
A |
11: 118,068,047 (GRCm39) |
T297M |
probably damaging |
Het |
| Dennd1b |
T |
G |
1: 139,095,468 (GRCm39) |
D505E |
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,809,608 (GRCm39) |
T99A |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,971,093 (GRCm39) |
M180L |
probably benign |
Het |
| Gar1 |
G |
T |
3: 129,624,253 (GRCm39) |
R80S |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,866,944 (GRCm39) |
S419P |
probably benign |
Het |
| Gm5591 |
A |
C |
7: 38,219,794 (GRCm39) |
C360G |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,193,185 (GRCm39) |
H427R |
probably benign |
Het |
| Gpt2 |
A |
G |
8: 86,238,863 (GRCm39) |
Y232C |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,361,054 (GRCm39) |
H118L |
unknown |
Het |
| Ice2 |
T |
A |
9: 69,318,724 (GRCm39) |
C303S |
probably null |
Het |
| Ikzf3 |
C |
A |
11: 98,357,919 (GRCm39) |
G473C |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,406,951 (GRCm39) |
D38E |
probably damaging |
Het |
| Kcna6 |
A |
T |
6: 126,716,282 (GRCm39) |
D202E |
probably benign |
Het |
| Klhl21 |
G |
A |
4: 152,096,757 (GRCm39) |
G341D |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,143,538 (GRCm39) |
V497D |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,270,000 (GRCm39) |
L2449F |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,744,899 (GRCm39) |
E10G |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,583,457 (GRCm39) |
Q682* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,002,801 (GRCm39) |
V82A |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,172,186 (GRCm39) |
T2I |
probably damaging |
Het |
| Man2a1 |
T |
C |
17: 64,986,826 (GRCm39) |
Y613H |
possibly damaging |
Het |
| Mcm3 |
G |
A |
1: 20,890,422 (GRCm39) |
T4I |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,301,663 (GRCm39) |
A1124T |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,143 (GRCm39) |
L348I |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,922,021 (GRCm39) |
M159I |
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,352,640 (GRCm39) |
Q709L |
possibly damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nosip |
A |
G |
7: 44,723,430 (GRCm39) |
N32S |
probably benign |
Het |
| Npat |
T |
C |
9: 53,473,704 (GRCm39) |
Y499H |
possibly damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,440,024 (GRCm39) |
I522N |
probably damaging |
Het |
| Or1j18 |
G |
T |
2: 36,625,001 (GRCm39) |
V223F |
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,176 (GRCm39) |
K312M |
probably damaging |
Het |
| Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
| Or7g32 |
T |
A |
9: 19,389,517 (GRCm39) |
T7S |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,742 (GRCm39) |
F799S |
probably damaging |
Het |
| Pate5 |
T |
C |
9: 35,750,333 (GRCm39) |
N113S |
probably benign |
Het |
| Pilrb2 |
A |
T |
5: 137,866,859 (GRCm39) |
F215I |
possibly damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,363,016 (GRCm39) |
M1092I |
probably benign |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,055 (GRCm39) |
V491L |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
| Prr27 |
G |
T |
5: 87,991,084 (GRCm39) |
R232L |
probably benign |
Het |
| Rab3gap2 |
C |
T |
1: 184,983,223 (GRCm39) |
T454I |
probably benign |
Het |
| Rgs11 |
C |
A |
17: 26,427,223 (GRCm39) |
H385N |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,155,230 (GRCm39) |
T399S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,441,087 (GRCm39) |
M1044I |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,592 (GRCm39) |
Q603L |
possibly damaging |
Het |
| Setx |
G |
A |
2: 29,030,385 (GRCm39) |
E275K |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,864,856 (GRCm39) |
P444S |
probably benign |
Het |
| Shoc1 |
A |
T |
4: 59,072,349 (GRCm39) |
N622K |
possibly damaging |
Het |
| Strn3 |
T |
A |
12: 51,699,549 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,224,868 (GRCm39) |
N131S |
probably damaging |
Het |
| Tmprss13 |
T |
A |
9: 45,249,616 (GRCm39) |
W318R |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,178 (GRCm39) |
V64A |
probably damaging |
Het |
| Trafd1 |
A |
T |
5: 121,517,720 (GRCm39) |
N24K |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,437 (GRCm39) |
S1237P |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,381,555 (GRCm39) |
V238A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,565,537 (GRCm39) |
S492P |
probably benign |
Het |
| Zic1 |
T |
C |
9: 91,243,741 (GRCm39) |
I409V |
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 |
|
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 |
|
R7030:Pcdha1
|
UTSW |
18 |
37,292,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TGCAATCATCTCCATCCGGCAG -3'
(R):5'- TGGTAGCCACACATACCCAGTGAC -3'
Sequencing Primer
(F):5'- GGAGCCTGCTAACAACCAAATTG -3'
(R):5'- AGTCCAACTCTCACTGGCG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation