Incidental Mutation 'R0543:Pcdha1'
ID |
50084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha1
|
Ensembl Gene |
ENSMUSG00000103442 |
Gene Name |
protocadherin alpha 1 |
Synonyms |
|
MMRRC Submission |
038735-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0543 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37318121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 945
(I945F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000192512]
[ENSMUST00000192503]
[ENSMUST00000193777]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000194038]
[ENSMUST00000192631]
[ENSMUST00000192295]
[ENSMUST00000193389]
[ENSMUST00000115661]
[ENSMUST00000192447]
[ENSMUST00000193839]
[ENSMUST00000194751]
[ENSMUST00000194544]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y21 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007584
AA Change: I903F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000007584 Gene: ENSMUSG00000103255 AA Change: I903F
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: I945F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: I945F
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: I889F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047609 Gene: ENSMUSG00000103310 AA Change: I889F
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: I887F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442 AA Change: I887F
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: I889F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111321 Gene: ENSMUSG00000102206 AA Change: I889F
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: I885F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111322 Gene: ENSMUSG00000007440 AA Change: I885F
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: I918F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111323 Gene: ENSMUSG00000103770 AA Change: I918F
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 |
possibly damaging
Transcript: ENSMUST00000192512
AA Change: I886F
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252 AA Change: I886F
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: ENSMUST00000192503
AA Change: I881F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312 AA Change: I881F
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: ENSMUST00000193777
AA Change: I885F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707 AA Change: I885F
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: ENSMUST00000193856
AA Change: I159F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115662
AA Change: I887F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148 AA Change: I887F
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: I873F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092 AA Change: I873F
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: I885F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142159 Gene: ENSMUSG00000103800 AA Change: I885F
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: ENSMUST00000192631
AA Change: I876F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142156 Gene: ENSMUSG00000104318 AA Change: I876F
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: 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: 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: 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: 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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.1273 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
A |
6: 116,431,278 (GRCm39) |
|
probably null |
Het |
Apol9b |
A |
G |
15: 77,619,840 (GRCm39) |
N212S |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,971,085 (GRCm39) |
|
probably null |
Het |
Bltp1 |
G |
A |
3: 37,050,607 (GRCm39) |
S2981N |
probably benign |
Het |
Ccdc180 |
A |
T |
4: 45,900,041 (GRCm39) |
K200* |
probably null |
Het |
Ccser2 |
A |
T |
14: 36,662,149 (GRCm39) |
M345K |
probably benign |
Het |
Cdcp2 |
A |
T |
4: 106,954,873 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
C |
3: 144,454,155 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
G |
A |
6: 102,246,051 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,075,326 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,244,325 (GRCm39) |
F1035S |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,920 (GRCm39) |
S998C |
probably damaging |
Het |
Ecrg4 |
C |
A |
1: 43,781,449 (GRCm39) |
N110K |
possibly damaging |
Het |
Enox1 |
T |
C |
14: 77,744,399 (GRCm39) |
|
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,887,054 (GRCm39) |
M1V |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,378,870 (GRCm39) |
Y5N |
probably damaging |
Het |
Git2 |
G |
T |
5: 114,883,592 (GRCm39) |
H42Q |
probably damaging |
Het |
Gm7964 |
G |
A |
7: 83,405,602 (GRCm39) |
|
noncoding transcript |
Het |
Hars2 |
G |
A |
18: 36,922,477 (GRCm39) |
E337K |
probably damaging |
Het |
Hells |
A |
G |
19: 38,956,194 (GRCm39) |
R797G |
probably benign |
Het |
Hnf1a |
G |
A |
5: 115,088,803 (GRCm39) |
S571L |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,320 (GRCm39) |
Y4C |
probably damaging |
Het |
Inpp4a |
G |
A |
1: 37,408,573 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,492,709 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
T |
A |
2: 79,474,850 (GRCm39) |
S270T |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,537,352 (GRCm39) |
P1037T |
probably damaging |
Het |
Lyg2 |
T |
A |
1: 37,950,188 (GRCm39) |
M47L |
possibly damaging |
Het |
Macf1 |
G |
T |
4: 123,270,171 (GRCm39) |
A4648D |
probably damaging |
Het |
Mcf2l |
T |
C |
8: 13,046,728 (GRCm39) |
|
probably null |
Het |
Mcm9 |
C |
T |
10: 53,417,694 (GRCm39) |
R3H |
probably damaging |
Het |
Met |
T |
A |
6: 17,491,969 (GRCm39) |
Y244N |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,168,411 (GRCm39) |
C210S |
possibly damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,631,058 (GRCm39) |
Y181C |
probably benign |
Het |
Mtch2 |
T |
C |
2: 90,680,026 (GRCm39) |
V86A |
possibly damaging |
Het |
Mttp |
A |
T |
3: 137,817,457 (GRCm39) |
I446N |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,577,120 (GRCm39) |
S2207T |
unknown |
Het |
Muc5b |
A |
G |
7: 141,405,522 (GRCm39) |
T944A |
unknown |
Het |
Myo15a |
A |
T |
11: 60,369,877 (GRCm39) |
H879L |
probably benign |
Het |
Nherf4 |
A |
C |
9: 44,160,231 (GRCm39) |
H324Q |
probably damaging |
Het |
Nkiras2 |
G |
A |
11: 100,515,018 (GRCm39) |
|
probably benign |
Het |
Nostrin |
T |
G |
2: 69,019,475 (GRCm39) |
*507E |
probably null |
Het |
Nup205 |
T |
C |
6: 35,175,904 (GRCm39) |
V589A |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,953,307 (GRCm39) |
I72T |
probably benign |
Het |
Or5b21 |
G |
T |
19: 12,839,252 (GRCm39) |
V38F |
probably benign |
Het |
Or5w17 |
C |
A |
2: 87,583,994 (GRCm39) |
L114F |
probably damaging |
Het |
Oxct2b |
T |
A |
4: 123,010,782 (GRCm39) |
M234K |
possibly damaging |
Het |
Pik3ca |
G |
A |
3: 32,504,410 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,887 (GRCm39) |
|
probably null |
Het |
Plscr1 |
A |
T |
9: 92,140,099 (GRCm39) |
|
probably null |
Het |
Prkn |
G |
A |
17: 11,286,066 (GRCm39) |
D20N |
probably damaging |
Het |
Psd |
T |
C |
19: 46,307,956 (GRCm39) |
E684G |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,213,199 (GRCm39) |
E870G |
probably damaging |
Het |
Rpl22l1 |
C |
A |
3: 28,861,423 (GRCm39) |
Y103* |
probably null |
Het |
Semp2l2b |
T |
C |
10: 21,942,823 (GRCm39) |
S386G |
possibly damaging |
Het |
Slc38a4 |
A |
T |
15: 96,914,720 (GRCm39) |
N44K |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,623 (GRCm39) |
I93F |
probably damaging |
Het |
Strip1 |
G |
A |
3: 107,534,091 (GRCm39) |
T181M |
possibly damaging |
Het |
Stxbp5l |
G |
A |
16: 37,028,458 (GRCm39) |
A535V |
probably damaging |
Het |
Tg |
A |
T |
15: 66,601,446 (GRCm39) |
Q152L |
probably benign |
Het |
Thada |
T |
C |
17: 84,730,591 (GRCm39) |
T1036A |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,991,856 (GRCm39) |
T941S |
probably benign |
Het |
Tppp3 |
T |
C |
8: 106,194,840 (GRCm39) |
D97G |
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,690,449 (GRCm39) |
I210V |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,711,574 (GRCm39) |
L1440P |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,766,661 (GRCm39) |
Y317N |
probably damaging |
Het |
Zdhhc5 |
T |
A |
2: 84,522,824 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- TGCCCTGTTGATTGTTTCCAGACAC -3'
(R):5'- AGCCTGCCCTGCAAATATCATCAAG -3'
Sequencing Primer
(F):5'- GTTTCCAGACACTGGCAATTTC -3'
(R):5'- AGACACAGGGAACTTTCTGC -3'
|
Posted On |
2013-06-12 |