Incidental Mutation 'R7486:Pcdha12'
| ID |
580207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha12
|
| Ensembl Gene |
ENSMUSG00000103310 |
| Gene Name |
protocadherin alpha 12 |
| Synonyms |
Cnr5, Pcdha13, Crnr5 |
| MMRRC Submission |
045560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R7486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37153283-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37154610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 443
(V443E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047614
AA Change: V443E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: V443E
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
19 |
131 |
3.78e-2 |
SMART |
|
CA
|
155 |
240 |
3.26e-24 |
SMART |
|
CA
|
264 |
348 |
6.37e-27 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
6.18e-25 |
SMART |
|
CA
|
594 |
676 |
5.6e-14 |
SMART |
|
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
799 |
933 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115657
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.95e-2 |
SMART |
|
CA
|
155 |
240 |
7.44e-19 |
SMART |
|
CA
|
264 |
347 |
5.63e-28 |
SMART |
|
CA
|
371 |
452 |
3.14e-26 |
SMART |
|
CA
|
476 |
562 |
1.42e-24 |
SMART |
|
CA
|
593 |
675 |
1.03e-12 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115658
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
CA
|
46 |
132 |
6.34e-2 |
SMART |
|
CA
|
156 |
241 |
4.65e-20 |
SMART |
|
CA
|
265 |
349 |
1.25e-25 |
SMART |
|
CA
|
373 |
454 |
9.22e-24 |
SMART |
|
CA
|
478 |
564 |
4.3e-24 |
SMART |
|
CA
|
595 |
678 |
5.07e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
795 |
929 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
CA
|
75 |
161 |
2.46e-2 |
SMART |
|
CA
|
185 |
270 |
8.1e-20 |
SMART |
|
CA
|
294 |
378 |
1.69e-22 |
SMART |
|
CA
|
402 |
483 |
1.52e-24 |
SMART |
|
CA
|
507 |
593 |
5.68e-24 |
SMART |
|
CA
|
624 |
705 |
6.69e-12 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192447
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
1.5e-4 |
SMART |
|
CA
|
155 |
240 |
3.6e-21 |
SMART |
|
CA
|
264 |
347 |
2.8e-30 |
SMART |
|
CA
|
371 |
452 |
1.5e-28 |
SMART |
|
CA
|
476 |
562 |
6.8e-27 |
SMART |
|
CA
|
593 |
675 |
4.9e-15 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.58e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
1.42e-24 |
SMART |
|
CA
|
372 |
453 |
9.36e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
671 |
4.03e-6 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
2.04e-25 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
9.88e-24 |
SMART |
|
CA
|
594 |
676 |
8.62e-15 |
SMART |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
| SMART Domains |
Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
T |
C |
12: 81,605,657 (GRCm39) |
I702V |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 84,450,515 (GRCm39) |
E815G |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,523,330 (GRCm39) |
V298A |
|
Het |
| Akp3 |
A |
G |
1: 87,053,201 (GRCm39) |
D91G |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,937,642 (GRCm39) |
|
probably null |
Het |
| Blvra |
T |
C |
2: 126,929,243 (GRCm39) |
S136P |
unknown |
Het |
| Cacul1 |
T |
A |
19: 60,568,868 (GRCm39) |
M97L |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,946,542 (GRCm39) |
V827A |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,192,166 (GRCm39) |
E11G |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,851,322 (GRCm39) |
V813E |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,791,923 (GRCm39) |
V2478A |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,783 (GRCm39) |
F148S |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,503,362 (GRCm39) |
I863F |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,750,513 (GRCm39) |
V101A |
possibly damaging |
Het |
| Cpne8 |
A |
T |
15: 90,400,109 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
G |
7: 130,668,192 (GRCm39) |
C483G |
unknown |
Het |
| Dnah7b |
G |
A |
1: 46,329,894 (GRCm39) |
G3246D |
probably damaging |
Het |
| Dnajc3 |
C |
A |
14: 119,209,816 (GRCm39) |
T297K |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,034 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
| Erc1 |
G |
A |
6: 119,571,907 (GRCm39) |
Q1022* |
probably null |
Het |
| Ercc5 |
T |
A |
1: 44,187,224 (GRCm39) |
M1K |
probably null |
Het |
| Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 39,011,576 (GRCm39) |
Y2225* |
probably null |
Het |
| Frk |
G |
A |
10: 34,423,292 (GRCm39) |
W123* |
probably null |
Het |
| Gm11568 |
T |
A |
11: 99,749,292 (GRCm39) |
C166S |
unknown |
Het |
| Gpr153 |
A |
G |
4: 152,366,858 (GRCm39) |
D337G |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,252,235 (GRCm39) |
F517L |
probably damaging |
Het |
| Gsg1 |
C |
T |
6: 135,214,427 (GRCm39) |
E361K |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,676,130 (GRCm39) |
R136* |
probably null |
Het |
| Insm1 |
G |
A |
2: 146,065,738 (GRCm39) |
R518H |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,193 (GRCm39) |
C622Y |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,825,357 (GRCm39) |
S640R |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,180 (GRCm39) |
V199A |
probably benign |
Het |
| Lamb1 |
T |
G |
12: 31,337,441 (GRCm39) |
S391A |
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,506 (GRCm39) |
V105E |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,303,374 (GRCm39) |
D376A |
probably benign |
Het |
| Map7d1 |
C |
A |
4: 126,128,179 (GRCm39) |
R614L |
unknown |
Het |
| Mcm8 |
C |
T |
2: 132,681,440 (GRCm39) |
R667W |
probably damaging |
Het |
| Med13l |
C |
T |
5: 118,866,539 (GRCm39) |
T531I |
probably benign |
Het |
| Mstn |
G |
T |
1: 53,103,128 (GRCm39) |
A155S |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,434,690 (GRCm39) |
R2251K |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,796,463 (GRCm39) |
S692P |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,325,120 (GRCm39) |
N2514K |
probably benign |
Het |
| Nkd2 |
T |
A |
13: 73,995,561 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,720,219 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,275,805 (GRCm39) |
Y135H |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,884,742 (GRCm39) |
H398L |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,912,181 (GRCm39) |
Y114F |
probably benign |
Het |
| Or12j4 |
C |
T |
7: 140,045,947 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,847 (GRCm39) |
Y102C |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,657,849 (GRCm39) |
L1027P |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,706,050 (GRCm39) |
I417F |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,461 (GRCm39) |
D435G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,254,270 (GRCm39) |
T853K |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,254,271 (GRCm39) |
T853A |
probably benign |
Het |
| Pgghg |
T |
A |
7: 140,522,393 (GRCm39) |
S57R |
probably benign |
Het |
| Ppm1m |
T |
C |
9: 106,073,810 (GRCm39) |
D301G |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,899 (GRCm39) |
V519A |
probably benign |
Het |
| Prss41 |
ACAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCA |
17: 24,063,072 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
C |
T |
8: 13,640,201 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,316,870 (GRCm39) |
V395A |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,929,499 (GRCm39) |
S1123P |
probably damaging |
Het |
| Setd1b |
A |
G |
5: 123,301,655 (GRCm39) |
K45E |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,739 (GRCm39) |
S216G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,997 (GRCm39) |
Y282C |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,567,078 (GRCm39) |
S255P |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,462,861 (GRCm39) |
Q617L |
possibly damaging |
Het |
| Spo11 |
G |
A |
2: 172,825,870 (GRCm39) |
D103N |
probably benign |
Het |
| Tcf20 |
A |
T |
15: 82,737,935 (GRCm39) |
M1172K |
possibly damaging |
Het |
| Tesc |
T |
A |
5: 118,184,382 (GRCm39) |
S21T |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,337,101 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,934,774 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,673,115 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,965,259 (GRCm39) |
D193G |
possibly damaging |
Het |
| Upk3a |
A |
T |
15: 84,902,225 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,101 (GRCm39) |
N747S |
probably damaging |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
probably benign |
Het |
| Zbtb2 |
G |
A |
10: 4,319,025 (GRCm39) |
Q334* |
probably null |
Het |
| Zfp653 |
T |
C |
9: 21,967,824 (GRCm39) |
N494D |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,259 (GRCm39) |
D748G |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,755,612 (GRCm39) |
S1014P |
possibly damaging |
Het |
|
| Other mutations in Pcdha12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Pcdha12
|
APN |
18 |
37,154,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2884:Pcdha12
|
UTSW |
18 |
37,153,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Pcdha12
|
UTSW |
18 |
37,155,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3619:Pcdha12
|
UTSW |
18 |
37,153,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Pcdha12
|
UTSW |
18 |
37,154,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Pcdha12
|
UTSW |
18 |
37,154,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4711:Pcdha12
|
UTSW |
18 |
37,153,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4987:Pcdha12
|
UTSW |
18 |
37,154,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Pcdha12
|
UTSW |
18 |
37,155,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5568:Pcdha12
|
UTSW |
18 |
37,153,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Pcdha12
|
UTSW |
18 |
37,155,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6211:Pcdha12
|
UTSW |
18 |
37,153,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6268:Pcdha12
|
UTSW |
18 |
37,155,477 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6793:Pcdha12
|
UTSW |
18 |
37,155,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Pcdha12
|
UTSW |
18 |
37,153,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7065:Pcdha12
|
UTSW |
18 |
37,154,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Pcdha12
|
UTSW |
18 |
37,153,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Pcdha12
|
UTSW |
18 |
37,154,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Pcdha12
|
UTSW |
18 |
37,155,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Pcdha12
|
UTSW |
18 |
37,155,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7940:Pcdha12
|
UTSW |
18 |
37,153,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8271:Pcdha12
|
UTSW |
18 |
37,154,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Pcdha12
|
UTSW |
18 |
37,155,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8405:Pcdha12
|
UTSW |
18 |
37,154,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8475:Pcdha12
|
UTSW |
18 |
37,154,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8715:Pcdha12
|
UTSW |
18 |
37,153,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Pcdha12
|
UTSW |
18 |
37,154,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9307:Pcdha12
|
UTSW |
18 |
37,153,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Pcdha12
|
UTSW |
18 |
37,153,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Pcdha12
|
UTSW |
18 |
37,153,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Pcdha12
|
UTSW |
18 |
37,153,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Pcdha12
|
UTSW |
18 |
37,155,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Pcdha12
|
UTSW |
18 |
37,155,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Pcdha12
|
UTSW |
18 |
37,155,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Pcdha12
|
UTSW |
18 |
37,155,126 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9596:Pcdha12
|
UTSW |
18 |
37,154,302 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9673:Pcdha12
|
UTSW |
18 |
37,155,234 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGAGACTCTGGTGACAAC -3'
(R):5'- GTGCACAGACACATAGCTCGAC -3'
Sequencing Primer
(F):5'- ACTCTGGTGACAACGGGCAG -3'
(R):5'- GCTGACACCGTGAAGAT -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation