Incidental Mutation 'R7940:Pcdha12'
| ID |
649029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha12
|
| Ensembl Gene |
ENSMUSG00000103310 |
| Gene Name |
protocadherin alpha 12 |
| Synonyms |
Cnr5, Pcdha13, Crnr5 |
| MMRRC Submission |
045986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37153283-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37153409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 43
(T43S)
|
| 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: T43S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: T43S
| 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 |
98% (56/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,767 (GRCm39) |
M238T |
probably benign |
Het |
| Acacb |
C |
T |
5: 114,304,108 (GRCm39) |
S177F |
possibly damaging |
Het |
| Afap1l2 |
A |
G |
19: 56,902,597 (GRCm39) |
V822A |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,693 (GRCm39) |
P1170L |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,596 (GRCm39) |
I1234V |
probably damaging |
Het |
| Ascc1 |
G |
A |
10: 59,848,381 (GRCm39) |
V103M |
probably null |
Het |
| Brca2 |
C |
G |
5: 150,462,198 (GRCm39) |
T654S |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,972,899 (GRCm39) |
F410S |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,686,974 (GRCm39) |
N94K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cpe |
T |
A |
8: 65,047,945 (GRCm39) |
S440C |
probably damaging |
Het |
| Cspg4 |
C |
T |
9: 56,795,381 (GRCm39) |
Q1039* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,535,069 (GRCm39) |
S612T |
probably benign |
Het |
| Dapl1 |
T |
C |
2: 59,315,112 (GRCm39) |
|
probably null |
Het |
| Deptor |
C |
T |
15: 55,072,244 (GRCm39) |
T241M |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,454 (GRCm39) |
T181A |
possibly damaging |
Het |
| Dnajc11 |
G |
T |
4: 152,053,045 (GRCm39) |
Q156H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,206,757 (GRCm39) |
V975A |
possibly damaging |
Het |
| Elf3 |
T |
A |
1: 135,184,866 (GRCm39) |
S107C |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,770,324 (GRCm39) |
D105V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,956,344 (GRCm39) |
V1008I |
probably benign |
Het |
| Frmpd2 |
C |
T |
14: 33,276,850 (GRCm39) |
R1157* |
probably null |
Het |
| Gabrg2 |
A |
C |
11: 41,858,474 (GRCm39) |
V218G |
probably benign |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,953 (GRCm39) |
A328V |
probably damaging |
Het |
| Glis1 |
C |
G |
4: 107,489,571 (GRCm39) |
F719L |
probably damaging |
Het |
| Glis1 |
A |
T |
4: 107,489,572 (GRCm39) |
N720Y |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,146,107 (GRCm39) |
A546D |
probably damaging |
Het |
| Gtf3c5 |
G |
A |
2: 28,458,592 (GRCm39) |
T433I |
possibly damaging |
Het |
| Jmjd6 |
C |
A |
11: 116,734,055 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,106,891 (GRCm39) |
S49P |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,006,521 (GRCm39) |
K877* |
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,836,858 (GRCm39) |
S397R |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,262,541 (GRCm39) |
I4420N |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,783,089 (GRCm39) |
K441E |
possibly damaging |
Het |
| Minpp1 |
A |
T |
19: 32,463,359 (GRCm39) |
S7C |
possibly damaging |
Het |
| Mrps9 |
T |
A |
1: 42,901,808 (GRCm39) |
D105E |
probably damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,363,095 (GRCm39) |
A247S |
possibly damaging |
Het |
| Or52b4i |
G |
A |
7: 102,191,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,496 (GRCm39) |
V47A |
probably benign |
Het |
| Pabir1 |
G |
A |
19: 24,454,552 (GRCm39) |
R57W |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,883,026 (GRCm39) |
K790E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,430,022 (GRCm39) |
V1250I |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,516,480 (GRCm39) |
R549C |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,004 (GRCm39) |
M1056K |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,803,793 (GRCm39) |
N455K |
probably benign |
Het |
| Rhbdf1 |
T |
A |
11: 32,166,258 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,635 (GRCm39) |
V8L |
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,436,666 (GRCm39) |
V249A |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,046 (GRCm39) |
H402L |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,620,620 (GRCm39) |
N393I |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,993 (GRCm39) |
K102E |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,798 (GRCm39) |
Y353C |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,287,741 (GRCm39) |
Q2465L |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,946 (GRCm39) |
M286K |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,291,188 (GRCm39) |
N205K |
possibly damaging |
Het |
| Xkr7 |
C |
A |
2: 152,874,135 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp473 |
T |
G |
7: 44,384,000 (GRCm39) |
E111A |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,631,867 (GRCm39) |
K126E |
probably benign |
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 |
|
R7486:Pcdha12
|
UTSW |
18 |
37,154,610 (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 |
|
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'- GACATCTTCAAAACAGCGTTTGAG -3'
(R):5'- ATGCTACACTCCAAGCTCCG -3'
Sequencing Primer
(F):5'- AACAGCGTTTGAGAGGCAGTTTC -3'
(R):5'- AAGCTCCGCCCGCACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation