Incidental Mutation 'R5568:Pcdha12'
| ID |
437071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha12
|
| Ensembl Gene |
ENSMUSG00000103310 |
| Gene Name |
protocadherin alpha 12 |
| Synonyms |
Cnr5, Pcdha13, Crnr5 |
| MMRRC Submission |
043125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37153283-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37153443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 54
(L54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000192631]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047614
AA Change: L54P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: L54P
| 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 |
noncoding transcript
Transcript: ENSMUST00000097612
|
| 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: ENSMUST00000193856
|
| 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,349,364 (GRCm39) |
V207A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,614,834 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
C |
6: 142,634,742 (GRCm39) |
V174G |
possibly damaging |
Het |
| Abl1 |
C |
T |
2: 31,669,086 (GRCm39) |
A155V |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,787,787 (GRCm39) |
D212E |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,973,529 (GRCm39) |
M491K |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,929,988 (GRCm39) |
|
probably benign |
Het |
| Atf7 |
A |
G |
15: 102,471,757 (GRCm39) |
I46T |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,497,612 (GRCm39) |
S2100P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,775,137 (GRCm39) |
D501V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,866,433 (GRCm39) |
M748V |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,662 (GRCm39) |
T71A |
probably damaging |
Het |
| Chmp2a |
T |
C |
7: 12,767,758 (GRCm39) |
M56V |
probably benign |
Het |
| Cilp |
A |
C |
9: 65,187,515 (GRCm39) |
R1203S |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,556,322 (GRCm39) |
K53* |
probably null |
Het |
| Crhbp |
T |
A |
13: 95,578,737 (GRCm39) |
D128V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,820,495 (GRCm39) |
I292N |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,677,526 (GRCm39) |
I488N |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,456 (GRCm39) |
M149L |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,390,547 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,871,439 (GRCm39) |
H512R |
possibly damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,604,821 (GRCm39) |
*993K |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,330,643 (GRCm39) |
|
probably null |
Het |
| Dus4l |
A |
T |
12: 31,696,712 (GRCm39) |
F88L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,904,071 (GRCm39) |
V176E |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,219 (GRCm39) |
K435* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,816,908 (GRCm39) |
C4214R |
probably benign |
Het |
| Garin5a |
T |
G |
7: 44,150,428 (GRCm39) |
S207A |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,072,087 (GRCm39) |
*394W |
probably null |
Het |
| Glis1 |
T |
C |
4: 107,476,832 (GRCm39) |
S518P |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,079 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,679 (GRCm39) |
T35A |
possibly damaging |
Het |
| Ighv5-12 |
A |
G |
12: 113,665,837 (GRCm39) |
F87S |
probably damaging |
Het |
| Ints13 |
A |
C |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,609 (GRCm39) |
D74N |
probably damaging |
Het |
| Klrb1c |
A |
G |
6: 128,765,877 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
A |
T |
19: 3,836,538 (GRCm39) |
H25L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,262,210 (GRCm39) |
M260K |
probably damaging |
Het |
| Krt79 |
A |
G |
15: 101,838,220 (GRCm39) |
S512P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,075,293 (GRCm39) |
|
probably null |
Het |
| Maneal |
T |
C |
4: 124,750,937 (GRCm39) |
E273G |
possibly damaging |
Het |
| Map4k3 |
T |
A |
17: 80,971,427 (GRCm39) |
Y80F |
possibly damaging |
Het |
| Mbd6 |
A |
G |
10: 127,119,297 (GRCm39) |
V946A |
possibly damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,219,936 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
C |
G |
7: 78,430,242 (GRCm39) |
W176S |
probably damaging |
Het |
| Muc19 |
A |
G |
15: 91,768,468 (GRCm39) |
|
noncoding transcript |
Het |
| Mup3 |
T |
G |
4: 62,002,809 (GRCm39) |
E184A |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,781,911 (GRCm39) |
H1699R |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,144,420 (GRCm39) |
T269S |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,693,037 (GRCm39) |
V688D |
probably benign |
Het |
| Ninj2 |
T |
C |
6: 120,175,670 (GRCm39) |
I101T |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,224,510 (GRCm39) |
L296I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,983 (GRCm39) |
L28P |
probably benign |
Het |
| Or52r1b |
G |
T |
7: 102,691,517 (GRCm39) |
R272L |
possibly damaging |
Het |
| Pacsin1 |
T |
A |
17: 27,927,022 (GRCm39) |
D242E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,330,420 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,853 (GRCm39) |
S728T |
probably benign |
Het |
| Phyhd1 |
T |
A |
2: 30,167,022 (GRCm39) |
H108Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,212,513 (GRCm39) |
I1035F |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,735,309 (GRCm39) |
S217P |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,852,425 (GRCm39) |
R103H |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,041,638 (GRCm39) |
T1722I |
probably damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,668 (GRCm39) |
N53S |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,841,488 (GRCm39) |
N140K |
possibly damaging |
Het |
| Rab12 |
C |
T |
17: 66,804,418 (GRCm39) |
R180H |
probably damaging |
Het |
| Rab36 |
G |
T |
10: 74,888,311 (GRCm39) |
V252L |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,008,543 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,011,308 (GRCm39) |
L259P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,222,140 (GRCm39) |
M380L |
probably benign |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,288,142 (GRCm39) |
F178S |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,356,250 (GRCm39) |
S87P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,194,823 (GRCm39) |
D834V |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,203,874 (GRCm39) |
Y540* |
probably null |
Het |
| Srpk2 |
T |
A |
5: 23,730,697 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,031,901 (GRCm39) |
M271K |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,867,592 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Tfg |
T |
C |
16: 56,521,450 (GRCm39) |
T63A |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,339,715 (GRCm39) |
|
probably null |
Het |
| Ticrr |
T |
A |
7: 79,345,044 (GRCm39) |
C1636* |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,219,147 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,777 (GRCm39) |
E138G |
probably damaging |
Het |
| Tpm2 |
C |
A |
4: 43,522,692 (GRCm39) |
E75* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,580,922 (GRCm39) |
T23324P |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,119,349 (GRCm39) |
L176R |
probably damaging |
Het |
| Uhrf2 |
G |
T |
19: 30,016,488 (GRCm39) |
D46Y |
probably damaging |
Het |
| Ulbp1 |
A |
C |
10: 7,423,281 (GRCm39) |
S21A |
unknown |
Het |
| Usp17lb |
C |
T |
7: 104,490,415 (GRCm39) |
G170R |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,790 (GRCm39) |
E2918V |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,919 (GRCm39) |
I195K |
probably damaging |
Het |
| Vmn1r76 |
C |
T |
7: 11,665,062 (GRCm39) |
V16I |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,250,880 (GRCm39) |
D24G |
possibly damaging |
Het |
| Xylb |
T |
A |
9: 119,190,198 (GRCm39) |
H68Q |
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 |
|
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 |
|
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'- ACCGTATCTTTCTGCGTGTG -3'
(R):5'- AGGTGGATTGTCATTAATGTCCC -3'
Sequencing Primer
(F):5'- GTACCATGCTATTATTCTCGCAAAGC -3'
(R):5'- TCCACGTGGAAAACCTGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation