Incidental Mutation 'R7192:Pcdha12'
| ID |
559691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha12
|
| Ensembl Gene |
ENSMUSG00000103310 |
| Gene Name |
protocadherin alpha 12 |
| Synonyms |
Cnr5, Pcdha13, Crnr5 |
| MMRRC Submission |
045333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R7192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37153283-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37153316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 12
(R12W)
|
| 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 benign
Transcript: ENSMUST00000047614
AA Change: R12W
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: R12W
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (72/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
G |
A |
2: 30,686,188 (GRCm39) |
T329I |
probably damaging |
Het |
| Actl6a |
C |
A |
3: 32,774,373 (GRCm39) |
P290H |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,055,723 (GRCm39) |
|
probably null |
Het |
| Anxa2r2 |
T |
A |
13: 120,488,241 (GRCm39) |
K103* |
probably null |
Het |
| Bach1 |
C |
T |
16: 87,526,551 (GRCm39) |
S671L |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,633,210 (GRCm39) |
I1099V |
|
Het |
| Cage1 |
G |
T |
13: 38,203,220 (GRCm39) |
P615T |
probably benign |
Het |
| Caskin2 |
C |
A |
11: 115,692,202 (GRCm39) |
R861L |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,762,881 (GRCm39) |
T386A |
unknown |
Het |
| Ccndbp1 |
A |
G |
2: 120,843,424 (GRCm39) |
D272G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,983,599 (GRCm39) |
V1553E |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,667,033 (GRCm39) |
H414L |
probably damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,672 (GRCm39) |
G148D |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,608,432 (GRCm39) |
V1284A |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,705,667 (GRCm39) |
Y355C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,633 (GRCm39) |
V1266I |
|
Het |
| Cyfip2 |
T |
C |
11: 46,145,493 (GRCm39) |
E609G |
probably benign |
Het |
| Dbr1 |
T |
C |
9: 99,458,755 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,088,920 (GRCm39) |
Y2800H |
probably damaging |
Het |
| Dnajc6 |
G |
T |
4: 101,455,000 (GRCm39) |
A64S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,068 (GRCm39) |
N248I |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,379,569 (GRCm39) |
I2105F |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,805,965 (GRCm39) |
V89M |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,761,890 (GRCm39) |
Q528R |
probably benign |
Het |
| Epb42 |
A |
T |
2: 120,854,578 (GRCm39) |
V669D |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,034,613 (GRCm39) |
Q2755L |
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,054,475 (GRCm39) |
K135E |
possibly damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,955,201 (GRCm39) |
F325I |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,677,451 (GRCm39) |
E276K |
probably damaging |
Het |
| H4c17 |
A |
T |
13: 21,996,227 (GRCm39) |
K92* |
probably null |
Het |
| Ifi207 |
T |
C |
1: 173,556,584 (GRCm39) |
N718S |
not run |
Het |
| Il6st |
A |
G |
13: 112,631,741 (GRCm39) |
N427D |
probably benign |
Het |
| Kat7 |
T |
A |
11: 95,166,656 (GRCm39) |
M509L |
probably benign |
Het |
| Klk1b4 |
T |
C |
7: 43,859,045 (GRCm39) |
V21A |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,570,898 (GRCm39) |
L78Q |
probably benign |
Het |
| Mertk |
A |
G |
2: 128,635,028 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,796,376 (GRCm39) |
L1016P |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,863 (GRCm39) |
I411V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,627,105 (GRCm39) |
D420V |
probably damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,575 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2w2 |
A |
G |
13: 21,758,539 (GRCm39) |
L29P |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,577 (GRCm39) |
E173G |
possibly damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,542 (GRCm39) |
D174G |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,343,767 (GRCm39) |
D763Y |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,634,523 (GRCm39) |
V518A |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,335 (GRCm39) |
P433T |
unknown |
Het |
| Ptrh2 |
A |
G |
11: 86,580,835 (GRCm39) |
T151A |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,388,760 (GRCm39) |
N273K |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,717,638 (GRCm39) |
Y1154C |
probably benign |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,556 (GRCm39) |
D482V |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,357,013 (GRCm39) |
S74P |
probably benign |
Het |
| Serpinb2 |
A |
T |
1: 107,452,306 (GRCm39) |
I295F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,364,318 (GRCm39) |
D301E |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,149,348 (GRCm39) |
T1637I |
probably benign |
Het |
| Slc27a4 |
A |
T |
2: 29,695,941 (GRCm39) |
N159Y |
probably damaging |
Het |
| Stat1 |
A |
C |
1: 52,174,780 (GRCm39) |
K161Q |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,872 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,522,651 (GRCm39) |
W681R |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,062 (GRCm39) |
G687S |
probably damaging |
Het |
| Thnsl2 |
C |
T |
6: 71,116,739 (GRCm39) |
V138I |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1a |
T |
C |
6: 125,338,559 (GRCm39) |
S235P |
unknown |
Het |
| Tpbg |
T |
A |
9: 85,726,085 (GRCm39) |
L18* |
probably null |
Het |
| Trabd2b |
A |
T |
4: 114,467,217 (GRCm39) |
Q482L |
possibly damaging |
Het |
| Trim35 |
T |
A |
14: 66,534,895 (GRCm39) |
F126Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,288 (GRCm39) |
V12364D |
unknown |
Het |
| Ubac2 |
A |
G |
14: 122,211,128 (GRCm39) |
Y166C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,519 (GRCm39) |
V1320D |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,410,571 (GRCm39) |
Y2693N |
|
Het |
| Utp20 |
A |
T |
10: 88,608,321 (GRCm39) |
M1572K |
probably benign |
Het |
| Vmn1r7 |
C |
T |
6: 57,001,452 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,167,364 (GRCm39) |
G589D |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,636 (GRCm39) |
M129L |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,973,183 (GRCm39) |
T104S |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,010,275 (GRCm39) |
N390K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,884,110 (GRCm39) |
M933T |
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 |
|
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'- ATGATGTCGCTCTTCACTGC -3'
(R):5'- AAATGCCATTCTGCAGATTTACCTC -3'
Sequencing Primer
(F):5'- GAGGCAGTTTCAGGTAAG -3'
(R):5'- TCTGCAGATTTACCTCCAGAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation