Incidental Mutation 'R0540:Pcdhac2'
ID |
49880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac2
|
Ensembl Gene |
ENSMUSG00000102697 |
Gene Name |
protocadherin alpha subfamily C, 2 |
Synonyms |
CNRc2 |
MMRRC Submission |
038732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0540 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37278942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 641
(I641V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115661]
[ENSMUST00000192503]
[ENSMUST00000115659]
[ENSMUST00000192447]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000192295]
[ENSMUST00000192631]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
[ENSMUST00000194038]
|
AlphaFold |
Q91Y09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007584
|
SMART Domains |
Protein: ENSMUSP00000007584 Gene: ENSMUSG00000103255
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 benign
Transcript: ENSMUST00000047479
AA Change: I641V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: I641V
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 |
probably benign
Transcript: ENSMUST00000047614
|
SMART Domains |
Protein: ENSMUSP00000047609 Gene: ENSMUSG00000103310
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: 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: 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: 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: 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193856
|
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: ENSMUST00000193984
|
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.7%
|
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] PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no apparent gross phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 101 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,926,627 (GRCm39) |
T199A |
possibly damaging |
Het |
Als2cl |
C |
A |
9: 110,724,852 (GRCm39) |
Y775* |
probably null |
Het |
Ankhd1 |
G |
T |
18: 36,773,333 (GRCm39) |
V59F |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,859,806 (GRCm39) |
I395F |
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
Arl9 |
A |
G |
5: 77,155,118 (GRCm39) |
Y83C |
possibly damaging |
Het |
Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
Atxn1 |
G |
A |
13: 45,711,006 (GRCm39) |
S642L |
probably damaging |
Het |
Bmp8a |
A |
G |
4: 123,209,723 (GRCm39) |
Y322H |
probably damaging |
Het |
Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,319,749 (GRCm39) |
Y146* |
probably null |
Het |
Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
Cd209e |
T |
C |
8: 3,901,265 (GRCm39) |
K130E |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,235,184 (GRCm39) |
D2054G |
probably damaging |
Het |
Chrna1 |
T |
C |
2: 73,401,815 (GRCm39) |
N161S |
probably damaging |
Het |
Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
Cpsf7 |
G |
T |
19: 10,510,682 (GRCm39) |
E135* |
probably null |
Het |
Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
Cspg5 |
T |
C |
9: 110,076,460 (GRCm39) |
|
probably null |
Het |
Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
Cyp2b13 |
G |
A |
7: 25,781,136 (GRCm39) |
V183I |
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
Dlg1 |
G |
A |
16: 31,656,992 (GRCm39) |
V596I |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
Edn3 |
C |
A |
2: 174,602,767 (GRCm39) |
P3Q |
probably damaging |
Het |
Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
Exo5 |
A |
G |
4: 120,779,178 (GRCm39) |
V229A |
probably damaging |
Het |
Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,727,015 (GRCm39) |
V624A |
probably benign |
Het |
Git2 |
A |
G |
5: 114,886,335 (GRCm39) |
F336L |
probably damaging |
Het |
Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
Ints8 |
A |
G |
4: 11,252,926 (GRCm39) |
V52A |
possibly damaging |
Het |
Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
Kmt5a |
T |
A |
5: 124,589,373 (GRCm39) |
N190K |
probably damaging |
Het |
Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,536,967 (GRCm39) |
I251K |
possibly damaging |
Het |
Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
Lrrc45 |
C |
T |
11: 120,605,988 (GRCm39) |
R99* |
probably null |
Het |
Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
Mllt3 |
G |
A |
4: 87,759,281 (GRCm39) |
P256S |
possibly damaging |
Het |
Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
Myo7a |
T |
A |
7: 97,721,153 (GRCm39) |
T1271S |
probably damaging |
Het |
Ncan |
C |
A |
8: 70,567,809 (GRCm39) |
R101L |
possibly damaging |
Het |
Ndufaf7 |
A |
G |
17: 79,253,885 (GRCm39) |
D361G |
probably benign |
Het |
Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
Nexn |
T |
A |
3: 151,953,879 (GRCm39) |
K192* |
probably null |
Het |
Nipsnap2 |
A |
T |
5: 129,831,909 (GRCm39) |
Y234F |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
Nprl2 |
A |
T |
9: 107,422,497 (GRCm39) |
Y329F |
possibly damaging |
Het |
Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
Nsun7 |
A |
T |
5: 66,440,977 (GRCm39) |
K366I |
probably damaging |
Het |
Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,829 (GRCm39) |
F15L |
probably damaging |
Het |
Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
Or2w2 |
T |
A |
13: 21,757,948 (GRCm39) |
Y226F |
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
Peli3 |
T |
C |
19: 4,991,939 (GRCm39) |
M1V |
probably null |
Het |
Pex16 |
T |
A |
2: 92,205,982 (GRCm39) |
L25* |
probably null |
Het |
Plekhn1 |
C |
A |
4: 156,307,204 (GRCm39) |
A449S |
possibly damaging |
Het |
Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
Prdx6 |
A |
C |
1: 161,078,673 (GRCm39) |
L5W |
probably damaging |
Het |
Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
Rgs6 |
C |
A |
12: 83,106,578 (GRCm39) |
Y151* |
probably null |
Het |
Ripk4 |
A |
C |
16: 97,545,375 (GRCm39) |
L361R |
probably damaging |
Het |
Serpinb3d |
C |
T |
1: 107,006,962 (GRCm39) |
D249N |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,630,224 (GRCm39) |
|
probably null |
Het |
Smg7 |
A |
T |
1: 152,731,713 (GRCm39) |
N349K |
probably benign |
Het |
Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
Srsf10 |
A |
G |
4: 135,591,179 (GRCm39) |
T210A |
possibly damaging |
Het |
Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,938,692 (GRCm39) |
V49E |
probably damaging |
Het |
Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,980,450 (GRCm39) |
|
probably null |
Het |
Usp28 |
A |
G |
9: 48,935,360 (GRCm39) |
I104V |
probably benign |
Het |
Vmn1r64 |
A |
G |
7: 5,887,096 (GRCm39) |
L149S |
probably damaging |
Het |
Yme1l1 |
T |
A |
2: 23,082,527 (GRCm39) |
M506K |
possibly damaging |
Het |
Zfp280d |
T |
A |
9: 72,215,247 (GRCm39) |
F98I |
probably damaging |
Het |
Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
probably benign |
Het |
|
Other mutations in Pcdhac2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Pcdhac2
|
APN |
18 |
37,278,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Pcdhac2
|
APN |
18 |
37,279,339 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02302:Pcdhac2
|
APN |
18 |
37,279,006 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02381:Pcdhac2
|
APN |
18 |
37,277,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02644:Pcdhac2
|
APN |
18 |
37,278,232 (GRCm39) |
missense |
probably benign |
|
IGL02645:Pcdhac2
|
APN |
18 |
37,278,292 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03087:Pcdhac2
|
APN |
18 |
37,278,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Pcdhac2
|
UTSW |
18 |
37,278,290 (GRCm39) |
missense |
probably benign |
0.21 |
R0374:Pcdhac2
|
UTSW |
18 |
37,278,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0589:Pcdhac2
|
UTSW |
18 |
37,279,527 (GRCm39) |
missense |
probably benign |
|
R0607:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
R1537:Pcdhac2
|
UTSW |
18 |
37,279,539 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1545:Pcdhac2
|
UTSW |
18 |
37,279,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1878:Pcdhac2
|
UTSW |
18 |
37,278,215 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2139:Pcdhac2
|
UTSW |
18 |
37,279,139 (GRCm39) |
nonsense |
probably null |
|
R2197:Pcdhac2
|
UTSW |
18 |
37,279,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Pcdhac2
|
UTSW |
18 |
37,278,639 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2882:Pcdhac2
|
UTSW |
18 |
37,278,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R3719:Pcdhac2
|
UTSW |
18 |
37,279,288 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4256:Pcdhac2
|
UTSW |
18 |
37,277,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Pcdhac2
|
UTSW |
18 |
37,277,499 (GRCm39) |
missense |
probably benign |
0.00 |
R4426:Pcdhac2
|
UTSW |
18 |
37,277,796 (GRCm39) |
missense |
probably benign |
0.00 |
R4698:Pcdhac2
|
UTSW |
18 |
37,278,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Pcdhac2
|
UTSW |
18 |
37,278,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4950:Pcdhac2
|
UTSW |
18 |
37,278,283 (GRCm39) |
missense |
probably benign |
0.06 |
R4993:Pcdhac2
|
UTSW |
18 |
37,279,304 (GRCm39) |
missense |
probably damaging |
0.96 |
R5127:Pcdhac2
|
UTSW |
18 |
37,277,352 (GRCm39) |
nonsense |
probably null |
|
R5446:Pcdhac2
|
UTSW |
18 |
37,278,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5598:Pcdhac2
|
UTSW |
18 |
37,277,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R5615:Pcdhac2
|
UTSW |
18 |
37,279,476 (GRCm39) |
missense |
probably benign |
0.22 |
R5615:Pcdhac2
|
UTSW |
18 |
37,279,477 (GRCm39) |
missense |
probably benign |
|
R5620:Pcdhac2
|
UTSW |
18 |
37,277,257 (GRCm39) |
missense |
probably benign |
|
R5661:Pcdhac2
|
UTSW |
18 |
37,278,499 (GRCm39) |
missense |
probably damaging |
0.97 |
R5760:Pcdhac2
|
UTSW |
18 |
37,279,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R6102:Pcdhac2
|
UTSW |
18 |
37,279,335 (GRCm39) |
nonsense |
probably null |
|
R6310:Pcdhac2
|
UTSW |
18 |
37,278,824 (GRCm39) |
nonsense |
probably null |
|
R6493:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6695:Pcdhac2
|
UTSW |
18 |
37,278,256 (GRCm39) |
missense |
probably benign |
0.00 |
R6827:Pcdhac2
|
UTSW |
18 |
37,277,706 (GRCm39) |
missense |
probably benign |
0.03 |
R6953:Pcdhac2
|
UTSW |
18 |
37,277,479 (GRCm39) |
missense |
probably benign |
|
R7140:Pcdhac2
|
UTSW |
18 |
37,277,239 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7162:Pcdhac2
|
UTSW |
18 |
37,278,840 (GRCm39) |
missense |
probably benign |
0.13 |
R7242:Pcdhac2
|
UTSW |
18 |
37,277,946 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7325:Pcdhac2
|
UTSW |
18 |
37,278,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Pcdhac2
|
UTSW |
18 |
37,277,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Pcdhac2
|
UTSW |
18 |
37,278,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
R8072:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
R8079:Pcdhac2
|
UTSW |
18 |
37,279,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R8272:Pcdhac2
|
UTSW |
18 |
37,279,242 (GRCm39) |
missense |
probably benign |
0.30 |
R8489:Pcdhac2
|
UTSW |
18 |
37,278,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Pcdhac2
|
UTSW |
18 |
37,277,071 (GRCm39) |
missense |
probably benign |
|
R9035:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Pcdhac2
|
UTSW |
18 |
37,277,316 (GRCm39) |
missense |
probably benign |
0.00 |
R9262:Pcdhac2
|
UTSW |
18 |
37,279,095 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9626:Pcdhac2
|
UTSW |
18 |
37,279,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R9688:Pcdhac2
|
UTSW |
18 |
37,277,628 (GRCm39) |
missense |
probably benign |
0.01 |
T0970:Pcdhac2
|
UTSW |
18 |
37,278,388 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTCCATTAACAGTGCCAGCGG -3'
(R):5'- GTGCCATAAGCAGTGTAGCGGTAG -3'
Sequencing Primer
(F):5'- TAAGCAGCACTGTGACCG -3'
(R):5'- CGGTAGCACTTAATGATGCTCAG -3'
|
Posted On |
2013-06-12 |