Incidental Mutation 'R9189:Pcdhac2'
ID |
697651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac2
|
Ensembl Gene |
ENSMUSG00000102697 |
Gene Name |
protocadherin alpha subfamily C, 2 |
Synonyms |
CNRc2 |
MMRRC Submission |
068951-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9189 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37277316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 99
(F99L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
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: F99L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: F99L
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: 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: 99.8%
- 20x: 99.4%
|
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: 98 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
T |
A |
11: 116,065,231 (GRCm39) |
D608V |
probably damaging |
Het |
Actg1 |
A |
T |
11: 120,239,013 (GRCm39) |
C26S |
unknown |
Het |
Ahnak |
T |
A |
19: 8,988,247 (GRCm39) |
V3177E |
possibly damaging |
Het |
Akap11 |
G |
A |
14: 78,750,938 (GRCm39) |
T483I |
|
Het |
Akr1cl |
A |
G |
1: 65,063,830 (GRCm39) |
S120P |
probably benign |
Het |
Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
Ankrd55 |
A |
T |
13: 112,504,570 (GRCm39) |
I439F |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,040,635 (GRCm39) |
M9T |
possibly damaging |
Het |
Ascc1 |
A |
T |
10: 59,843,645 (GRCm39) |
Y69F |
probably benign |
Het |
Atp9a |
A |
T |
2: 168,518,060 (GRCm39) |
|
probably null |
Het |
Cd8b1 |
T |
C |
6: 71,306,752 (GRCm39) |
F160L |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,818,350 (GRCm39) |
T842A |
probably benign |
Het |
Cgnl1 |
T |
A |
9: 71,630,847 (GRCm39) |
K552* |
probably null |
Het |
Cntnap4 |
C |
T |
8: 113,602,600 (GRCm39) |
T1227M |
possibly damaging |
Het |
Cobll1 |
C |
A |
2: 64,981,333 (GRCm39) |
V86F |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,255,561 (GRCm39) |
N2419S |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,494 (GRCm39) |
L1001* |
probably null |
Het |
Diaph1 |
C |
T |
18: 38,024,162 (GRCm39) |
V559M |
unknown |
Het |
Dis3l |
A |
T |
9: 64,217,731 (GRCm39) |
H783Q |
probably benign |
Het |
Dock7 |
T |
G |
4: 98,877,350 (GRCm39) |
T1063P |
unknown |
Het |
Dsc1 |
T |
C |
18: 20,232,214 (GRCm39) |
T265A |
possibly damaging |
Het |
Eif2ak4 |
A |
T |
2: 118,258,393 (GRCm39) |
Q581L |
probably damaging |
Het |
Eprs1 |
A |
T |
1: 185,106,334 (GRCm39) |
D183V |
possibly damaging |
Het |
Fads2 |
G |
C |
19: 10,069,183 (GRCm39) |
D80E |
probably benign |
Het |
Fam167b |
G |
A |
4: 129,470,875 (GRCm39) |
R158C |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,892,976 (GRCm38) |
I682K |
possibly damaging |
Het |
Garin4 |
G |
A |
1: 190,894,900 (GRCm39) |
T581I |
possibly damaging |
Het |
Gpatch2l |
C |
T |
12: 86,291,152 (GRCm39) |
P112S |
probably benign |
Het |
Gpn1 |
T |
A |
5: 31,654,710 (GRCm39) |
H87Q |
unknown |
Het |
Greb1l |
T |
C |
18: 10,499,983 (GRCm39) |
V350A |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,724,024 (GRCm39) |
K771N |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,728,045 (GRCm39) |
S319N |
probably benign |
Het |
H2bc8 |
A |
G |
13: 23,755,761 (GRCm39) |
D52G |
probably damaging |
Het |
Hcfc2 |
G |
T |
10: 82,535,041 (GRCm39) |
A22S |
probably benign |
Het |
Hnf4a |
A |
G |
2: 163,393,497 (GRCm39) |
D39G |
probably benign |
Het |
Il6st |
C |
T |
13: 112,635,340 (GRCm39) |
T584M |
probably damaging |
Het |
Irf3 |
T |
A |
7: 44,650,246 (GRCm39) |
V254E |
possibly damaging |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Kank4 |
T |
A |
4: 98,668,289 (GRCm39) |
K53* |
probably null |
Het |
Kcnj11 |
A |
T |
7: 45,748,176 (GRCm39) |
F382L |
possibly damaging |
Het |
Kcnq3 |
T |
C |
15: 65,867,510 (GRCm39) |
Y711C |
probably damaging |
Het |
Kctd3 |
A |
G |
1: 188,704,636 (GRCm39) |
S712P |
possibly damaging |
Het |
Krt20 |
A |
G |
11: 99,323,087 (GRCm39) |
I245T |
possibly damaging |
Het |
Larp1b |
T |
C |
3: 40,925,039 (GRCm39) |
I219T |
probably damaging |
Het |
Lman2l |
A |
G |
1: 36,478,771 (GRCm39) |
F114L |
probably damaging |
Het |
Loxl2 |
T |
A |
14: 69,929,859 (GRCm39) |
Y746N |
possibly damaging |
Het |
Lrrc43 |
T |
C |
5: 123,646,109 (GRCm39) |
S628P |
probably benign |
Het |
Mroh8 |
A |
C |
2: 157,111,545 (GRCm39) |
D136E |
probably damaging |
Het |
Nek8 |
T |
A |
11: 78,063,342 (GRCm39) |
M141L |
probably benign |
Het |
Nr2e1 |
C |
A |
10: 42,454,268 (GRCm39) |
R22L |
probably damaging |
Het |
Nr6a1 |
C |
T |
2: 38,816,129 (GRCm39) |
|
probably null |
Het |
Onecut2 |
A |
G |
18: 64,473,890 (GRCm39) |
Y147C |
probably damaging |
Het |
Or1ad1 |
T |
A |
11: 50,876,166 (GRCm39) |
C213S |
probably damaging |
Het |
Or1j1 |
T |
A |
2: 36,702,214 (GRCm39) |
M297L |
possibly damaging |
Het |
Or5d37 |
A |
G |
2: 87,924,194 (GRCm39) |
F29L |
probably damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,908 (GRCm39) |
M152V |
probably benign |
Het |
Pcdhga2 |
T |
G |
18: 37,802,795 (GRCm39) |
V213G |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,519,908 (GRCm39) |
V909E |
probably benign |
Het |
Pik3r4 |
A |
T |
9: 105,547,038 (GRCm39) |
T939S |
probably benign |
Het |
Pip4k2c |
T |
C |
10: 127,035,246 (GRCm39) |
D374G |
possibly damaging |
Het |
Plxdc1 |
A |
T |
11: 97,844,788 (GRCm39) |
D252E |
probably benign |
Het |
Pm20d1 |
A |
C |
1: 131,730,115 (GRCm39) |
D218A |
probably damaging |
Het |
Polq |
C |
A |
16: 36,865,265 (GRCm39) |
Q706K |
probably damaging |
Het |
Pram1 |
A |
T |
17: 33,860,131 (GRCm39) |
I233F |
probably benign |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Prss41 |
A |
T |
17: 24,061,361 (GRCm39) |
H143Q |
probably damaging |
Het |
Ptpn21 |
A |
G |
12: 98,655,261 (GRCm39) |
Y569H |
probably damaging |
Het |
Rad17 |
T |
C |
13: 100,773,564 (GRCm39) |
K142E |
probably damaging |
Het |
Rcan3 |
T |
C |
4: 135,152,607 (GRCm39) |
E38G |
probably benign |
Het |
Rgl3 |
C |
A |
9: 21,885,356 (GRCm39) |
R658L |
possibly damaging |
Het |
Rnf125 |
T |
A |
18: 21,116,240 (GRCm39) |
*141K |
probably null |
Het |
Ros1 |
G |
T |
10: 52,019,502 (GRCm39) |
N711K |
probably damaging |
Het |
Rsph10b |
T |
A |
5: 143,896,504 (GRCm39) |
Y421N |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,776,471 (GRCm39) |
V2222I |
probably damaging |
Het |
Samsn1 |
C |
T |
16: 75,656,449 (GRCm39) |
C333Y |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,794,944 (GRCm39) |
E502K |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,533,500 (GRCm39) |
E3252D |
possibly damaging |
Het |
Syne1 |
C |
A |
10: 5,123,008 (GRCm39) |
R309S |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,172,289 (GRCm39) |
I5051V |
probably benign |
Het |
Syngap1 |
A |
G |
17: 27,183,948 (GRCm39) |
S1241G |
probably damaging |
Het |
Tbpl2 |
T |
C |
2: 23,966,030 (GRCm39) |
K321R |
probably damaging |
Het |
Tnrc18 |
C |
T |
5: 142,717,107 (GRCm39) |
G2449E |
probably damaging |
Het |
Trim25 |
A |
G |
11: 88,901,731 (GRCm39) |
D342G |
probably benign |
Het |
Tssk4 |
T |
A |
14: 55,887,904 (GRCm39) |
H33Q |
probably benign |
Het |
Ttc3 |
G |
A |
16: 94,268,831 (GRCm39) |
G1971D |
possibly damaging |
Het |
Tufm |
C |
T |
7: 126,088,849 (GRCm39) |
Q347* |
probably null |
Het |
Ubxn10 |
G |
A |
4: 138,448,133 (GRCm39) |
S181F |
possibly damaging |
Het |
Ushbp1 |
T |
C |
8: 71,841,539 (GRCm39) |
E430G |
probably benign |
Het |
Vmn1r33 |
T |
C |
6: 66,588,716 (GRCm39) |
I279M |
possibly damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,564,784 (GRCm39) |
F224L |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,663,961 (GRCm39) |
I1481V |
probably benign |
Het |
Vps35 |
T |
C |
8: 86,007,898 (GRCm39) |
N294S |
possibly damaging |
Het |
Washc3 |
A |
T |
10: 88,051,916 (GRCm39) |
T102S |
probably benign |
Het |
Zfp27 |
T |
A |
7: 29,595,359 (GRCm39) |
E202V |
possibly damaging |
Het |
Zfp58 |
T |
C |
13: 67,640,035 (GRCm39) |
H152R |
possibly damaging |
Het |
Zfr2 |
T |
C |
10: 81,080,496 (GRCm39) |
V390A |
probably damaging |
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 |
R0540:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
37,279,477 (GRCm39) |
missense |
probably benign |
|
R5615:Pcdhac2
|
UTSW |
18 |
37,279,476 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
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'- AGTCGCAGAAAATCGAGACC -3'
(R):5'- TGAAGCTGATAATCCGGCCG -3'
Sequencing Primer
(F):5'- AGCCCTTGAGAACGCTTG -3'
(R):5'- ATAATCCGGCCGCGGGAAG -3'
|
Posted On |
2022-02-07 |