Incidental Mutation 'R4993:Pcdhac2'
ID |
385058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac2
|
Ensembl Gene |
ENSMUSG00000102697 |
Gene Name |
protocadherin alpha subfamily C, 2 |
Synonyms |
CNRc2 |
MMRRC Submission |
042587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4993 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 37279304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 761
(N761K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000192503]
[ENSMUST00000193777]
[ENSMUST00000115661]
[ENSMUST00000194038]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000115662]
[ENSMUST00000192447]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193839]
[ENSMUST00000192295]
[ENSMUST00000195590]
[ENSMUST00000194544]
[ENSMUST00000194751]
|
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 damaging
Transcript: ENSMUST00000047479
AA Change: N761K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: N761K
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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000193856
|
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: ENSMUST00000193984
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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] 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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
9130008F23Rik |
G |
T |
17: 41,191,052 (GRCm39) |
Q126K |
probably benign |
Het |
Abca15 |
C |
A |
7: 120,000,941 (GRCm39) |
N1492K |
probably damaging |
Het |
Afap1l2 |
C |
T |
19: 56,906,472 (GRCm39) |
D402N |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,750,408 (GRCm39) |
F660L |
probably damaging |
Het |
Bcl3 |
T |
C |
7: 19,554,102 (GRCm39) |
T89A |
probably benign |
Het |
Bub1b |
T |
C |
2: 118,467,251 (GRCm39) |
I858T |
possibly damaging |
Het |
Cdk19 |
A |
G |
10: 40,352,214 (GRCm39) |
D288G |
possibly damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,502,530 (GRCm39) |
D202V |
probably damaging |
Het |
Dip2c |
T |
G |
13: 9,625,259 (GRCm39) |
Y584* |
probably null |
Het |
Dpf3 |
A |
T |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
Emid1 |
G |
T |
11: 5,081,512 (GRCm39) |
Q212K |
probably benign |
Het |
Esm1 |
C |
T |
13: 113,349,933 (GRCm39) |
Q118* |
probably null |
Het |
Fahd2a |
T |
G |
2: 127,278,284 (GRCm39) |
I308L |
probably benign |
Het |
Fanci |
T |
C |
7: 79,085,126 (GRCm39) |
*851Q |
probably null |
Het |
Fastkd1 |
C |
A |
2: 69,533,084 (GRCm39) |
V428F |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,173,918 (GRCm39) |
I2265N |
probably damaging |
Het |
Gale |
C |
A |
4: 135,694,171 (GRCm39) |
H191Q |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,426,403 (GRCm39) |
V153E |
possibly damaging |
Het |
Gpc6 |
A |
G |
14: 117,861,951 (GRCm39) |
N289S |
possibly damaging |
Het |
Hoxb6 |
A |
T |
11: 96,191,537 (GRCm39) |
Y153F |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,322,814 (GRCm39) |
T139A |
probably benign |
Het |
Irf2bp2 |
A |
G |
8: 127,319,410 (GRCm39) |
S256P |
probably benign |
Het |
Klf4 |
G |
T |
4: 55,530,640 (GRCm39) |
P148Q |
probably damaging |
Het |
Loxl1 |
T |
G |
9: 58,219,820 (GRCm39) |
H117P |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,348,445 (GRCm39) |
K225E |
probably benign |
Het |
Lrba |
T |
A |
3: 86,267,344 (GRCm39) |
V1678D |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,054,730 (GRCm39) |
F398Y |
probably damaging |
Het |
Mfap2 |
T |
C |
4: 140,742,889 (GRCm39) |
*186Q |
probably null |
Het |
Mfsd3 |
T |
C |
15: 76,586,182 (GRCm39) |
L105P |
probably damaging |
Het |
Mlxip |
T |
G |
5: 123,533,357 (GRCm39) |
I122S |
probably damaging |
Het |
Mmrn2 |
A |
T |
14: 34,118,355 (GRCm39) |
Y107F |
probably damaging |
Het |
Mtg1 |
G |
T |
7: 139,720,196 (GRCm39) |
D88Y |
probably null |
Het |
Mutyh |
T |
A |
4: 116,675,132 (GRCm39) |
S426R |
probably benign |
Het |
Myo16 |
C |
T |
8: 10,526,094 (GRCm39) |
T878I |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,768,755 (GRCm39) |
Y912* |
probably null |
Het |
Ncor1 |
A |
C |
11: 62,234,167 (GRCm39) |
I669R |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,202,935 (GRCm39) |
I210V |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,357,194 (GRCm39) |
C657R |
probably damaging |
Het |
Noct |
C |
T |
3: 51,157,442 (GRCm39) |
T260I |
probably damaging |
Het |
Nr1h4 |
A |
T |
10: 89,334,042 (GRCm39) |
M102K |
probably benign |
Het |
Obscn |
G |
A |
11: 59,015,587 (GRCm39) |
R1054C |
possibly damaging |
Het |
Or10ag58 |
T |
A |
2: 87,265,496 (GRCm39) |
F222I |
probably benign |
Het |
Or1j20 |
C |
A |
2: 36,760,000 (GRCm39) |
Q141K |
probably benign |
Het |
Or2a57 |
A |
G |
6: 43,213,390 (GRCm39) |
M283V |
possibly damaging |
Het |
Or51ah3 |
T |
A |
7: 103,210,524 (GRCm39) |
I280N |
possibly damaging |
Het |
Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
Or5p75-ps1 |
G |
A |
7: 108,107,450 (GRCm39) |
M62I |
probably damaging |
Het |
Otol1 |
C |
A |
3: 69,926,211 (GRCm39) |
Q129K |
probably benign |
Het |
Otx1 |
A |
T |
11: 21,948,532 (GRCm39) |
|
probably null |
Het |
Pde1c |
A |
T |
6: 56,127,609 (GRCm39) |
M452K |
probably damaging |
Het |
Phkg2 |
T |
C |
7: 127,173,113 (GRCm39) |
Y24H |
probably damaging |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Prg4 |
C |
T |
1: 150,336,432 (GRCm39) |
C97Y |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,093,352 (GRCm39) |
V64A |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,289,231 (GRCm39) |
K324E |
probably damaging |
Het |
Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
Riiad1 |
T |
C |
3: 94,380,170 (GRCm39) |
T42A |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,317,841 (GRCm39) |
V640A |
possibly damaging |
Het |
Rnpep |
G |
T |
1: 135,190,770 (GRCm39) |
S592Y |
possibly damaging |
Het |
Scap |
T |
C |
9: 110,207,458 (GRCm39) |
L431P |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,915,281 (GRCm39) |
I1437F |
possibly damaging |
Het |
Skic3 |
T |
A |
13: 76,331,055 (GRCm39) |
M1495K |
probably damaging |
Het |
Skint1 |
T |
C |
4: 111,885,530 (GRCm39) |
|
probably null |
Het |
Slc44a1 |
A |
G |
4: 53,543,644 (GRCm39) |
E396G |
probably damaging |
Het |
Slc4a2 |
T |
C |
5: 24,639,867 (GRCm39) |
F521S |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 110,004,129 (GRCm39) |
S394R |
probably damaging |
Het |
Socs1 |
A |
G |
16: 10,602,549 (GRCm39) |
S63P |
probably benign |
Het |
Spopfm2 |
C |
T |
3: 94,083,623 (GRCm39) |
G63R |
probably damaging |
Het |
Sun1 |
T |
G |
5: 139,211,088 (GRCm39) |
S20A |
possibly damaging |
Het |
Tac4 |
A |
T |
11: 95,156,068 (GRCm39) |
K50* |
probably null |
Het |
Tasor |
T |
A |
14: 27,151,071 (GRCm39) |
W16R |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,619,574 (GRCm39) |
I151T |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,814,840 (GRCm39) |
V587A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,571,253 (GRCm39) |
K24801* |
probably null |
Het |
Tuba3b |
G |
T |
6: 145,566,999 (GRCm39) |
M413I |
possibly damaging |
Het |
Ufl1 |
C |
T |
4: 25,267,832 (GRCm39) |
A280T |
possibly damaging |
Het |
Ugt2b5 |
T |
A |
5: 87,287,532 (GRCm39) |
I212L |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,205,459 (GRCm39) |
T685A |
probably benign |
Het |
Uqcrc1 |
T |
A |
9: 108,773,878 (GRCm39) |
V183D |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,642,917 (GRCm39) |
N4093S |
probably benign |
Het |
Vmn1r167 |
C |
T |
7: 23,204,653 (GRCm39) |
S121N |
probably damaging |
Het |
Vmn1r47 |
A |
G |
6: 89,999,740 (GRCm39) |
S291G |
possibly damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,701,449 (GRCm39) |
V17A |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,487,176 (GRCm39) |
H573L |
probably benign |
Het |
Xirp1 |
C |
T |
9: 119,847,858 (GRCm39) |
V342I |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,051,204 (GRCm39) |
M2226V |
possibly damaging |
Het |
Zfp467 |
G |
A |
6: 48,415,963 (GRCm39) |
H230Y |
probably damaging |
Het |
Zfp595 |
T |
A |
13: 67,464,465 (GRCm39) |
K599N |
probably damaging |
Het |
Zfp819 |
C |
A |
7: 43,266,720 (GRCm39) |
T401K |
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 |
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 |
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'- TCGGACATACTCTGAGATCACAC -3'
(R):5'- AGTTGCCTGTTGTCAGTCAC -3'
Sequencing Primer
(F):5'- GACATACTCTGAGATCACACTTTATC -3'
(R):5'- CCTGTTGTCAGTCACTGAGGC -3'
|
Posted On |
2016-05-10 |