Incidental Mutation 'R8088:Pcdhac1'
ID |
629816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac1
|
Ensembl Gene |
ENSMUSG00000103255 |
Gene Name |
protocadherin alpha subfamily C, 1 |
Synonyms |
CNRc1 |
MMRRC Submission |
067521-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8088 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37223189-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37224807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 540
(V540A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y10 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007584
AA Change: V540A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000007584 Gene: ENSMUSG00000103255 AA Change: V540A
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: 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 96.8%
|
Validation Efficiency |
100% (69/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2c1 |
A |
T |
9: 105,329,768 (GRCm39) |
|
probably null |
Het |
Ccdc134 |
T |
A |
15: 82,015,990 (GRCm39) |
|
probably benign |
Het |
Ccdc162 |
G |
T |
10: 41,499,410 (GRCm39) |
H1066Q |
possibly damaging |
Het |
Ccna1 |
A |
G |
3: 54,958,492 (GRCm39) |
S64P |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,215,802 (GRCm39) |
M453V |
probably benign |
Het |
Defb12 |
T |
C |
8: 19,162,837 (GRCm39) |
|
probably null |
Het |
Dhx9 |
C |
A |
1: 153,338,443 (GRCm39) |
V738L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,831,330 (GRCm39) |
N843S |
probably benign |
Het |
Dspp |
A |
G |
5: 104,325,122 (GRCm39) |
D495G |
unknown |
Het |
Dus2 |
A |
G |
8: 106,757,073 (GRCm39) |
M88V |
probably benign |
Het |
Dusp13b |
A |
G |
14: 21,791,305 (GRCm39) |
V49A |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,889,072 (GRCm39) |
I4163L |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
Entpd3 |
A |
C |
9: 120,383,239 (GRCm39) |
R91S |
probably benign |
Het |
Fam83c |
C |
A |
2: 155,673,559 (GRCm39) |
V210F |
probably damaging |
Het |
Flot1 |
G |
A |
17: 36,140,870 (GRCm39) |
A287T |
probably damaging |
Het |
Gm19410 |
A |
G |
8: 36,273,995 (GRCm39) |
K1412E |
probably benign |
Het |
Gsn |
G |
A |
2: 35,182,659 (GRCm39) |
V241M |
possibly damaging |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Heatr5a |
T |
C |
12: 51,994,779 (GRCm39) |
D451G |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,316,915 (GRCm39) |
W3831* |
probably null |
Het |
Il3 |
A |
G |
11: 54,156,375 (GRCm39) |
V119A |
probably benign |
Het |
Jam3 |
T |
C |
9: 27,010,156 (GRCm39) |
K276R |
probably benign |
Het |
Kcnt1 |
G |
A |
2: 25,784,326 (GRCm39) |
G277D |
possibly damaging |
Het |
Kif28 |
T |
A |
1: 179,527,919 (GRCm39) |
D744V |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Loxhd1 |
T |
C |
18: 77,429,709 (GRCm39) |
I535T |
possibly damaging |
Het |
Lzts1 |
A |
C |
8: 69,588,474 (GRCm39) |
L494R |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,042,795 (GRCm39) |
V347A |
probably damaging |
Het |
Mff |
A |
G |
1: 82,729,370 (GRCm39) |
E270G |
probably damaging |
Het |
Mroh2b |
A |
T |
15: 4,929,985 (GRCm39) |
I24F |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,430,596 (GRCm39) |
Y8102* |
probably null |
Het |
Myh14 |
A |
T |
7: 44,314,920 (GRCm39) |
M1K |
probably null |
Het |
Myo18b |
T |
A |
5: 113,027,376 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,245,873 (GRCm39) |
P502T |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,194,997 (GRCm39) |
W484* |
probably null |
Het |
Or2y3 |
T |
A |
17: 38,393,452 (GRCm39) |
H139L |
possibly damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,602 (GRCm39) |
I104N |
probably benign |
Het |
Pcdhga9 |
A |
G |
18: 37,870,007 (GRCm39) |
|
probably benign |
Het |
Pm20d1 |
A |
C |
1: 131,729,501 (GRCm39) |
N176T |
probably benign |
Het |
Pnldc1 |
T |
C |
17: 13,116,189 (GRCm39) |
D271G |
probably damaging |
Het |
Pold3 |
A |
G |
7: 99,761,508 (GRCm39) |
V63A |
probably damaging |
Het |
Rbm18 |
A |
C |
2: 36,017,196 (GRCm39) |
S61A |
probably benign |
Het |
Rdh14 |
T |
C |
12: 10,444,551 (GRCm39) |
L134P |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rtel1 |
A |
G |
2: 180,964,138 (GRCm39) |
T46A |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,412,363 (GRCm39) |
I823V |
probably damaging |
Het |
S1pr1 |
A |
G |
3: 115,505,683 (GRCm39) |
S304P |
probably damaging |
Het |
Scfd2 |
A |
G |
5: 74,692,024 (GRCm39) |
V86A |
probably benign |
Het |
Scgb1a1 |
C |
T |
19: 9,062,599 (GRCm39) |
V66M |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,526,721 (GRCm39) |
M46K |
|
Het |
Sgsm1 |
A |
G |
5: 113,403,134 (GRCm39) |
M971T |
probably damaging |
Het |
Slc5a11 |
T |
C |
7: 122,864,951 (GRCm39) |
I419T |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,394,431 (GRCm39) |
T372S |
possibly damaging |
Het |
Slx9 |
T |
C |
10: 77,350,229 (GRCm39) |
N53S |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,068,679 (GRCm39) |
Y276N |
probably benign |
Het |
Sprr2k |
C |
T |
3: 92,340,796 (GRCm39) |
R49W |
unknown |
Het |
Sspo |
G |
A |
6: 48,434,547 (GRCm39) |
C1013Y |
probably damaging |
Het |
Ssr2 |
A |
G |
3: 88,487,190 (GRCm39) |
R2G |
possibly damaging |
Het |
St18 |
C |
A |
1: 6,898,229 (GRCm39) |
T677K |
probably benign |
Het |
Thap11 |
A |
T |
8: 106,582,527 (GRCm39) |
I179F |
probably damaging |
Het |
Trf |
C |
A |
9: 103,089,130 (GRCm39) |
G586C |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,192,770 (GRCm39) |
N299S |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,351,595 (GRCm39) |
A55E |
probably damaging |
Het |
|
Other mutations in Pcdhac1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
G1patch:Pcdhac1
|
UTSW |
18 |
37,223,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R2418:Pcdhac1
|
UTSW |
18 |
37,224,381 (GRCm39) |
missense |
probably benign |
0.12 |
R2419:Pcdhac1
|
UTSW |
18 |
37,224,381 (GRCm39) |
missense |
probably benign |
0.12 |
R3876:Pcdhac1
|
UTSW |
18 |
37,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R4234:Pcdhac1
|
UTSW |
18 |
37,224,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Pcdhac1
|
UTSW |
18 |
37,224,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Pcdhac1
|
UTSW |
18 |
37,224,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Pcdhac1
|
UTSW |
18 |
37,224,231 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4996:Pcdhac1
|
UTSW |
18 |
37,225,580 (GRCm39) |
nonsense |
probably null |
|
R5093:Pcdhac1
|
UTSW |
18 |
37,223,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R5111:Pcdhac1
|
UTSW |
18 |
37,224,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R5116:Pcdhac1
|
UTSW |
18 |
37,224,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R5203:Pcdhac1
|
UTSW |
18 |
37,224,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R5659:Pcdhac1
|
UTSW |
18 |
37,225,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5679:Pcdhac1
|
UTSW |
18 |
37,225,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5765:Pcdhac1
|
UTSW |
18 |
37,223,372 (GRCm39) |
nonsense |
probably null |
|
R6536:Pcdhac1
|
UTSW |
18 |
37,223,367 (GRCm39) |
missense |
probably benign |
0.00 |
R6725:Pcdhac1
|
UTSW |
18 |
37,223,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Pcdhac1
|
UTSW |
18 |
37,223,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R6772:Pcdhac1
|
UTSW |
18 |
37,223,289 (GRCm39) |
missense |
probably benign |
0.05 |
R6870:Pcdhac1
|
UTSW |
18 |
37,225,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Pcdhac1
|
UTSW |
18 |
37,225,550 (GRCm39) |
missense |
probably benign |
|
R7809:Pcdhac1
|
UTSW |
18 |
37,224,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8201:Pcdhac1
|
UTSW |
18 |
37,223,892 (GRCm39) |
missense |
probably benign |
0.16 |
R8400:Pcdhac1
|
UTSW |
18 |
37,225,453 (GRCm39) |
nonsense |
probably null |
|
R8787:Pcdhac1
|
UTSW |
18 |
37,224,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R9349:Pcdhac1
|
UTSW |
18 |
37,224,021 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9733:Pcdhac1
|
UTSW |
18 |
37,225,506 (GRCm39) |
missense |
probably benign |
|
Z1088:Pcdhac1
|
UTSW |
18 |
37,225,619 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Pcdhac1
|
UTSW |
18 |
37,225,243 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhac1
|
UTSW |
18 |
37,225,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCTGGAGTTTCCTTAGG -3'
(R):5'- AGGCATTGGAACCACTGTCTG -3'
Sequencing Primer
(F):5'- GTTTGCTCAGGACCCAGATCTG -3'
(R):5'- GGAACCACTGTCTGCATCC -3'
|
Posted On |
2020-06-30 |