Incidental Mutation 'R4996:Pcdhac1'
| ID |
385300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhac1
|
| Ensembl Gene |
ENSMUSG00000103255 |
| Gene Name |
protocadherin alpha subfamily C, 1 |
| Synonyms |
CNRc1 |
| MMRRC Submission |
042590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4996 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37223189-37320710 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 37225580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 798
(Q798*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000192631]
[ENSMUST00000192295]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000115662]
[ENSMUST00000193777]
[ENSMUST00000192512]
[ENSMUST00000194038]
[ENSMUST00000192503]
[ENSMUST00000194544]
[ENSMUST00000193839]
[ENSMUST00000192447]
[ENSMUST00000195590]
[ENSMUST00000194751]
|
| AlphaFold |
Q91Y10 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007584
AA Change: Q798*
|
| SMART Domains |
Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255
AA Change: Q798*
| 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: 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: 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: 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: ENSMUST00000193856
|
| 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: 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: 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: 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: 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: 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: 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 |
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: 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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.5%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,934 (GRCm39) |
I1086V |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,726,853 (GRCm39) |
S500G |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,603 (GRCm39) |
V394E |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,720,005 (GRCm39) |
F494L |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,492,622 (GRCm39) |
D264E |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,634,073 (GRCm39) |
N426S |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,435,807 (GRCm39) |
F168I |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,822 (GRCm39) |
I209N |
probably damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,166 (GRCm39) |
L229Q |
probably benign |
Het |
| Calml3 |
T |
C |
13: 3,854,142 (GRCm39) |
D21G |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,872,858 (GRCm39) |
N528S |
probably damaging |
Het |
| Ccnl2 |
T |
A |
4: 155,897,981 (GRCm39) |
D141E |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,296,106 (GRCm39) |
I817V |
probably benign |
Het |
| Cgnl1 |
CTTGCCCAGGTT |
CTT |
9: 71,632,108 (GRCm39) |
|
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,757,937 (GRCm39) |
I232N |
probably damaging |
Het |
| Col22a1 |
A |
C |
15: 71,879,010 (GRCm39) |
V49G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,960,452 (GRCm39) |
M3321K |
probably damaging |
Het |
| Cyp2u1 |
T |
A |
3: 131,091,933 (GRCm39) |
M196L |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,975,118 (GRCm39) |
L1566R |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 119,209,839 (GRCm39) |
T305A |
probably benign |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Efhd1 |
G |
T |
1: 87,192,280 (GRCm39) |
G37W |
possibly damaging |
Het |
| Exph5 |
G |
C |
9: 53,286,910 (GRCm39) |
E1330D |
possibly damaging |
Het |
| Fbln2 |
A |
T |
6: 91,242,992 (GRCm39) |
Y913F |
probably benign |
Het |
| Fmnl1 |
G |
A |
11: 103,073,482 (GRCm39) |
S167N |
possibly damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
| Gmpr2 |
T |
C |
14: 55,914,252 (GRCm39) |
I169T |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,614,448 (GRCm39) |
S531P |
probably damaging |
Het |
| Hace1 |
G |
A |
10: 45,526,046 (GRCm39) |
A296T |
probably benign |
Het |
| Ift70a1 |
C |
T |
2: 75,810,266 (GRCm39) |
G606S |
probably benign |
Het |
| Inhbb |
A |
C |
1: 119,348,548 (GRCm39) |
L90R |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,242,665 (GRCm39) |
R18Q |
probably null |
Het |
| Kdm6b |
G |
T |
11: 69,296,557 (GRCm39) |
P570Q |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,651,800 (GRCm39) |
V1803A |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,747,207 (GRCm39) |
L811Q |
probably damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,285,166 (GRCm39) |
L464F |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,696,344 (GRCm39) |
S729P |
probably benign |
Het |
| Naca |
C |
T |
10: 127,878,298 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,393,709 (GRCm39) |
S1010T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,085,172 (GRCm39) |
F136I |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,030,418 (GRCm39) |
F137Y |
probably benign |
Het |
| Or1o3 |
A |
G |
17: 37,573,758 (GRCm39) |
S266P |
probably benign |
Het |
| Or3a1c |
A |
G |
11: 74,046,157 (GRCm39) |
H59R |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,615 (GRCm39) |
I215V |
probably benign |
Het |
| Otog |
C |
A |
7: 45,948,030 (GRCm39) |
H2344N |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,954,934 (GRCm39) |
C517* |
probably null |
Het |
| Pdhx |
T |
C |
2: 102,860,657 (GRCm39) |
D330G |
probably damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Pgr |
C |
A |
9: 8,900,914 (GRCm39) |
P149Q |
probably damaging |
Het |
| Plaat1 |
G |
A |
16: 29,036,456 (GRCm39) |
W31* |
probably null |
Het |
| Ppm1h |
A |
T |
10: 122,777,245 (GRCm39) |
I504F |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,523,833 (GRCm39) |
S556P |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,578,570 (GRCm39) |
Q168* |
probably null |
Het |
| Relb |
A |
T |
7: 19,349,528 (GRCm39) |
L259Q |
probably benign |
Het |
| Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,527,716 (GRCm39) |
D125G |
possibly damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,735 (GRCm39) |
V86A |
probably damaging |
Het |
| Slc15a5 |
G |
A |
6: 138,020,583 (GRCm39) |
T250M |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,365,599 (GRCm39) |
K477* |
probably null |
Het |
| Slx9 |
A |
T |
10: 77,351,367 (GRCm39) |
W14R |
probably null |
Het |
| Smc2 |
T |
A |
4: 52,461,042 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 143,974,070 (GRCm39) |
L226* |
probably null |
Het |
| Sp140l2 |
G |
T |
1: 85,224,815 (GRCm39) |
A240E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,990,724 (GRCm39) |
E1903G |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,861 (GRCm39) |
I2226N |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,283,086 (GRCm39) |
I823N |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,676,112 (GRCm39) |
K673N |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,483,342 (GRCm39) |
Y360C |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,716,967 (GRCm39) |
E357G |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,693 (GRCm39) |
N1093K |
possibly damaging |
Het |
| Vmn1r64 |
T |
A |
7: 5,887,052 (GRCm39) |
T164S |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,166 (GRCm39) |
Q709L |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,129,247 (GRCm39) |
I713L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,205,484 (GRCm39) |
T686A |
probably benign |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8088:Pcdhac1
|
UTSW |
18 |
37,224,807 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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'- AGGACGATGGCTTCTAGTCC -3'
(R):5'- CTAATGCAAGTTGCCAGAATTCTTG -3'
Sequencing Primer
(F):5'- CTAGTCCTTGGGTGACATCAGC -3'
(R):5'- GCCAGAATTCTTGACATAGTGTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation