Incidental Mutation 'R7726:Pcdhgc3'
| ID | 595526 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Pcdhgc3
|
|---|
| Ensembl Gene |
ENSMUSG00000102918 |
|---|
| Gene Name | protocadherin gamma subfamily C, 3 |
|---|
| Synonyms | PC43, Pcdh2 |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R7726 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 18 |
|---|
| Chromosomal Location | 37806364-37841873 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 37806879 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Valine to Alanine
at position 111
(V111A)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076085
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000208907]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
|---|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044851
|
|---|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
|---|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
|---|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
|---|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076807
AA Change: V111A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
26 |
N/A |
INTRINSIC |
|
CA
|
51 |
133 |
8.56e-3 |
SMART |
|
CA
|
157 |
242 |
1.78e-16 |
SMART |
|
CA
|
266 |
350 |
2.18e-25 |
SMART |
|
CA
|
374 |
455 |
7.09e-25 |
SMART |
|
CA
|
479 |
565 |
1.87e-24 |
SMART |
|
CA
|
593 |
674 |
1.79e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
689 |
774 |
3.9e-14 |
PFAM |
|
Pfam:Cadherin_tail
|
811 |
934 |
8.2e-38 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
|---|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
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: ENSMUST00000192103
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141611
Gene: ENSMUSG00000102918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
31 |
78 |
2.3e-13 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
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: ENSMUST00000194928
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195764
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
|---|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
|---|
| Validation Efficiency |
100% (65/65) |
|---|
| 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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931408C20Rik |
C |
A |
1: 26,684,498 |
A534S |
probably benign |
Het |
| A230050P20Rik |
T |
C |
9: 20,873,165 |
Y182H |
possibly damaging |
Het |
| Adam34 |
T |
G |
8: 43,651,171 |
N479T |
probably damaging |
Het |
| Add3 |
C |
G |
19: 53,239,461 |
L526V |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,246,951 |
T3A |
probably benign |
Het |
| Arap3 |
C |
T |
18: 37,989,467 |
D579N |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,222,598 |
D326Y |
probably damaging |
Het |
| Atp6v1e2 |
G |
A |
17: 86,944,385 |
T195I |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,702,072 |
E904G |
probably damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,662,598 |
D112E |
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,964,245 |
K438T |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 87,980,286 |
E265D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,553,075 |
M1937L |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,411,493 |
S299R |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,302,214 |
*120W |
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,655,190 |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,501,418 |
I469K |
possibly damaging |
Het |
| Crtac1 |
G |
T |
19: 42,302,251 |
S337* |
probably null |
Het |
| Cx3cl1 |
T |
C |
8: 94,780,239 |
S291P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,488,968 |
Q423K |
probably benign |
Het |
| Eif3h |
G |
T |
15: 51,786,823 |
Q322K |
possibly damaging |
Het |
| Ero1lb |
A |
G |
13: 12,605,833 |
*494W |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,373,175 |
V519I |
possibly damaging |
Het |
| Fam184a |
C |
A |
10: 53,633,706 |
E126* |
probably null |
Het |
| Fam208a |
C |
A |
14: 27,447,497 |
N338K |
probably damaging |
Het |
| Fam222b |
A |
G |
11: 78,153,751 |
D46G |
probably damaging |
Het |
| Fbxl6 |
C |
A |
15: 76,535,886 |
R509L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,136,244 |
Y86C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,712,451 |
I2119F |
probably benign |
Het |
| Gm14085 |
A |
G |
2: 122,486,733 |
E25G |
probably damaging |
Het |
| Gpr37 |
G |
A |
6: 25,669,117 |
T576I |
possibly damaging |
Het |
| Hnrnpul2 |
G |
T |
19: 8,831,280 |
R702L |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,757,456 |
N342S |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 106,017,575 |
V339A |
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,978,416 |
N46I |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,939,838 |
S1703R |
possibly damaging |
Het |
| Lyn |
C |
A |
4: 3,756,428 |
Y306* |
probably null |
Het |
| Manba |
C |
T |
3: 135,518,009 |
T219M |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,140,795 |
|
probably null |
Het |
| Med15 |
T |
G |
16: 17,655,174 |
M550L |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,337,282 |
|
probably null |
Het |
| Mettl11b |
A |
G |
1: 163,703,184 |
C229R |
probably benign |
Het |
| Msh4 |
C |
T |
3: 153,866,320 |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 54,965,365 |
D32E |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,733,682 |
D419G |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,122,139 |
P393S |
probably damaging |
Het |
| Olfr1389 |
T |
A |
11: 49,430,900 |
C141* |
probably null |
Het |
| Olfr1415 |
A |
T |
1: 92,491,307 |
F149L |
probably benign |
Het |
| Palm2 |
C |
T |
4: 57,709,876 |
P274S |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,634,003 |
|
probably null |
Het |
| Pcnx2 |
C |
T |
8: 125,850,330 |
V988I |
probably benign |
Het |
| Pom121 |
C |
T |
5: 135,378,148 |
G1178S |
probably damaging |
Het |
| Prss33 |
A |
G |
17: 23,834,229 |
C213R |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,378,367 |
|
probably null |
Het |
| Sirpb1c |
T |
A |
3: 15,848,386 |
I10F |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 43,963,352 |
L16P |
probably damaging |
Het |
| Stk4 |
T |
G |
2: 164,110,226 |
M1R |
probably null |
Het |
| Stub1 |
A |
T |
17: 25,831,132 |
Y253* |
probably null |
Het |
| Tbce |
A |
G |
13: 14,029,290 |
V29A |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,471,758 |
R590G |
probably benign |
Het |
| Tmem173 |
C |
T |
18: 35,735,265 |
A261T |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,458,920 |
P613L |
unknown |
Het |
| Vmn2r3 |
G |
T |
3: 64,275,518 |
C253* |
probably null |
Het |
| Wfdc8 |
C |
A |
2: 164,599,986 |
E215D |
possibly damaging |
Het |
| Zfp874b |
T |
C |
13: 67,473,856 |
D441G |
probably benign |
Het |
| Zscan4d |
G |
T |
7: 11,165,242 |
P36Q |
possibly damaging |
Het |
|
|---|
| Other mutations in Pcdhgc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3861:Pcdhgc3
|
UTSW |
18 |
37808528 |
missense |
probably damaging |
1.00 |
|
R5032:Pcdhgc3
|
UTSW |
18 |
37807585 |
missense |
probably damaging |
1.00 |
|
R5371:Pcdhgc3
|
UTSW |
18 |
37808454 |
missense |
possibly damaging |
0.96 |
|
R5454:Pcdhgc3
|
UTSW |
18 |
37808496 |
missense |
probably damaging |
1.00 |
|
R6065:Pcdhgc3
|
UTSW |
18 |
37807676 |
missense |
possibly damaging |
0.69 |
|
R6114:Pcdhgc3
|
UTSW |
18 |
37807872 |
missense |
probably benign |
0.31 |
|
R6180:Pcdhgc3
|
UTSW |
18 |
37806937 |
missense |
probably damaging |
1.00 |
|
R6996:Pcdhgc3
|
UTSW |
18 |
37806603 |
missense |
possibly damaging |
0.84 |
|
R7316:Pcdhgc3
|
UTSW |
18 |
37808448 |
missense |
probably benign |
0.18 |
|
R7465:Pcdhgc3
|
UTSW |
18 |
37807745 |
missense |
probably benign |
0.09 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ACCATCATTCACTATGAGATCCTGG -3'
(R):5'- AAGAGTTGCTCCCCACATCG -3'
Sequencing Primer
(F):5'- TCATTCACTATGAGATCCTGGAGGAG -3'
(R):5'- ACATCGGGATCGTGCGC -3'
|
|---|
| Posted On | 2019-11-12 |
|---|
