Incidental Mutation 'R8283:Pcdhgc3'
| ID |
638346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc3
|
| Ensembl Gene |
ENSMUSG00000102918 |
| Gene Name |
protocadherin gamma subfamily C, 3 |
| Synonyms |
Pcdh2, PC43 |
| MMRRC Submission |
067706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37939463-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37940694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 365
(A365D)
|
| 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]
|
| AlphaFold |
Q91XX1 |
| 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 |
probably damaging
Transcript: ENSMUST00000076807
AA Change: A365D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: A365D
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,856,086 (GRCm39) |
P65S |
probably damaging |
Het |
| Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
| Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,800 (GRCm39) |
L50Q |
noncoding transcript |
Het |
| Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
| Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
| Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
| Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,671,952 (GRCm39) |
T17A |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
| Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
| Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
| Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,386,848 (GRCm39) |
D186V |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,355,675 (GRCm39) |
N699T |
probably benign |
Het |
| Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
| Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
| Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
| Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
| Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
| Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
| Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
| Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
| Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
| Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
possibly damaging |
Het |
|
| Other mutations in Pcdhgc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3861:Pcdhgc3
|
UTSW |
18 |
37,941,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Pcdhgc3
|
UTSW |
18 |
37,940,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Pcdhgc3
|
UTSW |
18 |
37,941,507 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5454:Pcdhgc3
|
UTSW |
18 |
37,941,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6065:Pcdhgc3
|
UTSW |
18 |
37,940,729 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6114:Pcdhgc3
|
UTSW |
18 |
37,940,925 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6180:Pcdhgc3
|
UTSW |
18 |
37,939,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Pcdhgc3
|
UTSW |
18 |
37,939,656 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7316:Pcdhgc3
|
UTSW |
18 |
37,941,501 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7465:Pcdhgc3
|
UTSW |
18 |
37,940,798 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7726:Pcdhgc3
|
UTSW |
18 |
37,939,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8134:Pcdhgc3
|
UTSW |
18 |
37,939,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8307:Pcdhgc3
|
UTSW |
18 |
37,940,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Pcdhgc3
|
UTSW |
18 |
37,940,347 (GRCm39) |
nonsense |
probably null |
|
|
R9045:Pcdhgc3
|
UTSW |
18 |
37,940,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9089:Pcdhgc3
|
UTSW |
18 |
37,941,264 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9375:Pcdhgc3
|
UTSW |
18 |
37,939,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCTTTAGACCTCGTAACC -3'
(R):5'- AGTCTCGAGCTGTGATGCTG -3'
Sequencing Primer
(F):5'- TAACCGGGGTGCTGACAATC -3'
(R):5'- GAGATTGTATTCTGGCATGGTCTCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation