Incidental Mutation 'R7316:Pcdhgc3'
| ID |
568017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc3
|
| Ensembl Gene |
ENSMUSG00000102918 |
| Gene Name |
protocadherin gamma subfamily C, 3 |
| Synonyms |
Pcdh2, PC43 |
| MMRRC Submission |
045413-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37939463-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37941501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 634
(I634T)
|
| 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 benign
Transcript: ENSMUST00000076807
AA Change: I634T
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: I634T
| 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: 98.9%
|
| Validation Efficiency |
99% (93/94) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,969,020 (GRCm39) |
M214I |
probably benign |
Het |
| Aadat |
G |
T |
8: 60,979,668 (GRCm39) |
G177C |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,498 (GRCm39) |
I708V |
probably benign |
Het |
| Aip |
T |
C |
19: 4,164,793 (GRCm39) |
N264S |
probably benign |
Het |
| Alox8 |
A |
T |
11: 69,077,064 (GRCm39) |
D505E |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,553,693 (GRCm39) |
I518N |
probably damaging |
Het |
| Arf3 |
G |
A |
15: 98,638,874 (GRCm39) |
Q128* |
probably null |
Het |
| Asph |
A |
G |
4: 9,537,746 (GRCm39) |
V344A |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,911,489 (GRCm39) |
R1500S |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,963,935 (GRCm39) |
T1753I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,740 (GRCm39) |
C457* |
probably null |
Het |
| Brpf3 |
T |
A |
17: 29,033,660 (GRCm39) |
I568N |
probably damaging |
Het |
| Btnl4 |
G |
C |
17: 34,688,031 (GRCm39) |
N582K |
probably benign |
Het |
| Camsap3 |
C |
A |
8: 3,654,648 (GRCm39) |
P773T |
possibly damaging |
Het |
| Capsl |
A |
T |
15: 9,461,888 (GRCm39) |
I95L |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
| Cdan1 |
A |
T |
2: 120,558,813 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
T |
11: 69,236,394 (GRCm39) |
L1939Q |
probably damaging |
Het |
| Cngb3 |
A |
T |
4: 19,425,599 (GRCm39) |
Y469F |
probably benign |
Het |
| Cp |
T |
C |
3: 20,026,916 (GRCm39) |
L448P |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,475,687 (GRCm39) |
V418A |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,701 (GRCm39) |
S147T |
probably benign |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dpysl2 |
A |
T |
14: 67,100,044 (GRCm39) |
M64K |
possibly damaging |
Het |
| Dus3l |
A |
G |
17: 57,072,551 (GRCm39) |
H38R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,958,298 (GRCm39) |
M616L |
probably benign |
Het |
| Epb41l4b |
T |
A |
4: 57,019,867 (GRCm39) |
T708S |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,176,893 (GRCm39) |
I1534N |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,457,197 (GRCm39) |
T1649A |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,491,215 (GRCm39) |
V421A |
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,820,035 (GRCm39) |
Y5256S |
possibly damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,681 (GRCm39) |
L804F |
probably damaging |
Het |
| Garin1a |
A |
G |
6: 29,286,101 (GRCm39) |
M187V |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,291,470 (GRCm39) |
V838A |
probably benign |
Het |
| Gnptab |
A |
T |
10: 88,236,572 (GRCm39) |
N59I |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,624,473 (GRCm39) |
T347A |
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,251 (GRCm39) |
N438D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,608,697 (GRCm39) |
L1495S |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,201 (GRCm39) |
L294Q |
probably damaging |
Het |
| Islr2 |
T |
C |
9: 58,105,250 (GRCm39) |
E714G |
probably damaging |
Het |
| Larp4 |
A |
T |
15: 99,898,898 (GRCm39) |
M430L |
probably benign |
Het |
| Lpcat2b |
A |
G |
5: 107,580,979 (GRCm39) |
I103V |
not run |
Het |
| Lrguk |
C |
T |
6: 34,080,191 (GRCm39) |
S1142F |
unknown |
Het |
| Lrit2 |
G |
T |
14: 36,790,815 (GRCm39) |
V165F |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,232,432 (GRCm39) |
I1182F |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,287,245 (GRCm39) |
D20N |
probably damaging |
Het |
| Mief1 |
A |
G |
15: 80,133,598 (GRCm39) |
I218M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,567,038 (GRCm39) |
T453A |
probably benign |
Het |
| Ms4a18 |
T |
A |
19: 10,979,360 (GRCm39) |
S219C |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,176,920 (GRCm39) |
T622S |
probably benign |
Het |
| Neb |
A |
T |
2: 52,161,450 (GRCm39) |
M2114K |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,525,212 (GRCm39) |
L122* |
probably null |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,583 (GRCm39) |
N88S |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,131,444 (GRCm39) |
C202S |
probably damaging |
Het |
| Ntsr1 |
A |
C |
2: 180,142,545 (GRCm39) |
D112A |
probably damaging |
Het |
| Or14j3 |
A |
G |
17: 37,901,026 (GRCm39) |
S73P |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,740,107 (GRCm39) |
H246Q |
probably damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,727 (GRCm39) |
I288F |
probably benign |
Het |
| Osbp2 |
C |
A |
11: 3,676,431 (GRCm39) |
R73L |
probably damaging |
Het |
| Pbp2 |
T |
A |
6: 135,286,830 (GRCm39) |
E172D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,042,323 (GRCm39) |
S38P |
probably benign |
Het |
| Phyh |
A |
T |
2: 4,940,855 (GRCm39) |
K252* |
probably null |
Het |
| Plcb3 |
C |
T |
19: 6,943,753 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
C |
18: 61,440,909 (GRCm39) |
S670G |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 137,992,509 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Pwwp2b |
A |
C |
7: 138,836,140 (GRCm39) |
E527A |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,490,736 (GRCm39) |
D409G |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,929 (GRCm39) |
N148K |
possibly damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,136 (GRCm39) |
L394P |
probably damaging |
Het |
| Rps24 |
T |
C |
14: 24,540,757 (GRCm39) |
|
probably benign |
Het |
| Slc35e4 |
T |
C |
11: 3,862,584 (GRCm39) |
K202E |
probably damaging |
Het |
| Spata7 |
C |
T |
12: 98,624,871 (GRCm39) |
R258W |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,204,365 (GRCm39) |
S1421T |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,068,763 (GRCm39) |
I3008F |
possibly damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,492,620 (GRCm39) |
|
probably null |
Het |
| Thsd4 |
T |
A |
9: 59,894,642 (GRCm39) |
H772L |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,036,529 (GRCm39) |
I769V |
probably benign |
Het |
| Tm4sf19 |
T |
A |
16: 32,226,466 (GRCm39) |
S127T |
possibly damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,730,813 (GRCm39) |
R780S |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,009,591 (GRCm39) |
V475A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,692,509 (GRCm39) |
V471A |
|
Het |
| Ttn |
A |
T |
2: 76,597,257 (GRCm39) |
N19885K |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,629,378 (GRCm39) |
T478S |
possibly damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,276 (GRCm39) |
K185E |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,712 (GRCm39) |
Y342F |
|
Het |
| Wdr18 |
C |
A |
10: 79,801,059 (GRCm39) |
D157E |
probably benign |
Het |
| Xrra1 |
A |
T |
7: 99,525,423 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
G |
C |
7: 16,169,260 (GRCm39) |
G1198A |
unknown |
Het |
| Zfp568 |
A |
T |
7: 29,721,681 (GRCm39) |
I209F |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,158,523 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,863 (GRCm39) |
Y621N |
possibly damaging |
Het |
| Zyg11b |
A |
G |
4: 108,107,699 (GRCm39) |
I493T |
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 |
|
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 |
|
R8283:Pcdhgc3
|
UTSW |
18 |
37,940,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TACTGACCGCAATGACAACG -3'
(R):5'- TGACTGCGAATCCCACAGAG -3'
Sequencing Primer
(F):5'- CCAGAGTTCGGTGGAGATGC -3'
(R):5'- TCCCACAGAGACCAAGATTAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation