Incidental Mutation 'R6180:Pcdhgc3'
| ID |
488043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc3
|
| Ensembl Gene |
ENSMUSG00000102918 |
| Gene Name |
protocadherin gamma subfamily C, 3 |
| Synonyms |
Pcdh2, PC43 |
| MMRRC Submission |
044322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6180 (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 37939990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 130
(D130E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000193414]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000194190]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000194544]
[ENSMUST00000115661]
[ENSMUST00000194418]
[ENSMUST00000192103]
[ENSMUST00000193869]
[ENSMUST00000208907]
[ENSMUST00000195764]
[ENSMUST00000194928]
[ENSMUST00000195363]
[ENSMUST00000195823]
[ENSMUST00000195112]
|
| 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: D130E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: D130E
| 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 |
noncoding transcript
Transcript: ENSMUST00000192003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194447
|
| 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: 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: ENSMUST00000208907
|
| 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,610 (GRCm39) |
N667S |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,908,508 (GRCm39) |
C1085* |
probably null |
Het |
| BC035044 |
A |
T |
6: 128,861,997 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,164,084 (GRCm39) |
M1142V |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,941,692 (GRCm39) |
D693G |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,663,917 (GRCm39) |
H99L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,925,945 (GRCm39) |
K218R |
possibly damaging |
Het |
| Ccno |
T |
C |
13: 113,126,379 (GRCm39) |
S283P |
probably damaging |
Het |
| Ccser2 |
A |
T |
14: 36,662,276 (GRCm39) |
S303T |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,674,680 (GRCm39) |
N129I |
probably damaging |
Het |
| Cd63 |
G |
A |
10: 128,747,933 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,776,694 (GRCm39) |
M797T |
probably damaging |
Het |
| Dennd2b |
A |
C |
7: 109,156,095 (GRCm39) |
D218E |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,888,794 (GRCm39) |
V811I |
possibly damaging |
Het |
| Dpysl4 |
A |
T |
7: 138,670,250 (GRCm39) |
T123S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,345 (GRCm39) |
E428G |
possibly damaging |
Het |
| Fam124b |
T |
A |
1: 80,177,902 (GRCm39) |
T366S |
possibly damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,215,747 (GRCm39) |
D167G |
probably damaging |
Het |
| Flrt2 |
C |
T |
12: 95,746,012 (GRCm39) |
Q117* |
probably null |
Het |
| Ftsj3 |
A |
T |
11: 106,144,166 (GRCm39) |
|
probably null |
Het |
| Ggn |
A |
G |
7: 28,872,474 (GRCm39) |
Y618C |
probably damaging |
Het |
| Glis1 |
T |
A |
4: 107,484,710 (GRCm39) |
S402T |
probably benign |
Het |
| Gm4781 |
T |
A |
10: 100,232,349 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7168 |
T |
A |
17: 14,168,858 (GRCm39) |
I75K |
probably damaging |
Het |
| Gm7298 |
C |
T |
6: 121,737,782 (GRCm39) |
H348Y |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,618 (GRCm39) |
R499L |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,245,389 (GRCm39) |
T549M |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,125,178 (GRCm39) |
V323E |
probably damaging |
Het |
| Hoxb3 |
G |
A |
11: 96,236,929 (GRCm39) |
V336I |
probably benign |
Het |
| Il12b |
G |
A |
11: 44,303,453 (GRCm39) |
A327T |
probably benign |
Het |
| Inpp4a |
C |
A |
1: 37,419,183 (GRCm39) |
P588T |
probably benign |
Het |
| Kctd12 |
C |
A |
14: 103,219,027 (GRCm39) |
D284Y |
probably damaging |
Het |
| Kif28 |
C |
A |
1: 179,525,337 (GRCm39) |
|
probably null |
Het |
| Krt1c |
T |
C |
15: 101,723,479 (GRCm39) |
N332S |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,857,495 (GRCm39) |
T3118I |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,253,404 (GRCm39) |
L25P |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,091,503 (GRCm39) |
M269L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,112,160 (GRCm39) |
E960V |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,596,791 (GRCm39) |
D60E |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,333,868 (GRCm39) |
N1458Y |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,224,677 (GRCm39) |
S16T |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,569,362 (GRCm39) |
A875T |
possibly damaging |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,574 (GRCm39) |
I118N |
probably damaging |
Het |
| Mrps7 |
A |
G |
11: 115,495,707 (GRCm39) |
T82A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,056,565 (GRCm39) |
E1170G |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,107,915 (GRCm39) |
H647R |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,454,215 (GRCm39) |
Y2710C |
probably damaging |
Het |
| Ndc1 |
A |
T |
4: 107,268,395 (GRCm39) |
I644L |
possibly damaging |
Het |
| Or4c108 |
T |
G |
2: 88,804,226 (GRCm39) |
N3T |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,338,008 (GRCm39) |
Y120N |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,483,784 (GRCm39) |
M352T |
possibly damaging |
Het |
| Pals1 |
C |
T |
12: 78,864,084 (GRCm39) |
H216Y |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,417,163 (GRCm39) |
|
probably null |
Het |
| Pdpn |
C |
T |
4: 143,025,792 (GRCm39) |
G12R |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,771,620 (GRCm39) |
D200E |
probably benign |
Het |
| Ppa1 |
A |
T |
10: 61,503,431 (GRCm39) |
D236V |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,822,739 (GRCm39) |
S273T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,165,609 (GRCm39) |
E297G |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,394,923 (GRCm39) |
N750S |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,496,365 (GRCm39) |
N449D |
probably benign |
Het |
| Samd8 |
T |
A |
14: 21,825,093 (GRCm39) |
H79Q |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,933 (GRCm39) |
I1561V |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,938 (GRCm39) |
L105P |
probably benign |
Het |
| Slc7a12 |
A |
T |
3: 14,546,200 (GRCm39) |
|
probably null |
Het |
| Slco1a4 |
A |
G |
6: 141,763,546 (GRCm39) |
I390T |
possibly damaging |
Het |
| Snta1 |
T |
C |
2: 154,219,102 (GRCm39) |
N411S |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,277,279 (GRCm39) |
T323A |
probably benign |
Het |
| Ssh2 |
G |
T |
11: 77,344,291 (GRCm39) |
V759L |
probably benign |
Het |
| Swap70 |
G |
T |
7: 109,869,188 (GRCm39) |
R327L |
probably damaging |
Het |
| Tbc1d4 |
C |
A |
14: 101,696,206 (GRCm39) |
C914F |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,812,132 (GRCm39) |
D144G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem94 |
A |
T |
11: 115,681,857 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
A |
16: 44,041,468 (GRCm39) |
F1983I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,068 (GRCm39) |
C763* |
probably null |
Het |
| Vmn1r115 |
A |
C |
7: 20,578,640 (GRCm39) |
L91V |
probably damaging |
Het |
| Vmn1r201 |
A |
T |
13: 22,659,499 (GRCm39) |
I238F |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,476 (GRCm39) |
S106R |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,012 (GRCm39) |
V95A |
probably damaging |
Het |
| Vrk3 |
A |
T |
7: 44,419,035 (GRCm39) |
N371I |
possibly damaging |
Het |
| Wnt8b |
C |
A |
19: 44,500,082 (GRCm39) |
A223E |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,335,921 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
T |
C |
14: 70,920,243 (GRCm39) |
N642S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,953 (GRCm39) |
R520H |
possibly damaging |
Het |
| Zfp367 |
T |
C |
13: 64,283,204 (GRCm39) |
E316G |
probably damaging |
Het |
| Zfp488 |
T |
A |
14: 33,692,751 (GRCm39) |
R137S |
possibly damaging |
Het |
| Zfp532 |
G |
T |
18: 65,789,542 (GRCm39) |
V994L |
probably benign |
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 |
|
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 |
|
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'- TTGGATCTCGGCAGTCTGTC -3'
(R):5'- ACCAGCTCCGCATATTTCG -3'
Sequencing Primer
(F):5'- TGGTGTCCGGAGCTAGC -3'
(R):5'- CGTGCCGTCTTCTCGAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation