Incidental Mutation 'R1765:Pcdhgc5'
ID |
194331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgc5
|
Ensembl Gene |
ENSMUSG00000102543 |
Gene Name |
protocadherin gamma subfamily C, 5 |
Synonyms |
|
MMRRC Submission |
039797-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.815)
|
Stock # |
R1765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37952599-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37954913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 729
(H729R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000192535]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000192511]
[ENSMUST00000192103]
[ENSMUST00000076807]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000208907]
[ENSMUST00000194544]
[ENSMUST00000193404]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000194928]
[ENSMUST00000193890]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000195239]
[ENSMUST00000193941]
|
AlphaFold |
Q91XW9 |
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: ENSMUST00000055935
AA Change: H729R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060949 Gene: ENSMUSG00000102543 AA Change: H729R
Domain | Start | End | E-Value | Type |
CA
|
54 |
131 |
3.02e-2 |
SMART |
CA
|
155 |
240 |
6.84e-18 |
SMART |
CA
|
264 |
348 |
7.91e-23 |
SMART |
CA
|
372 |
452 |
4.4e-21 |
SMART |
CA
|
476 |
562 |
3.31e-25 |
SMART |
CA
|
592 |
674 |
5.69e-15 |
SMART |
Pfam:Cadherin_C_2
|
689 |
791 |
1.1e-18 |
PFAM |
low complexity region
|
808 |
819 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
821 |
944 |
8.3e-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: ENSMUST00000066140
|
SMART Domains |
Protein: ENSMUSP00000068846 Gene: ENSMUSG00000023036
Domain | Start | End | E-Value | Type |
CA
|
52 |
134 |
4.39e-1 |
SMART |
CA
|
158 |
243 |
1.25e-20 |
SMART |
CA
|
267 |
351 |
5.09e-26 |
SMART |
CA
|
375 |
456 |
1.26e-21 |
SMART |
CA
|
480 |
566 |
6.56e-29 |
SMART |
CA
|
596 |
674 |
6.95e-10 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
922 |
941 |
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 |
noncoding transcript
Transcript: ENSMUST00000192984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192861
|
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: 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: 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: 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: 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: ENSMUST00000076807
|
SMART Domains |
Protein: ENSMUSP00000076085 Gene: ENSMUSG00000102918
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: 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: 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: ENSMUST00000194068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
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: 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: 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: 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: 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: 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: 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: ENSMUST00000193890
|
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: 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: ENSMUST00000195239
|
SMART Domains |
Protein: ENSMUSP00000141244 Gene: ENSMUSG00000023036
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193941
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
99% (90/91) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
G |
T |
15: 59,887,194 (GRCm39) |
C415* |
probably null |
Het |
Adamtsl2 |
A |
C |
2: 26,992,842 (GRCm39) |
I652L |
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,248,872 (GRCm39) |
I720T |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,261,284 (GRCm39) |
C604* |
probably null |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
B3galt2 |
C |
A |
1: 143,522,207 (GRCm39) |
N114K |
probably benign |
Het |
Bud23 |
A |
T |
5: 135,084,897 (GRCm39) |
M59K |
probably benign |
Het |
C3 |
C |
T |
17: 57,531,401 (GRCm39) |
|
probably null |
Het |
C9orf72 |
A |
C |
4: 35,197,098 (GRCm39) |
H322Q |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,871,873 (GRCm39) |
D903V |
probably damaging |
Het |
Ccdc9b |
G |
A |
2: 118,591,128 (GRCm39) |
A135V |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdan1 |
A |
C |
2: 120,551,230 (GRCm39) |
L1097V |
probably damaging |
Het |
Cdc26 |
T |
A |
4: 62,313,155 (GRCm39) |
N62I |
probably benign |
Het |
Cdc27 |
G |
T |
11: 104,425,607 (GRCm39) |
Q70K |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,235,178 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
C |
9: 15,239,200 (GRCm39) |
S1858G |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,433,261 (GRCm39) |
S247P |
probably damaging |
Het |
Cyp2w1 |
C |
T |
5: 139,339,623 (GRCm39) |
T71I |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,741,793 (GRCm39) |
F1336S |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,074,506 (GRCm39) |
Q104* |
probably null |
Het |
Dglucy |
T |
A |
12: 100,816,361 (GRCm39) |
|
probably null |
Het |
Dnajc9 |
A |
G |
14: 20,438,158 (GRCm39) |
V148A |
possibly damaging |
Het |
Dnmbp |
T |
A |
19: 43,890,579 (GRCm39) |
D396V |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,583,540 (GRCm39) |
I221F |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,486,579 (GRCm39) |
N1032S |
probably benign |
Het |
Dsg4 |
A |
C |
18: 20,589,888 (GRCm39) |
Y346S |
probably benign |
Het |
Dync1i2 |
A |
G |
2: 71,079,759 (GRCm39) |
H417R |
probably benign |
Het |
Dysf |
G |
A |
6: 84,167,884 (GRCm39) |
|
probably null |
Het |
Elovl1 |
A |
G |
4: 118,287,707 (GRCm39) |
M1V |
probably null |
Het |
Eva1c |
A |
G |
16: 90,701,135 (GRCm39) |
S257G |
probably benign |
Het |
Eya2 |
A |
T |
2: 165,566,723 (GRCm39) |
D258V |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,593,841 (GRCm39) |
T113A |
probably damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Fstl5 |
G |
T |
3: 76,500,783 (GRCm39) |
R404L |
possibly damaging |
Het |
Glud1 |
T |
C |
14: 34,047,541 (GRCm39) |
|
probably benign |
Het |
Gm10770 |
A |
C |
2: 150,021,258 (GRCm39) |
H86Q |
probably damaging |
Het |
Gzme |
C |
T |
14: 56,355,871 (GRCm39) |
G147D |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,865,645 (GRCm39) |
V746A |
probably damaging |
Het |
Hmga1 |
A |
G |
17: 27,778,592 (GRCm39) |
E17G |
probably damaging |
Het |
Kdelr2 |
A |
T |
5: 143,406,567 (GRCm39) |
K206* |
probably null |
Het |
Kng2 |
A |
G |
16: 22,806,993 (GRCm39) |
|
probably null |
Het |
Lrrc41 |
G |
A |
4: 115,946,248 (GRCm39) |
R321H |
possibly damaging |
Het |
Mapkapk2 |
A |
T |
1: 130,986,498 (GRCm39) |
M1K |
probably null |
Het |
Me2 |
A |
G |
18: 73,924,929 (GRCm39) |
F263L |
probably damaging |
Het |
Mkks |
A |
G |
2: 136,722,287 (GRCm39) |
L290P |
probably damaging |
Het |
Mmp12 |
T |
A |
9: 7,354,772 (GRCm39) |
I255N |
probably damaging |
Het |
Mogs |
A |
G |
6: 83,093,784 (GRCm39) |
D251G |
probably benign |
Het |
Morf4l1 |
T |
A |
9: 89,984,401 (GRCm39) |
Y65F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,676 (GRCm39) |
D5169G |
probably damaging |
Het |
Nin |
A |
G |
12: 70,089,665 (GRCm39) |
L1250P |
probably damaging |
Het |
Nomo1 |
G |
T |
7: 45,715,717 (GRCm39) |
G721V |
possibly damaging |
Het |
Notch2 |
T |
G |
3: 98,029,242 (GRCm39) |
C1002G |
probably damaging |
Het |
Npat |
T |
C |
9: 53,481,522 (GRCm39) |
Y1077H |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,170 (GRCm39) |
N198K |
probably damaging |
Het |
Or4g17 |
G |
A |
2: 111,209,491 (GRCm39) |
V49I |
probably benign |
Het |
Or4p21 |
A |
T |
2: 88,276,367 (GRCm39) |
F305Y |
probably damaging |
Het |
Or5h25 |
A |
G |
16: 58,930,118 (GRCm39) |
L285P |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,548 (GRCm39) |
I143T |
probably benign |
Het |
Otop2 |
A |
T |
11: 115,215,504 (GRCm39) |
I142F |
probably benign |
Het |
Pacsin3 |
A |
G |
2: 91,093,460 (GRCm39) |
E279G |
possibly damaging |
Het |
Pafah2 |
A |
G |
4: 134,140,758 (GRCm39) |
T243A |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,900,874 (GRCm39) |
D756G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,962 (GRCm39) |
E2707G |
probably damaging |
Het |
Rit2 |
C |
T |
18: 31,449,951 (GRCm39) |
G16S |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,738,922 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
T |
4: 113,434,858 (GRCm39) |
T1037K |
unknown |
Het |
Slc28a2 |
T |
A |
2: 122,290,876 (GRCm39) |
|
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,130 (GRCm39) |
A259V |
probably damaging |
Het |
Slc6a17 |
T |
A |
3: 107,380,895 (GRCm39) |
I537F |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,700,084 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,707,196 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
C |
7: 117,738,938 (GRCm39) |
I3489V |
probably benign |
Het |
Sytl3 |
T |
C |
17: 6,967,082 (GRCm39) |
L142P |
probably damaging |
Het |
Tektl1 |
A |
T |
10: 78,584,502 (GRCm39) |
M340K |
probably benign |
Het |
Tfr2 |
C |
T |
5: 137,581,707 (GRCm39) |
T598I |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,102,145 (GRCm39) |
Q770R |
probably benign |
Het |
Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,329,597 (GRCm39) |
M177K |
possibly damaging |
Het |
Trmt11 |
T |
C |
10: 30,435,184 (GRCm39) |
D325G |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,862 (GRCm39) |
T582I |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,969,919 (GRCm39) |
E682K |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,384,454 (GRCm39) |
V688A |
possibly damaging |
Het |
Uts2r |
A |
G |
11: 121,052,095 (GRCm39) |
T320A |
possibly damaging |
Het |
Vmn1r34 |
A |
T |
6: 66,614,480 (GRCm39) |
M86K |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,456,880 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,368,132 (GRCm39) |
C607S |
probably benign |
Het |
|
Other mutations in Pcdhgc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01685:Pcdhgc5
|
APN |
18 |
37,954,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Pcdhgc5
|
APN |
18 |
37,955,003 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03008:Pcdhgc5
|
APN |
18 |
37,954,887 (GRCm39) |
missense |
probably benign |
|
IGL03123:Pcdhgc5
|
APN |
18 |
37,952,966 (GRCm39) |
missense |
probably benign |
|
IGL03235:Pcdhgc5
|
APN |
18 |
37,953,151 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4495001:Pcdhgc5
|
UTSW |
18 |
37,954,030 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0265:Pcdhgc5
|
UTSW |
18 |
37,954,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Pcdhgc5
|
UTSW |
18 |
37,954,931 (GRCm39) |
missense |
probably benign |
0.04 |
R1867:Pcdhgc5
|
UTSW |
18 |
37,954,471 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1939:Pcdhgc5
|
UTSW |
18 |
37,955,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Pcdhgc5
|
UTSW |
18 |
37,953,166 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3104:Pcdhgc5
|
UTSW |
18 |
37,954,727 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3606:Pcdhgc5
|
UTSW |
18 |
37,953,560 (GRCm39) |
missense |
probably benign |
0.00 |
R4765:Pcdhgc5
|
UTSW |
18 |
37,955,122 (GRCm39) |
missense |
probably benign |
0.21 |
R5789:Pcdhgc5
|
UTSW |
18 |
37,954,559 (GRCm39) |
missense |
probably damaging |
0.99 |
R5864:Pcdhgc5
|
UTSW |
18 |
37,954,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5995:Pcdhgc5
|
UTSW |
18 |
37,954,113 (GRCm39) |
nonsense |
probably null |
|
R6252:Pcdhgc5
|
UTSW |
18 |
37,954,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R6285:Pcdhgc5
|
UTSW |
18 |
37,953,674 (GRCm39) |
missense |
probably benign |
0.03 |
R6455:Pcdhgc5
|
UTSW |
18 |
37,954,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6569:Pcdhgc5
|
UTSW |
18 |
37,953,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6953:Pcdhgc5
|
UTSW |
18 |
37,953,514 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8025:Pcdhgc5
|
UTSW |
18 |
37,953,992 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8159:Pcdhgc5
|
UTSW |
18 |
37,954,175 (GRCm39) |
missense |
probably benign |
0.15 |
R8161:Pcdhgc5
|
UTSW |
18 |
37,954,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R8498:Pcdhgc5
|
UTSW |
18 |
37,953,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R8507:Pcdhgc5
|
UTSW |
18 |
37,952,945 (GRCm39) |
missense |
probably benign |
0.26 |
R9138:Pcdhgc5
|
UTSW |
18 |
37,953,892 (GRCm39) |
missense |
probably benign |
0.05 |
X0022:Pcdhgc5
|
UTSW |
18 |
37,954,207 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGACTGTTCCTTGTATCTGCACAC -3'
(R):5'- AAGCAGGTCCTGTAGCAATGGCTC -3'
Sequencing Primer
(F):5'- ATTGGAGGATGACTCTGATACCC -3'
(R):5'- TAGCAATGGCTCTGAGAGTCC -3'
|
Posted On |
2014-05-23 |