Incidental Mutation 'R2136:Pcdhgc5'
| ID | 235852 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Pcdhgc5
|
|---|
| Ensembl Gene |
ENSMUSG00000102543 |
|---|
| Gene Name | protocadherin gamma subfamily C, 5 |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
040139-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.762)
|
|---|
| Stock # | R2136 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 18 |
|---|
| Chromosomal Location | 37819513-37841873 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to T
at 37820113 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Alanine to Serine
at position 147
(A147S)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060949
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000193890]
[ENSMUST00000193941]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195239]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000208907]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
|---|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044851
|
|---|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055935
AA Change: A147S
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: A147S
| 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 |
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
|
|---|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000192109
|
|---|
| 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 |
noncoding transcript
Transcript: ENSMUST00000192861
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192875
|
|---|
| 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 |
noncoding transcript
Transcript: ENSMUST00000192984
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
|---|
| 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: ENSMUST00000193890
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193941
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194068
|
|---|
| 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 |
noncoding transcript
Transcript: ENSMUST00000194980
|
|---|
| 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: 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: 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
|---|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210010C04Rik |
A |
G |
6: 41,035,462 |
F6S |
probably benign |
Het |
| 2810474O19Rik |
T |
A |
6: 149,328,822 |
I1122K |
probably benign |
Het |
| A930003A15Rik |
T |
G |
16: 19,883,780 |
|
noncoding transcript |
Het |
| Abca5 |
T |
C |
11: 110,319,832 |
T174A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 104,966,814 |
S279L |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,896,912 |
L85P |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,512,254 |
K290R |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,647,621 |
T1909A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,110,959 |
D832G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,718,488 |
L702Q |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,113,231 |
V1774A |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,853,248 |
E48G |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,568,044 |
|
probably null |
Het |
| Cfap65 |
C |
CA |
1: 74,917,273 |
|
probably null |
Het |
| Cln3 |
A |
C |
7: 126,582,799 |
S30R |
probably benign |
Het |
| Cluap1 |
C |
T |
16: 3,933,772 |
R332W |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,337,425 |
V85E |
probably benign |
Het |
| Crocc |
G |
A |
4: 141,032,954 |
R789W |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,415,054 |
I212V |
probably benign |
Het |
| Cyp2t4 |
C |
A |
7: 27,158,160 |
F391L |
probably benign |
Het |
| Dhx35 |
G |
T |
2: 158,831,861 |
R404L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 183,088,378 |
L826S |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 |
E2061D |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,640,447 |
Y1393N |
unknown |
Het |
| Fap |
C |
T |
2: 62,524,207 |
G446D |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,377,051 |
I392T |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,022,334 |
|
probably null |
Het |
| Glipr1l1 |
T |
C |
10: 112,060,476 |
V56A |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,672,658 |
V7A |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,633,659 |
A3646V |
probably damaging |
Het |
| Ipo9 |
A |
T |
1: 135,394,285 |
I569N |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,290,042 |
P151Q |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,307,724 |
D491G |
possibly damaging |
Het |
| Kctd7 |
T |
C |
5: 130,152,366 |
L210P |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,181,857 |
D625E |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,043,519 |
V201A |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,919,573 |
V135A |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 112,271,515 |
D70E |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,270,189 |
Y434H |
probably damaging |
Het |
| Myh10 |
C |
A |
11: 68,804,714 |
Q1556K |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,454,436 |
T1400I |
probably null |
Het |
| Olfr1173 |
T |
C |
2: 88,274,240 |
K270E |
probably damaging |
Het |
| Olfr1178 |
T |
A |
2: 88,391,319 |
I24N |
probably benign |
Het |
| Olfr1289 |
T |
C |
2: 111,483,616 |
V62A |
probably damaging |
Het |
| Olfr13 |
A |
G |
6: 43,174,501 |
K172E |
probably benign |
Het |
| Olfr142 |
A |
C |
2: 90,252,253 |
V245G |
probably damaging |
Het |
| Olfr339 |
A |
G |
2: 36,421,938 |
D180G |
probably damaging |
Het |
| Olfr513 |
G |
A |
7: 108,755,223 |
M122I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,852,462 |
Q67L |
probably damaging |
Het |
| Pan2 |
T |
G |
10: 128,313,637 |
V522G |
possibly damaging |
Het |
| Pard3 |
T |
G |
8: 127,376,885 |
|
probably null |
Het |
| Pcsk9 |
T |
C |
4: 106,446,770 |
I506V |
probably benign |
Het |
| Polr3d |
GCCCCC |
GCCCC |
14: 70,443,047 |
|
probably null |
Het |
| Prdm4 |
G |
A |
10: 85,893,351 |
R731* |
probably null |
Het |
| Prdx6b |
T |
A |
2: 80,293,163 |
D105E |
probably damaging |
Het |
| Rab42 |
A |
G |
4: 132,302,479 |
L144P |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 65,864,666 |
K104M |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,892,599 |
V131A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,387,534 |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 80,062,693 |
I645N |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,206,367 |
K624R |
probably benign |
Het |
| Sgk2 |
C |
A |
2: 162,999,179 |
|
probably null |
Het |
| Sirt4 |
A |
G |
5: 115,479,701 |
S299P |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,304,225 |
A1521V |
probably benign |
Het |
| Socs7 |
T |
G |
11: 97,373,107 |
V275G |
possibly damaging |
Het |
| Spink11 |
G |
A |
18: 44,190,487 |
P102S |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,671,404 |
N534D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,737,346 |
Y214C |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,673,520 |
M875K |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,622,672 |
L41Q |
possibly damaging |
Het |
| Ttc37 |
T |
C |
13: 76,173,354 |
S1322P |
possibly damaging |
Het |
| Vasn |
T |
A |
16: 4,649,795 |
C535* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,689,737 |
I2563F |
probably damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,926,873 |
Q505H |
probably damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,943,573 |
Q475H |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,454,520 |
Y231C |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,266 |
V931A |
probably benign |
Het |
|
|---|
| Other mutations in Pcdhgc5 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ATTGACCGAGAGAGCCTGTG -3'
(R):5'- ATGACCGAGATAAGGCTGGTC -3'
Sequencing Primer
(F):5'- CGAGAGAGCCTGTGCGGAG -3'
(R):5'- AGATAAGGCTGGTCCCTGAGC -3'
|
|---|
| Posted On | 2014-10-01 |
|---|
