Incidental Mutation 'R0265:Pcdhgc5'
| ID |
34891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc5
|
| Ensembl Gene |
ENSMUSG00000102543 |
| Gene Name |
protocadherin gamma subfamily C, 5 |
| Synonyms |
|
| MMRRC Submission |
038491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R0265 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37819513-37841873 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37821350 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 559
(D559V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000193869]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000193890]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000194928]
[ENSMUST00000195239]
[ENSMUST00000193941]
[ENSMUST00000192535]
[ENSMUST00000194544]
[ENSMUST00000193404]
[ENSMUST00000195764]
[ENSMUST00000195112]
[ENSMUST00000208907]
|
| 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 damaging
Transcript: ENSMUST00000055935
AA Change: D559V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: D559V
| 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 |
noncoding transcript
Transcript: ENSMUST00000192861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: 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
|
| 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: 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: 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: 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: 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: ENSMUST00000208907
|
| Meta Mutation Damage Score |
0.9523 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930452B06Rik |
T |
G |
14: 8,431,667 |
Y655S |
probably damaging |
Het |
| 9330182L06Rik |
T |
C |
5: 9,434,681 |
L486P |
probably damaging |
Het |
| Abca14 |
A |
G |
7: 120,223,627 |
I321V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 88,324,763 |
D837G |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,640,076 |
Y457* |
probably null |
Het |
| Alox5 |
T |
C |
6: 116,420,362 |
Y287C |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,480,524 |
|
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,493,681 |
K815E |
unknown |
Het |
| Atp11a |
A |
T |
8: 12,856,930 |
|
probably benign |
Het |
| Atp6v0a1 |
A |
T |
11: 101,048,515 |
D702V |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,761,844 |
N108Y |
probably damaging |
Het |
| Ccdc57 |
G |
C |
11: 120,921,811 |
A39G |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 37,081,376 |
V581D |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,672,879 |
|
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 104,167,950 |
P1836R |
probably damaging |
Het |
| Ddit4l |
C |
T |
3: 137,624,287 |
|
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,690,271 |
I1024F |
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,727,338 |
F213I |
probably damaging |
Het |
| Edrf1 |
G |
A |
7: 133,657,045 |
D717N |
probably damaging |
Het |
| Efna5 |
G |
A |
17: 62,651,073 |
P63S |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,558,481 |
Y248C |
probably damaging |
Het |
| Flcn |
G |
A |
11: 59,795,809 |
Q373* |
probably null |
Het |
| Fry |
T |
C |
5: 150,434,776 |
V1908A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 57,381,617 |
Y58* |
probably null |
Het |
| Gabrp |
A |
T |
11: 33,552,614 |
Y417N |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,304,952 |
|
probably null |
Het |
| Grip2 |
C |
A |
6: 91,773,792 |
|
probably null |
Het |
| Gsx2 |
A |
G |
5: 75,077,068 |
Y227C |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 17,035,868 |
*665W |
probably null |
Het |
| Hist1h2aa |
T |
C |
13: 23,934,649 |
V63A |
probably benign |
Het |
| Hsd3b1 |
C |
A |
3: 98,852,773 |
V301L |
probably damaging |
Het |
| Ifitm5 |
T |
C |
7: 140,950,008 |
|
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,378,986 |
D498V |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,992,459 |
D554E |
probably benign |
Het |
| Itk |
G |
A |
11: 46,389,458 |
|
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,795,663 |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,948,234 |
V470A |
probably benign |
Het |
| Lamb3 |
T |
A |
1: 193,320,531 |
W95R |
probably damaging |
Het |
| Lbhd2 |
T |
A |
12: 111,410,242 |
I41N |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,490,670 |
S1014C |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,785,969 |
|
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,822,182 |
I1144T |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,635,163 |
|
probably benign |
Het |
| Mocos |
A |
G |
18: 24,666,276 |
D189G |
probably benign |
Het |
| Mvb12a |
T |
A |
8: 71,547,010 |
F224L |
probably damaging |
Het |
| Myo15 |
A |
T |
11: 60,514,897 |
|
probably null |
Het |
| Nos2 |
A |
T |
11: 78,937,602 |
H249L |
probably damaging |
Het |
| Notum |
A |
G |
11: 120,658,334 |
M184T |
probably benign |
Het |
| Nvl |
C |
A |
1: 181,134,830 |
D192Y |
probably damaging |
Het |
| Olfr1024 |
T |
A |
2: 85,904,247 |
N269I |
probably benign |
Het |
| Olfr1065 |
C |
A |
2: 86,445,959 |
V8L |
probably benign |
Het |
| Olfr1308 |
T |
C |
2: 111,960,494 |
Y193C |
probably damaging |
Het |
| Olfr204 |
A |
T |
16: 59,315,071 |
F112Y |
probably damaging |
Het |
| Olfr218 |
A |
G |
1: 173,203,917 |
K187R |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 119,445,657 |
I397V |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,616,424 |
V123A |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,348,259 |
Y181C |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,828,794 |
N151S |
unknown |
Het |
| Plxnc1 |
C |
A |
10: 94,813,129 |
G1263C |
probably benign |
Het |
| Rad51ap1 |
A |
G |
6: 126,924,197 |
*338Q |
probably null |
Het |
| Raver1 |
A |
G |
9: 21,075,659 |
S676P |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,688,577 |
E196G |
possibly damaging |
Het |
| Rreb1 |
A |
T |
13: 37,916,155 |
K187* |
probably null |
Het |
| Rxfp1 |
T |
C |
3: 79,667,654 |
T217A |
probably benign |
Het |
| Rxra |
T |
C |
2: 27,752,430 |
L305P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,227,066 |
|
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,876,598 |
E952D |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,169,970 |
S343T |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 45,785,337 |
|
probably benign |
Het |
| Supt7l |
C |
T |
5: 31,515,918 |
V329I |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,941,495 |
R311H |
probably benign |
Het |
| Tac1 |
T |
C |
6: 7,559,165 |
|
probably benign |
Het |
| Tcn2 |
A |
T |
11: 3,922,044 |
V361D |
probably damaging |
Het |
| Tm2d3 |
G |
A |
7: 65,697,834 |
A170T |
possibly damaging |
Het |
| Tnks |
G |
A |
8: 34,839,970 |
R1142* |
probably null |
Het |
| Ttll7 |
C |
A |
3: 146,944,160 |
Y648* |
probably null |
Het |
| Umod |
G |
T |
7: 119,466,073 |
Q578K |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,027,204 |
|
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,167,957 |
A408V |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,338,960 |
I1013T |
probably benign |
Het |
| Wdr60 |
T |
C |
12: 116,257,406 |
|
probably benign |
Het |
| Zfp704 |
C |
A |
3: 9,565,157 |
R48L |
probably damaging |
Het |
|
| Other mutations in Pcdhgc5 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCACATCCCATTATACCATCGAG -3'
(R):5'- AGTAAGAGAGCCATGCATTGTGACC -3'
Sequencing Primer
(F):5'- TCAGGCTGAACATTTCAGACG -3'
(R):5'- ATGCATTGTGACCAGCGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation