Incidental Mutation 'R4765:Pcdhgc5'
| ID |
366101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc5
|
| Ensembl Gene |
ENSMUSG00000102543 |
| Gene Name |
protocadherin gamma subfamily C, 5 |
| Synonyms |
|
| MMRRC Submission |
042406-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R4765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37819513-37841873 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37822069 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 799
(S799P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000194544]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000193941]
[ENSMUST00000195239]
[ENSMUST00000194928]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000194190]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000193890]
[ENSMUST00000195764]
[ENSMUST00000192535]
[ENSMUST00000195363]
[ENSMUST00000195823]
[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 benign
Transcript: ENSMUST00000055935
AA Change: S799P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: S799P
| 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: ENSMUST00000192875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194068
|
| 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: 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: ENSMUST00000193941
|
| 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: 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: 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: 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: 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: 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: ENSMUST00000193890
|
| 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: 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: 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: ENSMUST00000208907
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,881,161 |
R490C |
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,245,867 |
F1166I |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,246,152 |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,106,919 |
I6195T |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,421,259 |
L458M |
probably damaging |
Het |
| Ankfy1 |
T |
G |
11: 72,712,291 |
S49A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 118,061,471 |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,510,750 |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,940,593 |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,278 |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 47,713,547 |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,549,545 |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,732,321 |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,966,244 |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,997,440 |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,326,191 |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,214,096 |
R1536S |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 32,937,635 |
D752A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,927,726 |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,348,731 |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,250,280 |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,792,909 |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,992,222 |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,875,672 |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,281,187 |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,462,236 |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,833,271 |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,966,313 |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,541,097 |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,108 |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,916,361 |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,857,977 |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,842,539 |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,329,705 |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 76,977,543 |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,340,848 |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,854,395 |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,449,694 |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,287,794 |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 82,112,485 |
I946F |
possibly damaging |
Het |
| Mkl2 |
C |
A |
16: 13,412,594 |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 31,961,900 |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,819,024 |
|
probably null |
Het |
| Olfr142 |
T |
A |
2: 90,252,463 |
Y175F |
probably damaging |
Het |
| Olfr1449 |
T |
C |
19: 12,935,076 |
C113R |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,802,022 |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,222,052 |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,200,489 |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 101,040,471 |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,659,298 |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,219,431 |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,988,303 |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,096,803 |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,199,486 |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,038,083 |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,440,157 |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,369,216 |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,500,409 |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,527,155 |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,670,888 |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,296,877 |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,742,927 |
I1284V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,710,987 |
L33885P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,772,507 |
Y16711C |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,479,140 |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,963,442 |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,199,901 |
Y320C |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,240,547 |
V465A |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 182,157,906 |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,823,223 |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,906,568 |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,400,152 |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 11,162,667 |
M259L |
probably benign |
Het |
|
| Other mutations in Pcdhgc5 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAGTTCTATAAGCAGTCCAG -3'
(R):5'- CAGCCACTCTGATTGTCCAC -3'
Sequencing Primer
(F):5'- TTCTATAAGCAGTCCAGCCCCAAC -3'
(R):5'- TTTCAAACGCATCCAACAGGTGTG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation