Incidental Mutation 'R5995:Pcdhgc5'
| ID |
481093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc5
|
| Ensembl Gene |
ENSMUSG00000102543 |
| Gene Name |
protocadherin gamma subfamily C, 5 |
| Synonyms |
|
| MMRRC Submission |
044174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.815)
|
| Stock # |
R5995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37952599-37974926 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37954113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 462
(Y462*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000192511]
[ENSMUST00000193404]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000076807]
[ENSMUST00000193414]
[ENSMUST00000192103]
[ENSMUST00000208907]
[ENSMUST00000195112]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000193941]
[ENSMUST00000195764]
[ENSMUST00000195239]
[ENSMUST00000194544]
[ENSMUST00000193890]
[ENSMUST00000194928]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000194418]
|
| 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 null
Transcript: ENSMUST00000055935
AA Change: Y462*
|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: Y462*
| 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 |
noncoding transcript
Transcript: ENSMUST00000192875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192984
|
| 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000194068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| 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: 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: 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: ENSMUST00000193941
|
| 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: 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: ENSMUST00000193984
|
| 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: ENSMUST00000193890
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (56/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
| Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
| Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
| Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
| Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
| Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,111 (GRCm39) |
Y618F |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,546,487 (GRCm39) |
I374L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
| Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
| Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
| Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
| Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
| Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,657,704 (GRCm39) |
M425K |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
| Pou2f2 |
T |
G |
7: 24,796,869 (GRCm39) |
K236Q |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,850,681 (GRCm39) |
C1261F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
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 |
|
R1765:Pcdhgc5
|
UTSW |
18 |
37,954,913 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CCTGCCATTTCAGATCAAGCC -3'
(R):5'- CTCATAGTCAAAGGTCCGCTG -3'
Sequencing Primer
(F):5'- TTTCAGATCAAGCCTTCTGAGAACC -3'
(R):5'- TGGGCAAAGATTCGTCCATC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation