Incidental Mutation 'R7863:Pcdhgc4'
| ID |
607692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc4
|
| Ensembl Gene |
ENSMUSG00000023036 |
| Gene Name |
protocadherin gamma subfamily C, 4 |
| Synonyms |
|
| MMRRC Submission |
045916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37948132-37974926 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37951027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 814
(Y814*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068846
(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]
|
| AlphaFold |
Q91XX0 |
| 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
|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
| 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 null
Transcript: ENSMUST00000066140
AA Change: Y814*
|
| SMART Domains |
Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: Y814*
| 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 |
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 |
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: 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 |
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,101 (GRCm39) |
S829P |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,107,179 (GRCm39) |
F183I |
probably benign |
Het |
| Abca12 |
A |
T |
1: 71,332,656 (GRCm39) |
M1235K |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,844,655 (GRCm39) |
D1488G |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,596 (GRCm39) |
Y387C |
probably damaging |
Het |
| Adnp |
T |
C |
2: 168,031,270 (GRCm39) |
K14E |
possibly damaging |
Het |
| Ago3 |
T |
C |
4: 126,243,990 (GRCm39) |
R721G |
possibly damaging |
Het |
| Aldh3b3 |
T |
A |
19: 4,015,322 (GRCm39) |
Y196* |
probably null |
Het |
| Alox12b |
T |
C |
11: 69,057,753 (GRCm39) |
W506R |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,338,734 (GRCm39) |
I402V |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,046,247 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,475 (GRCm39) |
N767S |
possibly damaging |
Het |
| Cldn6 |
A |
G |
17: 23,900,096 (GRCm39) |
N20S |
probably benign |
Het |
| Col23a1 |
A |
T |
11: 51,463,597 (GRCm39) |
I420F |
probably damaging |
Het |
| Cxcr6 |
G |
A |
9: 123,639,914 (GRCm39) |
R312Q |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,622 (GRCm39) |
V35A |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,446,841 (GRCm39) |
N548D |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,954 (GRCm39) |
V50A |
possibly damaging |
Het |
| Epha8 |
T |
A |
4: 136,660,966 (GRCm39) |
I639F |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,344,692 (GRCm39) |
R211* |
probably null |
Het |
| Espn |
C |
T |
4: 152,236,616 (GRCm39) |
V17M |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,863 (GRCm39) |
L403P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,383 (GRCm39) |
Y154C |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,059,388 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gpr12 |
T |
C |
5: 146,520,370 (GRCm39) |
D184G |
possibly damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,317 (GRCm39) |
A63T |
probably damaging |
Het |
| Hmx2 |
G |
T |
7: 131,156,082 (GRCm39) |
G16V |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,135 (GRCm39) |
V4009A |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,248 (GRCm39) |
D61G |
not run |
Het |
| Ikzf2 |
G |
T |
1: 69,609,796 (GRCm39) |
Q144K |
possibly damaging |
Het |
| Il1rap |
C |
T |
16: 26,495,461 (GRCm39) |
R23C |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,967,166 (GRCm39) |
D161E |
possibly damaging |
Het |
| Klhl8 |
T |
C |
5: 104,019,968 (GRCm39) |
N351S |
probably benign |
Het |
| Krt28 |
G |
A |
11: 99,255,999 (GRCm39) |
T420I |
possibly damaging |
Het |
| Marchf7 |
T |
A |
2: 60,071,366 (GRCm39) |
H623Q |
probably benign |
Het |
| Max |
A |
G |
12: 76,986,848 (GRCm39) |
I63T |
probably damaging |
Het |
| Mrpl28 |
T |
A |
17: 26,343,615 (GRCm39) |
V125E |
possibly damaging |
Het |
| Mtmr10 |
T |
A |
7: 63,969,205 (GRCm39) |
D322E |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,045,435 (GRCm39) |
T366A |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,342,059 (GRCm39) |
Y529N |
possibly damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,176,509 (GRCm39) |
I31T |
probably benign |
Het |
| Oaz2 |
G |
A |
9: 65,596,449 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Or4c121 |
T |
G |
2: 89,024,295 (GRCm39) |
I28L |
probably benign |
Het |
| Or5a1 |
T |
G |
19: 12,097,974 (GRCm39) |
D34A |
possibly damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,424 (GRCm39) |
Y32S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,714,163 (GRCm39) |
I243K |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,085,403 (GRCm39) |
N171I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,487,084 (GRCm39) |
V400E |
possibly damaging |
Het |
| Pira13 |
C |
T |
7: 3,827,801 (GRCm39) |
|
probably null |
Het |
| Psg28 |
T |
A |
7: 18,162,042 (GRCm39) |
T154S |
possibly damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,090 (GRCm39) |
M99K |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,606,097 (GRCm39) |
M1L |
probably benign |
Het |
| Rbp4 |
T |
C |
19: 38,112,546 (GRCm39) |
T140A |
possibly damaging |
Het |
| Rhbdd3 |
G |
A |
11: 5,053,236 (GRCm39) |
R12Q |
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,342,327 (GRCm39) |
N372S |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,112,350 (GRCm39) |
E88G |
possibly damaging |
Het |
| Shfl |
G |
A |
9: 20,782,672 (GRCm39) |
A79T |
possibly damaging |
Het |
| Slc49a3 |
A |
T |
5: 108,593,400 (GRCm39) |
L146Q |
probably damaging |
Het |
| Slc6a9 |
G |
T |
4: 117,721,207 (GRCm39) |
C319F |
probably damaging |
Het |
| Smc6 |
T |
G |
12: 11,339,130 (GRCm39) |
V322G |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,073,609 (GRCm39) |
F1336I |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,815,788 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
A |
10: 86,808,745 (GRCm39) |
T188I |
probably benign |
Het |
| Tbata |
A |
G |
10: 61,011,521 (GRCm39) |
E19G |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,760 (GRCm39) |
V757A |
possibly damaging |
Het |
| Tle1 |
T |
C |
4: 72,059,529 (GRCm39) |
S261G |
probably null |
Het |
| Tlr3 |
T |
A |
8: 45,850,774 (GRCm39) |
I708L |
probably benign |
Het |
| Tph2 |
A |
C |
10: 114,915,906 (GRCm39) |
S422R |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,161,664 (GRCm39) |
T28A |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,855,554 (GRCm39) |
L27S |
probably benign |
Het |
| Tubb6 |
T |
C |
18: 67,534,790 (GRCm39) |
S230P |
probably damaging |
Het |
| Usf1 |
C |
T |
1: 171,245,385 (GRCm39) |
Q266* |
probably null |
Het |
| Vegfa |
A |
G |
17: 46,336,461 (GRCm39) |
F220L |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,428,937 (GRCm39) |
C713Y |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,568,035 (GRCm39) |
S53T |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,343,074 (GRCm39) |
T1772S |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,007,747 (GRCm39) |
I62T |
probably benign |
Het |
| Zfp516 |
T |
A |
18: 83,019,453 (GRCm39) |
I1157N |
probably benign |
Het |
| Zfp819 |
C |
A |
7: 43,267,316 (GRCm39) |
Q600K |
probably benign |
Het |
|
| Other mutations in Pcdhgc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R5478:Pcdhgc4
|
UTSW |
18 |
37,950,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Pcdhgc4
|
UTSW |
18 |
37,950,653 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7161:Pcdhgc4
|
UTSW |
18 |
37,948,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7175:Pcdhgc4
|
UTSW |
18 |
37,949,424 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7996:Pcdhgc4
|
UTSW |
18 |
37,950,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Pcdhgc4
|
UTSW |
18 |
37,950,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Pcdhgc4
|
UTSW |
18 |
37,948,685 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9354:Pcdhgc4
|
UTSW |
18 |
37,949,640 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9581:Pcdhgc4
|
UTSW |
18 |
37,950,189 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9669:Pcdhgc4
|
UTSW |
18 |
37,949,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Pcdhgc4
|
UTSW |
18 |
37,951,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAATCCAGCTAGGGTCAGAAG -3'
(R):5'- TATAGGCTTGACTCATCCCCAAG -3'
Sequencing Primer
(F):5'- GGTCAGAAGATCCTATCAAGTTTG -3'
(R):5'- CCAGTCAATTCTGAAACCACTTGTAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation