Incidental Mutation 'R9223:Pcdhgc4'
| ID |
699628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc4
|
| Ensembl Gene |
ENSMUSG00000023036 |
| Gene Name |
protocadherin gamma subfamily C, 4 |
| Synonyms |
|
| MMRRC Submission |
068959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37948132-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37948685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 34
(I34V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000066140
AA Change: I34V
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: I34V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
C |
A |
9: 101,820,193 (GRCm39) |
D204E |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,156,037 (GRCm39) |
S80P |
probably benign |
Het |
| Bcl6b |
A |
T |
11: 70,117,400 (GRCm39) |
Y407* |
probably null |
Het |
| Ccn2 |
T |
C |
10: 24,471,856 (GRCm39) |
V49A |
probably benign |
Het |
| Cel |
TTA |
TTATA |
2: 28,449,441 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
T |
2: 79,171,674 (GRCm39) |
C395S |
probably damaging |
Het |
| Chst5 |
C |
A |
8: 112,617,492 (GRCm39) |
V43L |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,784,337 (GRCm39) |
F271I |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,484,411 (GRCm39) |
T1190A |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,648,528 (GRCm39) |
E938D |
probably damaging |
Het |
| Dmrta2 |
G |
A |
4: 109,839,779 (GRCm39) |
V509M |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,361,420 (GRCm39) |
M3440K |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,029,184 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
G |
7: 130,927,869 (GRCm39) |
S107P |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,149,358 (GRCm39) |
I708N |
probably benign |
Het |
| Fbxo11 |
A |
T |
17: 88,323,124 (GRCm39) |
D12E |
|
Het |
| Fbxw13 |
T |
C |
9: 109,024,116 (GRCm39) |
D39G |
probably damaging |
Het |
| Gabrb3 |
T |
G |
7: 57,466,152 (GRCm39) |
L322R |
probably damaging |
Het |
| Gm5239 |
A |
T |
18: 35,669,672 (GRCm39) |
I13F |
possibly damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,802 (GRCm39) |
Y375C |
probably benign |
Het |
| Helq |
A |
T |
5: 100,946,303 (GRCm39) |
S13T |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,918 (GRCm39) |
T514A |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,522,552 (GRCm39) |
V32A |
|
Het |
| Htra4 |
A |
G |
8: 25,527,048 (GRCm39) |
I249T |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,062,692 (GRCm39) |
V2809L |
probably benign |
Het |
| Ifi203 |
T |
A |
1: 173,765,437 (GRCm39) |
I46F |
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,306 (GRCm39) |
I296F |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,357 (GRCm39) |
E882G |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,071 (GRCm39) |
D444E |
probably benign |
Het |
| Lrrtm3 |
ATTTT |
ATTTTT |
10: 63,925,035 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
C |
T |
12: 66,615,634 (GRCm39) |
D658N |
possibly damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,183 (GRCm39) |
K316R |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,553,666 (GRCm39) |
C165Y |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,867 (GRCm39) |
F1843L |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,220,093 (GRCm39) |
R338Q |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,364,184 (GRCm39) |
R372H |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,202,599 (GRCm39) |
S1461Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,814,738 (GRCm39) |
V282D |
possibly damaging |
Het |
| Nup98 |
C |
A |
7: 101,834,167 (GRCm39) |
G265V |
possibly damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,911 (GRCm39) |
F260S |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,513,980 (GRCm39) |
T192A |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,442,012 (GRCm39) |
E24K |
possibly damaging |
Het |
| Or4f58 |
T |
A |
2: 111,851,517 (GRCm39) |
K227N |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,473 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8k18 |
G |
T |
2: 86,085,544 (GRCm39) |
F164L |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,690,205 (GRCm39) |
E888D |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,807,376 (GRCm39) |
R417G |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,778 (GRCm39) |
S311G |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,812 (GRCm39) |
V105A |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,183,444 (GRCm39) |
D102G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,066,772 (GRCm39) |
I184V |
probably damaging |
Het |
| Spopfm2 |
A |
C |
3: 94,082,950 (GRCm39) |
L287R |
probably damaging |
Het |
| Tex35 |
A |
T |
1: 156,935,436 (GRCm39) |
C21S |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,282,649 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,897,998 (GRCm39) |
C607Y |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,963,166 (GRCm39) |
M395K |
probably benign |
Het |
| Trim43b |
A |
C |
9: 88,967,663 (GRCm39) |
H324Q |
probably benign |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,141 (GRCm39) |
Y625F |
probably damaging |
Het |
| Yipf3 |
A |
T |
17: 46,559,798 (GRCm39) |
N38I |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,496 (GRCm39) |
E522D |
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 |
|
R7863:Pcdhgc4
|
UTSW |
18 |
37,951,027 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- CCTGCCAATCGGGTAATGAAAGG -3'
(R):5'- AGTGCCTCTCGATCGATTGG -3'
Sequencing Primer
(F):5'- AAACGGCGCGTAACCCTTG -3'
(R):5'- CCTCTCGATCGATTGGATTTTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation