Incidental Mutation 'R4902:Pcdhga8'
| ID |
377912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga8
|
| Ensembl Gene |
ENSMUSG00000103897 |
| Gene Name |
protocadherin gamma subfamily A, 8 |
| Synonyms |
|
| MMRRC Submission |
042505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4902 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37858759-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37948978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 131
(D131E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193414]
[ENSMUST00000091935]
[ENSMUST00000193869]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000192103]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000076807]
[ENSMUST00000193941]
[ENSMUST00000193890]
[ENSMUST00000208907]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000194190]
[ENSMUST00000195239]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000194928]
|
| AlphaFold |
Q91XY0 |
| 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 damaging
Transcript: ENSMUST00000066140
AA Change: D131E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: D131E
| 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: ENSMUST00000193222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192875
|
| 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000193941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| 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: 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.8978 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (84/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
T |
C |
17: 14,326,408 (GRCm39) |
|
noncoding transcript |
Het |
| Adamdec1 |
T |
C |
14: 68,809,215 (GRCm39) |
N249S |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,241,751 (GRCm39) |
V767E |
probably benign |
Het |
| Atp6v1f |
T |
C |
6: 29,470,271 (GRCm39) |
|
probably benign |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| Cap2 |
T |
C |
13: 46,684,501 (GRCm39) |
V2A |
probably damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,668,248 (GRCm39) |
C356R |
probably damaging |
Het |
| Chtf8 |
C |
T |
8: 107,612,424 (GRCm39) |
G172R |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dact2 |
T |
A |
17: 14,416,991 (GRCm39) |
K403M |
possibly damaging |
Het |
| Dhx40 |
A |
C |
11: 86,662,036 (GRCm39) |
L674V |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,044,285 (GRCm39) |
V1230A |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,329,935 (GRCm39) |
S3260T |
probably benign |
Het |
| Eef1a2 |
T |
A |
2: 180,789,881 (GRCm39) |
D428V |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,344,273 (GRCm39) |
F178L |
possibly damaging |
Het |
| Eif4a3l1 |
T |
G |
6: 136,306,262 (GRCm39) |
V241G |
probably benign |
Het |
| F2 |
A |
T |
2: 91,465,316 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,844,723 (GRCm39) |
D507G |
unknown |
Het |
| Fbxo11 |
G |
A |
17: 88,372,702 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,168 (GRCm39) |
M2871L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,095,512 (GRCm39) |
D442G |
probably damaging |
Het |
| Gemin5 |
A |
G |
11: 58,055,103 (GRCm39) |
I214T |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,204,455 (GRCm39) |
N175S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Jhy |
C |
T |
9: 40,808,821 (GRCm39) |
|
probably benign |
Het |
| Krtap5-5 |
A |
T |
7: 141,783,156 (GRCm39) |
C165S |
unknown |
Het |
| Lce1k |
T |
A |
3: 92,714,134 (GRCm39) |
T17S |
unknown |
Het |
| Map3k1 |
C |
T |
13: 111,909,146 (GRCm39) |
R268Q |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,883,195 (GRCm39) |
H1351Q |
probably damaging |
Het |
| Met |
T |
C |
6: 17,546,995 (GRCm39) |
V876A |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,936,107 (GRCm39) |
S903P |
probably benign |
Het |
| Mkks |
A |
G |
2: 136,718,094 (GRCm39) |
V396A |
probably benign |
Het |
| Mvk |
T |
C |
5: 114,594,060 (GRCm39) |
V305A |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,081,360 (GRCm39) |
T982A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,588,311 (GRCm39) |
V209A |
probably benign |
Het |
| Nfkbib |
G |
T |
7: 28,461,173 (GRCm39) |
S158* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,235,518 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,480,624 (GRCm39) |
T63I |
probably benign |
Het |
| Or2t43 |
G |
A |
11: 58,457,451 (GRCm39) |
S240F |
possibly damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,796 (GRCm39) |
S202P |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,648,264 (GRCm39) |
|
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,066,451 (GRCm39) |
V214A |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,628,027 (GRCm39) |
|
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,638,175 (GRCm39) |
Q315R |
probably damaging |
Het |
| Psg29 |
G |
T |
7: 16,945,837 (GRCm39) |
*469L |
probably null |
Het |
| Psmd4 |
A |
G |
3: 94,943,170 (GRCm39) |
V78A |
probably damaging |
Het |
| Rad9a |
C |
A |
19: 4,251,552 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
G |
T |
9: 72,524,573 (GRCm39) |
V588F |
probably benign |
Het |
| Rnase13 |
A |
C |
14: 52,160,052 (GRCm39) |
I29S |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,725,866 (GRCm39) |
N386S |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,952,680 (GRCm39) |
E719G |
probably damaging |
Het |
| Stx4a |
A |
G |
7: 127,441,934 (GRCm39) |
|
probably null |
Het |
| Tekt2 |
A |
G |
4: 126,217,263 (GRCm39) |
S212P |
possibly damaging |
Het |
| Tex19.2 |
A |
T |
11: 121,007,782 (GRCm39) |
L222Q |
probably damaging |
Het |
| Tmem50a |
A |
G |
4: 134,637,017 (GRCm39) |
I38T |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,296,922 (GRCm39) |
V286A |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,159 (GRCm39) |
M255T |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,220 (GRCm39) |
F839L |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
| Wtip |
A |
T |
7: 33,818,437 (GRCm39) |
|
probably null |
Het |
| Yeats2 |
G |
A |
16: 20,026,418 (GRCm39) |
G765S |
probably benign |
Het |
| Zbtb3 |
T |
C |
19: 8,781,331 (GRCm39) |
S315P |
probably benign |
Het |
| Zdhhc8 |
T |
C |
16: 18,045,030 (GRCm39) |
M259V |
probably benign |
Het |
| Zfp120 |
A |
G |
2: 149,961,440 (GRCm39) |
|
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,627,543 (GRCm39) |
I1552N |
possibly damaging |
Het |
|
| Other mutations in Pcdhga8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
G1patch:Pcdhga8
|
UTSW |
18 |
37,860,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4017:Pcdhga8
|
UTSW |
18 |
37,948,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4182:Pcdhga8
|
UTSW |
18 |
37,860,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4504:Pcdhga8
|
UTSW |
18 |
37,949,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4506:Pcdhga8
|
UTSW |
18 |
37,949,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4850:Pcdhga8
|
UTSW |
18 |
37,860,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Pcdhga8
|
UTSW |
18 |
37,949,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4857:Pcdhga8
|
UTSW |
18 |
37,859,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5235:Pcdhga8
|
UTSW |
18 |
37,860,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Pcdhga8
|
UTSW |
18 |
37,859,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5646:Pcdhga8
|
UTSW |
18 |
37,859,823 (GRCm39) |
missense |
probably benign |
|
|
R5943:Pcdhga8
|
UTSW |
18 |
37,949,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Pcdhga8
|
UTSW |
18 |
37,860,596 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6130:Pcdhga8
|
UTSW |
18 |
37,860,580 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6631:Pcdhga8
|
UTSW |
18 |
37,860,109 (GRCm39) |
missense |
probably benign |
|
|
R6725:Pcdhga8
|
UTSW |
18 |
37,860,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Pcdhga8
|
UTSW |
18 |
37,858,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7000:Pcdhga8
|
UTSW |
18 |
37,859,946 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7027:Pcdhga8
|
UTSW |
18 |
37,860,164 (GRCm39) |
missense |
probably benign |
|
|
R7406:Pcdhga8
|
UTSW |
18 |
37,859,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7481:Pcdhga8
|
UTSW |
18 |
37,860,990 (GRCm39) |
missense |
probably benign |
|
|
R7491:Pcdhga8
|
UTSW |
18 |
37,860,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7625:Pcdhga8
|
UTSW |
18 |
37,859,954 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7712:Pcdhga8
|
UTSW |
18 |
37,860,102 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7740:Pcdhga8
|
UTSW |
18 |
37,860,470 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7912:Pcdhga8
|
UTSW |
18 |
37,859,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7917:Pcdhga8
|
UTSW |
18 |
37,860,669 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8017:Pcdhga8
|
UTSW |
18 |
37,860,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Pcdhga8
|
UTSW |
18 |
37,860,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Pcdhga8
|
UTSW |
18 |
37,859,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8228:Pcdhga8
|
UTSW |
18 |
37,861,236 (GRCm39) |
missense |
probably benign |
|
|
R8744:Pcdhga8
|
UTSW |
18 |
37,860,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Pcdhga8
|
UTSW |
18 |
37,859,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Pcdhga8
|
UTSW |
18 |
37,858,997 (GRCm39) |
missense |
probably benign |
|
|
R9160:Pcdhga8
|
UTSW |
18 |
37,860,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Pcdhga8
|
UTSW |
18 |
37,860,892 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9192:Pcdhga8
|
UTSW |
18 |
37,859,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Pcdhga8
|
UTSW |
18 |
37,859,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Pcdhga8
|
UTSW |
18 |
37,860,519 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAACCAAAGACACTTCCGTG -3'
(R):5'- TCACGATCCAAGGGCTTCTC -3'
Sequencing Primer
(F):5'- CACTTCCGTGTGGATTTGGACAG -3'
(R):5'- TTCTCCAGAAGAAGCTCTGGGAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation