Incidental Mutation 'R4851:Pcdhga8'
| ID |
373593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga8
|
| Ensembl Gene |
ENSMUSG00000103897 |
| Gene Name |
protocadherin gamma subfamily A, 8 |
| Synonyms |
|
| MMRRC Submission |
042463-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R4851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37725706-37841873 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37816404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 291
(R291L)
|
| 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]
[ENSMUST00000208907]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000194190]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000193404]
[ENSMUST00000195823]
[ENSMUST00000194928]
[ENSMUST00000195239]
[ENSMUST00000193890]
[ENSMUST00000193941]
|
| 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: R291L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: R291L
| 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 |
noncoding transcript
Transcript: ENSMUST00000193222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192875
|
| 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: 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: 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: 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: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: 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 |
|
| 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: ENSMUST00000193890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193941
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (99/99) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451G09Rik |
A |
G |
16: 4,976,274 |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,483,890 |
R4148S |
probably benign |
Het |
| Acoxl |
T |
A |
2: 128,044,391 |
L182Q |
possibly damaging |
Het |
| Aldh7a1 |
T |
C |
18: 56,532,016 |
T364A |
possibly damaging |
Het |
| App |
T |
C |
16: 85,056,434 |
D252G |
unknown |
Het |
| Arid1a |
A |
G |
4: 133,681,361 |
I1945T |
unknown |
Het |
| Arsk |
C |
T |
13: 76,065,279 |
|
probably null |
Het |
| Atad2b |
G |
A |
12: 4,943,251 |
G257S |
probably benign |
Het |
| Best1 |
C |
A |
19: 9,991,698 |
R218L |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,436,554 |
|
probably null |
Het |
| Cdh13 |
C |
T |
8: 118,757,390 |
T130I |
possibly damaging |
Het |
| Cela2a |
T |
C |
4: 141,825,591 |
E25G |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,725,032 |
I346F |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,389,928 |
G299D |
possibly damaging |
Het |
| Cic |
G |
A |
7: 25,272,902 |
R686H |
probably damaging |
Het |
| Cnpy1 |
T |
C |
5: 28,245,740 |
I23V |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,779,289 |
Y2034F |
unknown |
Het |
| Coq10b |
T |
C |
1: 55,071,744 |
Y224H |
probably benign |
Het |
| Cryge |
G |
T |
1: 65,051,052 |
|
probably benign |
Het |
| Cyb5rl |
T |
G |
4: 107,084,313 |
S252A |
probably benign |
Het |
| Cyp2ab1 |
T |
A |
16: 20,315,064 |
R125S |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,480,390 |
G86R |
probably damaging |
Het |
| Dmtn |
A |
G |
14: 70,604,814 |
M382T |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,716,629 |
L471* |
probably null |
Het |
| Dock10 |
A |
T |
1: 80,549,157 |
S782T |
probably benign |
Het |
| Egfem1 |
C |
A |
3: 29,151,883 |
H90N |
possibly damaging |
Het |
| Ephb6 |
T |
A |
6: 41,618,145 |
W698R |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,918,408 |
C787S |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,732,102 |
|
probably benign |
Het |
| Galc |
T |
A |
12: 98,227,274 |
Q352L |
probably benign |
Het |
| Galns |
A |
G |
8: 122,600,533 |
Y167H |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,208,884 |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,206,180 |
|
noncoding transcript |
Het |
| Gm7694 |
T |
C |
1: 170,301,225 |
N245S |
probably benign |
Het |
| Gmcl1 |
T |
G |
6: 86,704,556 |
K385N |
possibly damaging |
Het |
| Gramd1c |
A |
T |
16: 43,989,837 |
W463R |
probably damaging |
Het |
| Gtpbp8 |
C |
G |
16: 44,746,070 |
A90P |
probably benign |
Het |
| Hcar1 |
T |
C |
5: 123,878,668 |
E320G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,789,011 |
D226G |
probably damaging |
Het |
| Hist1h2bj |
G |
T |
13: 22,043,251 |
|
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 103,015,369 |
I199N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,327,648 |
D121G |
probably damaging |
Het |
| Il5ra |
T |
A |
6: 106,738,471 |
H134L |
probably benign |
Het |
| Isl2 |
T |
A |
9: 55,544,987 |
I281N |
possibly damaging |
Het |
| Kcnk13 |
T |
C |
12: 99,966,124 |
F60L |
probably damaging |
Het |
| Kdelr3 |
C |
T |
15: 79,524,865 |
T85M |
possibly damaging |
Het |
| Kdf1 |
A |
T |
4: 133,528,365 |
H131L |
probably damaging |
Het |
| Mipol1 |
T |
A |
12: 57,332,301 |
L182I |
probably damaging |
Het |
| Morc1 |
T |
G |
16: 48,561,617 |
S513R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,878,822 |
L611H |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,699,379 |
|
probably benign |
Het |
| Mrpl51 |
T |
C |
6: 125,193,307 |
V92A |
probably benign |
Het |
| Mrps26 |
G |
A |
2: 130,563,761 |
|
probably benign |
Het |
| Mrps5 |
A |
G |
2: 127,590,745 |
T29A |
probably benign |
Het |
| Mustn1 |
A |
G |
14: 30,879,560 |
|
probably benign |
Het |
| Ncor2 |
G |
A |
5: 125,033,367 |
P858S |
possibly damaging |
Het |
| Nfasc |
A |
G |
1: 132,602,021 |
F807S |
probably damaging |
Het |
| Nup50 |
G |
A |
15: 84,939,711 |
V422I |
probably benign |
Het |
| Olfr1044 |
T |
A |
2: 86,171,671 |
I49F |
probably damaging |
Het |
| Olfr1212 |
A |
G |
2: 88,958,586 |
N40S |
probably damaging |
Het |
| Olfr384 |
A |
T |
11: 73,603,057 |
H159L |
probably damaging |
Het |
| Olfr411 |
C |
A |
11: 74,346,943 |
V214L |
probably benign |
Het |
| Olfr417 |
T |
A |
1: 174,368,996 |
F26L |
probably benign |
Het |
| Olfr539 |
A |
T |
7: 140,667,313 |
M2L |
probably benign |
Het |
| Olfr695 |
A |
T |
7: 106,874,014 |
V77D |
probably damaging |
Het |
| Olfr907 |
T |
A |
9: 38,499,023 |
M118K |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,204,800 |
M1K |
probably null |
Het |
| Pcdhb22 |
A |
C |
18: 37,519,034 |
D185A |
possibly damaging |
Het |
| Saysd1 |
A |
T |
14: 20,077,604 |
L84Q |
possibly damaging |
Het |
| Slc41a1 |
T |
C |
1: 131,830,770 |
I50T |
probably benign |
Het |
| Smg7 |
G |
A |
1: 152,844,269 |
P834S |
probably benign |
Het |
| Speer4a |
C |
T |
5: 26,038,212 |
V92M |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,549,474 |
T461A |
probably benign |
Het |
| Ssu72 |
A |
G |
4: 155,715,596 |
D72G |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,834,192 |
E890G |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,310,621 |
|
probably null |
Het |
| Tm6sf1 |
A |
G |
7: 81,865,343 |
E7G |
probably null |
Het |
| Tm9sf2 |
A |
G |
14: 122,141,204 |
K240R |
probably benign |
Het |
| Tmem52 |
T |
A |
4: 155,470,368 |
Y149* |
probably null |
Het |
| Tpgs2 |
A |
T |
18: 25,151,248 |
Y68N |
possibly damaging |
Het |
| Vmn1r205 |
T |
A |
13: 22,592,904 |
E9D |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,954 |
V7A |
possibly damaging |
Het |
| Vmn2r80 |
T |
C |
10: 79,194,322 |
Y661H |
possibly damaging |
Het |
| Vps39 |
G |
A |
2: 120,321,831 |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,196,048 |
V326D |
possibly damaging |
Het |
| Zfp641 |
T |
A |
15: 98,288,717 |
S342C |
probably damaging |
Het |
| Zfp961 |
T |
C |
8: 71,969,003 |
|
probably benign |
Het |
|
| Other mutations in Pcdhga8 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACTGCTGTAGATGGAG -3'
(R):5'- TCGTTCACATCTAGAAGATCCACC -3'
Sequencing Primer
(F):5'- TAGATCTGGAACCGCAGAGCTC -3'
(R):5'- ACCCTAAGGCTGCAGTGTTG -3'
|
| Posted On |
2016-03-01 |
