Incidental Mutation 'R7062:Pcdhga1'
| ID |
548377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga1
|
| Ensembl Gene |
ENSMUSG00000103144 |
| Gene Name |
protocadherin gamma subfamily A, 1 |
| Synonyms |
|
| MMRRC Submission |
045158-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37794846-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37958130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 826
(S826R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000194190]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000193890]
[ENSMUST00000193941]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195239]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000208907]
|
| AlphaFold |
Q91XZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003599
AA Change: S825R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: S825R
| 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
AA Change: S827R
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: S827R
| 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 |
possibly damaging
Transcript: ENSMUST00000055935
AA Change: S839R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: S839R
| 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 damaging
Transcript: ENSMUST00000061279
AA Change: S828R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: S828R
| 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: S836R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: S836R
| 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 damaging
Transcript: ENSMUST00000066149
AA Change: S827R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
AA Change: S827R
| 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 damaging
Transcript: ENSMUST00000073447
AA Change: S823R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: S823R
| 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 damaging
Transcript: ENSMUST00000194190
AA Change: S826R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
AA Change: S826R
| 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 damaging
Transcript: ENSMUST00000076807
AA Change: S829R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: S829R
| 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 damaging
Transcript: ENSMUST00000091935
AA Change: S827R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: S827R
| 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
AA Change: S814R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
AA Change: S814R
| 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 damaging
Transcript: ENSMUST00000192511
AA Change: S830R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: S830R
| 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
AA Change: S821R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: S821R
| 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 damaging
Transcript: ENSMUST00000192931
AA Change: S813R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
AA Change: S813R
| 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 damaging
Transcript: ENSMUST00000193404
AA Change: S825R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: S825R
| 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 damaging
Transcript: ENSMUST00000193414
AA Change: S827R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: S827R
| 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 damaging
Transcript: ENSMUST00000193869
AA Change: S826R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: S826R
| 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 damaging
Transcript: ENSMUST00000193890
AA Change: S27R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193941
AA Change: A32E
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194418
AA Change: S825R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
AA Change: S825R
| 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
AA Change: S93R
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
AA Change: S93R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194928
AA Change: S824R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
AA Change: S824R
| 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
AA Change: S823R
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: S823R
| 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 damaging
Transcript: ENSMUST00000195239
AA Change: S26R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141244
Gene: ENSMUSG00000023036
AA Change: S26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195363
AA Change: S807R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: S807R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: S826R
| 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 damaging
Transcript: ENSMUST00000195823
AA Change: S827R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: S827R
| 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 damaging
Transcript: ENSMUST00000208907
AA Change: S826R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (86/87) |
| 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]
PHENOTYPE: Mice homozygous for a null/reporter allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,544,872 (GRCm39) |
D1370V |
probably damaging |
Het |
| Ackr1 |
A |
T |
1: 173,159,682 (GRCm39) |
I279N |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,366,091 (GRCm39) |
H536R |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,166 (GRCm39) |
T226A |
possibly damaging |
Het |
| Apol10b |
T |
A |
15: 77,469,473 (GRCm39) |
M235L |
probably benign |
Het |
| Arhgap44 |
T |
C |
11: 64,902,758 (GRCm39) |
T570A |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,516,081 (GRCm39) |
|
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,657,834 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,782,223 (GRCm39) |
A193V |
probably damaging |
Het |
| Ccl20 |
G |
A |
1: 83,095,535 (GRCm39) |
C32Y |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,268 (GRCm39) |
E16G |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,309,826 (GRCm39) |
N1591I |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,456,785 (GRCm39) |
E306G |
probably benign |
Het |
| Cpa1 |
C |
T |
6: 30,640,676 (GRCm39) |
A106V |
probably benign |
Het |
| Ctdspl |
G |
A |
9: 118,866,538 (GRCm39) |
R199H |
probably damaging |
Het |
| Cyfip2 |
G |
A |
11: 46,151,659 (GRCm39) |
P547S |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,990 (GRCm39) |
|
probably null |
Het |
| Dnajc16 |
A |
G |
4: 141,494,001 (GRCm39) |
F549L |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 161,962,060 (GRCm39) |
K50* |
probably null |
Het |
| Eci1 |
C |
T |
17: 24,645,714 (GRCm39) |
|
probably benign |
Het |
| Eif2b4 |
C |
T |
5: 31,350,175 (GRCm39) |
C49Y |
probably benign |
Het |
| Emc3 |
A |
T |
6: 113,499,757 (GRCm39) |
I56N |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,336,745 (GRCm39) |
L563P |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,950,811 (GRCm39) |
I635K |
probably damaging |
Het |
| Espl1 |
A |
C |
15: 102,207,331 (GRCm39) |
N265T |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,042,962 (GRCm39) |
|
probably null |
Het |
| Fam186a |
G |
A |
15: 99,831,521 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
A |
T |
2: 69,534,666 (GRCm39) |
I368K |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,253 (GRCm39) |
M1I |
probably null |
Het |
| Foxj1 |
T |
C |
11: 116,222,819 (GRCm39) |
E328G |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,449,508 (GRCm39) |
|
probably benign |
Het |
| Gm6525 |
C |
T |
3: 84,082,198 (GRCm39) |
R40C |
probably benign |
Het |
| Gna12 |
G |
A |
5: 140,771,240 (GRCm39) |
T144I |
probably benign |
Het |
| Ighv9-3 |
T |
C |
12: 114,104,712 (GRCm39) |
M11V |
probably benign |
Het |
| Kcnj14 |
T |
C |
7: 45,467,314 (GRCm39) |
Y344C |
probably damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,323,737 (GRCm39) |
S496T |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,224,491 (GRCm39) |
T78A |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,712,072 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
A |
G |
14: 56,298,125 (GRCm39) |
M142T |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,541,177 (GRCm39) |
F1154S |
probably damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,361,650 (GRCm39) |
L12F |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,047,501 (GRCm39) |
V308I |
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,529,707 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,167,807 (GRCm39) |
M995L |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,939,899 (GRCm39) |
I617T |
probably benign |
Het |
| Oas1h |
C |
A |
5: 120,999,528 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
T |
A |
5: 115,049,152 (GRCm39) |
Y197* |
probably null |
Het |
| Or4k1 |
A |
G |
14: 50,377,907 (GRCm39) |
L63P |
probably damaging |
Het |
| Or52ab7 |
T |
C |
7: 102,978,293 (GRCm39) |
V200A |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,089 (GRCm39) |
N312S |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,568 (GRCm39) |
E3G |
probably benign |
Het |
| Or5p70 |
C |
T |
7: 107,995,037 (GRCm39) |
R237* |
probably null |
Het |
| Or8g35 |
A |
T |
9: 39,381,353 (GRCm39) |
I223N |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,029,537 (GRCm39) |
V27A |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,852,216 (GRCm39) |
R799S |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,607,432 (GRCm39) |
R1258G |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,210 (GRCm39) |
S21G |
probably benign |
Het |
| Ppp1r18 |
C |
A |
17: 36,179,103 (GRCm39) |
T326K |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,521 (GRCm39) |
L106P |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,054,220 (GRCm39) |
D265E |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,619 (GRCm39) |
L554P |
possibly damaging |
Het |
| Rnf17 |
G |
T |
14: 56,703,111 (GRCm39) |
V621L |
probably benign |
Het |
| Sart3 |
T |
C |
5: 113,883,663 (GRCm39) |
K783R |
possibly damaging |
Het |
| Slc23a2 |
T |
A |
2: 131,933,189 (GRCm39) |
I90F |
probably damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,212 (GRCm39) |
M331L |
probably damaging |
Het |
| Slc5a7 |
C |
G |
17: 54,600,029 (GRCm39) |
G128A |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,671,180 (GRCm39) |
Q776L |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,835 (GRCm39) |
D519E |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,830,356 (GRCm39) |
|
probably null |
Het |
| Spata18 |
T |
A |
5: 73,816,636 (GRCm39) |
N125K |
probably benign |
Het |
| Spice1 |
T |
A |
16: 44,178,259 (GRCm39) |
M94K |
probably damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,587 (GRCm39) |
|
probably null |
Het |
| Stx17 |
A |
G |
4: 48,140,442 (GRCm39) |
D49G |
probably benign |
Het |
| Tbce |
T |
C |
13: 14,194,380 (GRCm39) |
D93G |
possibly damaging |
Het |
| Tbx21 |
T |
A |
11: 96,989,719 (GRCm39) |
D491V |
probably damaging |
Het |
| Tmbim4 |
G |
T |
10: 120,044,731 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
C |
T |
6: 30,502,016 (GRCm39) |
R62H |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,158,771 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
T |
C |
10: 80,730,883 (GRCm39) |
I803T |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,292 (GRCm39) |
A7T |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,115,881 (GRCm39) |
D107G |
probably benign |
Het |
| Uso1 |
C |
A |
5: 92,340,599 (GRCm39) |
Q672K |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,196,949 (GRCm39) |
N239K |
possibly damaging |
Het |
| Zfp661 |
A |
G |
2: 127,419,040 (GRCm39) |
C367R |
probably damaging |
Het |
| Znrf3 |
T |
A |
11: 5,231,550 (GRCm39) |
E558D |
probably damaging |
Het |
|
| Other mutations in Pcdhga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Pcdhga1
|
UTSW |
18 |
37,958,140 (GRCm39) |
splice site |
probably benign |
|
|
R1869:Pcdhga1
|
UTSW |
18 |
37,973,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1871:Pcdhga1
|
UTSW |
18 |
37,973,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3723:Pcdhga1
|
UTSW |
18 |
37,796,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3732:Pcdhga1
|
UTSW |
18 |
37,797,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Pcdhga1
|
UTSW |
18 |
37,796,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Pcdhga1
|
UTSW |
18 |
37,796,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Pcdhga1
|
UTSW |
18 |
37,795,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4898:Pcdhga1
|
UTSW |
18 |
37,795,407 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4941:Pcdhga1
|
UTSW |
18 |
37,795,659 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5021:Pcdhga1
|
UTSW |
18 |
37,796,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Pcdhga1
|
UTSW |
18 |
37,796,714 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6176:Pcdhga1
|
UTSW |
18 |
37,797,282 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6380:Pcdhga1
|
UTSW |
18 |
37,796,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Pcdhga1
|
UTSW |
18 |
37,795,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7266:Pcdhga1
|
UTSW |
18 |
37,973,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7525:Pcdhga1
|
UTSW |
18 |
37,795,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pcdhga1
|
UTSW |
18 |
37,882,735 (GRCm39) |
splice site |
probably null |
|
|
R7581:Pcdhga1
|
UTSW |
18 |
37,795,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8330:Pcdhga1
|
UTSW |
18 |
37,796,376 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8385:Pcdhga1
|
UTSW |
18 |
37,795,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Pcdhga1
|
UTSW |
18 |
37,966,386 (GRCm39) |
makesense |
probably null |
|
|
R9147:Pcdhga1
|
UTSW |
18 |
37,796,433 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9148:Pcdhga1
|
UTSW |
18 |
37,796,433 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9192:Pcdhga1
|
UTSW |
18 |
37,973,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Pcdhga1
|
UTSW |
18 |
37,795,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTGGAGAGATGTGTACCC -3'
(R):5'- CTTGCTTCCAAAATAGCTGGAG -3'
Sequencing Primer
(F):5'- AGAGATGTGTACCCTCCCC -3'
(R):5'- AATAGCTGGAGCAGGCATCTCTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation