Incidental Mutation 'R7463:Pcdhgb8'
| ID |
578593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb8
|
| Ensembl Gene |
ENSMUSG00000103081 |
| Gene Name |
protocadherin gamma subfamily B, 8 |
| Synonyms |
|
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37894854-37973542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37896480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 517
(A517T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000208907]
[ENSMUST00000195823]
|
| AlphaFold |
no structure available at present |
| 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: 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 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: 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: 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: 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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: A517T
| 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: ENSMUST00000208907
AA Change: A517T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
| Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Pcdhgb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Pcdhgb8
|
APN |
18 |
37,958,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Pcdhgb8
|
UTSW |
18 |
37,897,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2763:Pcdhgb8
|
UTSW |
18 |
37,895,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Pcdhgb8
|
UTSW |
18 |
37,895,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3926:Pcdhgb8
|
UTSW |
18 |
37,895,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Pcdhgb8
|
UTSW |
18 |
37,896,414 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4167:Pcdhgb8
|
UTSW |
18 |
37,895,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4183:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Pcdhgb8
|
UTSW |
18 |
37,896,114 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4585:Pcdhgb8
|
UTSW |
18 |
37,895,413 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4762:Pcdhgb8
|
UTSW |
18 |
37,895,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Pcdhgb8
|
UTSW |
18 |
37,897,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Pcdhgb8
|
UTSW |
18 |
37,895,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5992:Pcdhgb8
|
UTSW |
18 |
37,896,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdhgb8
|
UTSW |
18 |
37,895,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6034:Pcdhgb8
|
UTSW |
18 |
37,895,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6346:Pcdhgb8
|
UTSW |
18 |
37,895,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Pcdhgb8
|
UTSW |
18 |
37,896,580 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6833:Pcdhgb8
|
UTSW |
18 |
37,895,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6834:Pcdhgb8
|
UTSW |
18 |
37,895,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7032:Pcdhgb8
|
UTSW |
18 |
37,896,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Pcdhgb8
|
UTSW |
18 |
37,896,201 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7145:Pcdhgb8
|
UTSW |
18 |
37,896,050 (GRCm39) |
nonsense |
probably null |
|
|
R7165:Pcdhgb8
|
UTSW |
18 |
37,896,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7240:Pcdhgb8
|
UTSW |
18 |
37,896,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7314:Pcdhgb8
|
UTSW |
18 |
37,896,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Pcdhgb8
|
UTSW |
18 |
37,897,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8052:Pcdhgb8
|
UTSW |
18 |
37,896,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8477:Pcdhgb8
|
UTSW |
18 |
37,896,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Pcdhgb8
|
UTSW |
18 |
37,895,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Pcdhgb8
|
UTSW |
18 |
37,896,177 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9095:Pcdhgb8
|
UTSW |
18 |
37,896,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCAAGTGGCTGAGAACAAC -3'
(R):5'- CCACTTTGGTGACCAGGTATC -3'
Sequencing Primer
(F):5'- TGGCTGAGAACAACCCTCCTG -3'
(R):5'- ACCATGTCGAAGAGCGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation