Incidental Mutation 'R8052:Pcdhgb8'
ID |
619149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb8
|
Ensembl Gene |
ENSMUSG00000103081 |
Gene Name |
protocadherin gamma subfamily B, 8 |
Synonyms |
|
MMRRC Submission |
067489-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R8052 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37894854-37973542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37896555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 542
(S542P)
|
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]
[ENSMUST00000208907]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
[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: ENSMUST00000208907
AA Change: S542P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
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: S542P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
CA
|
57 |
132 |
1.5e-4 |
SMART |
CA
|
156 |
241 |
1.2e-20 |
SMART |
CA
|
265 |
346 |
7.8e-29 |
SMART |
CA
|
370 |
451 |
1.7e-26 |
SMART |
CA
|
475 |
561 |
2.2e-26 |
SMART |
CA
|
592 |
673 |
6.4e-12 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
SMART Domains |
Protein: ENSMUSP00000141803 Gene: ENSMUSG00000103793
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
CA
|
45 |
131 |
2.41e-2 |
SMART |
CA
|
155 |
240 |
5.77e-16 |
SMART |
CA
|
264 |
345 |
1.1e-21 |
SMART |
CA
|
369 |
450 |
2.75e-22 |
SMART |
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
CA
|
474 |
560 |
9.22e-24 |
SMART |
CA
|
591 |
669 |
2.4e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,843,555 (GRCm39) |
T297A |
probably benign |
Het |
Acadl |
G |
T |
1: 66,892,337 (GRCm39) |
T162K |
probably benign |
Het |
Aldoart2 |
A |
T |
12: 55,612,536 (GRCm39) |
I154F |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,385,478 (GRCm39) |
R625H |
probably damaging |
Het |
Ankrd31 |
T |
A |
13: 96,969,036 (GRCm39) |
V891E |
probably benign |
Het |
Aopep |
G |
A |
13: 63,216,065 (GRCm39) |
V446I |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,356,982 (GRCm39) |
R577* |
probably null |
Het |
Capn3 |
G |
T |
2: 120,316,867 (GRCm39) |
E285D |
probably benign |
Het |
Cd79b |
G |
T |
11: 106,204,526 (GRCm39) |
P87T |
probably damaging |
Het |
Celsr2 |
T |
G |
3: 108,319,971 (GRCm39) |
D947A |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,569,783 (GRCm39) |
S1213R |
|
Het |
Cyp2j5 |
T |
C |
4: 96,552,241 (GRCm39) |
M3V |
probably benign |
Het |
Ddi1 |
C |
T |
9: 6,265,787 (GRCm39) |
R194K |
probably benign |
Het |
Decr1 |
T |
C |
4: 15,933,019 (GRCm39) |
K49R |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,905,575 (GRCm39) |
E4130A |
probably benign |
Het |
Dst |
A |
G |
1: 34,323,444 (GRCm39) |
D4648G |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,380,020 (GRCm39) |
|
probably null |
Het |
Erbin |
A |
T |
13: 103,970,864 (GRCm39) |
Y917* |
probably null |
Het |
Evpl |
T |
C |
11: 116,113,989 (GRCm39) |
K1234E |
probably benign |
Het |
F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
Fam43a |
C |
G |
16: 30,420,622 (GRCm39) |
T402S |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,457,064 (GRCm39) |
N2096S |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,196,962 (GRCm39) |
Y172* |
probably null |
Het |
Hscb |
A |
G |
5: 110,983,844 (GRCm39) |
V90A |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,794,387 (GRCm39) |
D1195G |
probably damaging |
Het |
Map2k2 |
T |
C |
10: 80,950,900 (GRCm39) |
I115T |
probably damaging |
Het |
Mast2 |
C |
T |
4: 116,170,172 (GRCm39) |
R707H |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,277,977 (GRCm39) |
N607S |
probably damaging |
Het |
Mrpl9 |
T |
A |
3: 94,351,050 (GRCm39) |
Y77N |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,570,347 (GRCm39) |
T724I |
unknown |
Het |
Nat3 |
A |
T |
8: 68,000,478 (GRCm39) |
Y119F |
possibly damaging |
Het |
Nol7 |
T |
C |
13: 43,554,990 (GRCm39) |
S208P |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,365,545 (GRCm39) |
C1056S |
probably damaging |
Het |
Nup50l |
TCC |
TCCGCC |
6: 96,142,078 (GRCm39) |
|
probably benign |
Het |
Nup50l |
TCC |
TCCCCC |
6: 96,142,084 (GRCm39) |
|
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,884 (GRCm39) |
V228E |
probably damaging |
Het |
Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
Or5al5 |
A |
T |
2: 85,961,721 (GRCm39) |
Y95* |
probably null |
Het |
Or8g17 |
G |
T |
9: 38,930,783 (GRCm39) |
T18K |
probably damaging |
Het |
Osbpl3 |
A |
C |
6: 50,322,995 (GRCm39) |
L288R |
probably damaging |
Het |
Oscp1 |
A |
C |
4: 125,982,116 (GRCm39) |
D352A |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,123,222 (GRCm39) |
R983C |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,174,030 (GRCm39) |
T490A |
|
Het |
Pkd1l1 |
A |
T |
11: 8,897,315 (GRCm39) |
D531E |
|
Het |
Potefam3d |
A |
T |
8: 69,975,404 (GRCm39) |
Y21N |
possibly damaging |
Het |
Prr3 |
G |
T |
17: 36,290,053 (GRCm39) |
D26E |
possibly damaging |
Het |
Psmd8 |
T |
C |
7: 28,880,001 (GRCm39) |
K24E |
probably benign |
Het |
Rasgrp4 |
G |
A |
7: 28,849,362 (GRCm39) |
C583Y |
probably damaging |
Het |
Rest |
A |
G |
5: 77,416,171 (GRCm39) |
I128M |
probably benign |
Het |
Rftn1 |
A |
T |
17: 50,393,607 (GRCm39) |
F144I |
probably damaging |
Het |
Rusc2 |
T |
C |
4: 43,421,851 (GRCm39) |
F757S |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,782,810 (GRCm39) |
S1942P |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
Sergef |
G |
T |
7: 46,264,062 (GRCm39) |
T275K |
probably damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,569 (GRCm39) |
T217A |
probably damaging |
Het |
Shd |
G |
C |
17: 56,283,235 (GRCm39) |
S288T |
probably damaging |
Het |
Siglec15 |
C |
A |
18: 78,091,803 (GRCm39) |
A133S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,118,932 (GRCm39) |
P325L |
probably damaging |
Het |
Syt8 |
G |
A |
7: 141,993,881 (GRCm39) |
G344D |
probably damaging |
Het |
Tes |
A |
G |
6: 17,097,291 (GRCm39) |
E133G |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,369,616 (GRCm39) |
Y386C |
probably damaging |
Het |
Tnfrsf11b |
A |
T |
15: 54,115,502 (GRCm39) |
L365Q |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,992,596 (GRCm39) |
D67V |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,021,280 (GRCm39) |
S982P |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,814,683 (GRCm39) |
F473I |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,542,257 (GRCm39) |
I232N |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,268,848 (GRCm39) |
S1977P |
probably benign |
Het |
Ttll11 |
T |
A |
2: 35,869,527 (GRCm39) |
E37V |
unknown |
Het |
Ttn |
A |
T |
2: 76,649,160 (GRCm39) |
V12716E |
possibly damaging |
Het |
Vmn2r70 |
A |
C |
7: 85,212,923 (GRCm39) |
S495A |
probably benign |
Het |
Zfp974 |
A |
G |
7: 27,610,697 (GRCm39) |
C343R |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
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 |
R7463:Pcdhgb8
|
UTSW |
18 |
37,896,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Pcdhgb8
|
UTSW |
18 |
37,897,002 (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'- GCTTCCATTGCTCAGGTCAG -3'
(R):5'- GGCATTGTGTCCAGAGTCTG -3'
Sequencing Primer
(F):5'- ATTTGGGATCCAATGGTTTCATCTC -3'
(R):5'- GTGTCCAGAGTCTGCATCCAC -3'
|
Posted On |
2020-01-23 |