Incidental Mutation 'R4192:Pcdhgb8'
| ID |
318375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb8
|
| Ensembl Gene |
ENSMUSG00000103081 |
| Gene Name |
protocadherin gamma subfamily B, 8 |
| Synonyms |
|
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37894854-37973542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 37896594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 555
(D555H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194928]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000195764]
[ENSMUST00000208907]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000195363]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193045
|
| 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: 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: 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: 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: 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: 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: 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 damaging
Transcript: ENSMUST00000195764
AA Change: D555H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: D555H
| 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: D555H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
probably 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 |
|
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 |
|
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'- CTTCCATTGCTCAGGTCAGC -3'
(R):5'- GCAGCACGTGGTAAGATAGC -3'
Sequencing Primer
(F):5'- GGGATCCAATGGTTTCATCTCC -3'
(R):5'- TAAGATAGCCAGGCATTGTGTCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation