Incidental Mutation 'R7922:Pcdhgb8'
| ID |
648495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb8
|
| Ensembl Gene |
ENSMUSG00000103081 |
| Gene Name |
protocadherin gamma subfamily B, 8 |
| Synonyms |
|
| MMRRC Submission |
045969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R7922 (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 37897002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 691
(F691L)
|
| 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: F691L
| 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: ENSMUST00000208907
AA Change: F691L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,211,180 (GRCm39) |
T638M |
possibly damaging |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,067 (GRCm39) |
|
probably null |
Het |
| Abi3 |
A |
T |
11: 95,723,619 (GRCm39) |
Y342N |
unknown |
Het |
| Adk |
G |
A |
14: 21,368,111 (GRCm39) |
V195I |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,998,375 (GRCm39) |
V268M |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,835,615 (GRCm39) |
I1077V |
probably benign |
Het |
| Arap1 |
A |
T |
7: 101,053,621 (GRCm39) |
K1317* |
probably null |
Het |
| Auts2 |
T |
A |
5: 131,469,211 (GRCm39) |
D493V |
|
Het |
| Baz1b |
A |
T |
5: 135,260,533 (GRCm39) |
Q1110L |
probably damaging |
Het |
| Brsk2 |
T |
A |
7: 141,546,957 (GRCm39) |
S467T |
possibly damaging |
Het |
| Btbd9 |
A |
T |
17: 30,493,858 (GRCm39) |
M511K |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,218,485 (GRCm39) |
Y1385F |
probably benign |
Het |
| Cfap100 |
A |
C |
6: 90,380,962 (GRCm39) |
L427V |
unknown |
Het |
| Cnga1 |
A |
G |
5: 72,762,225 (GRCm39) |
F430L |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,562 (GRCm39) |
L254F |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,317,721 (GRCm39) |
D472V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,598,154 (GRCm39) |
E339V |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,764,280 (GRCm39) |
V379E |
probably damaging |
Het |
| Erich4 |
T |
A |
7: 25,315,168 (GRCm39) |
N36Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,725 (GRCm39) |
T1261A |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,503 (GRCm39) |
D223V |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,165,315 (GRCm39) |
Y218* |
probably null |
Het |
| Gcn1 |
G |
T |
5: 115,752,527 (GRCm39) |
M2177I |
probably benign |
Het |
| Ghr |
G |
A |
15: 3,370,556 (GRCm39) |
T103I |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,387,857 (GRCm39) |
V79A |
probably benign |
Het |
| Gm13272 |
T |
A |
4: 88,698,577 (GRCm39) |
V164D |
probably damaging |
Het |
| Gramd4 |
C |
A |
15: 86,016,159 (GRCm39) |
H503Q |
probably benign |
Het |
| Gstm4 |
A |
T |
3: 107,951,987 (GRCm39) |
M1K |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,067,988 (GRCm39) |
Q1800L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,836,978 (GRCm39) |
K826* |
probably null |
Het |
| Hoxa9 |
T |
C |
6: 52,201,289 (GRCm39) |
I251V |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,679,177 (GRCm39) |
I46F |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,453 (GRCm39) |
R320S |
probably benign |
Het |
| Iscu |
A |
T |
5: 113,912,343 (GRCm39) |
N46I |
probably damaging |
Het |
| Iscu |
G |
A |
5: 113,912,410 (GRCm39) |
R60Q |
unknown |
Het |
| Kcnk3 |
A |
T |
5: 30,745,875 (GRCm39) |
H72L |
probably damaging |
Het |
| Kmt2a |
T |
G |
9: 44,754,157 (GRCm39) |
S1228R |
unknown |
Het |
| Mbl2 |
T |
A |
19: 30,216,638 (GRCm39) |
L150Q |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,161,831 (GRCm39) |
F2166Y |
probably damaging |
Het |
| Mterf4 |
A |
C |
1: 93,229,275 (GRCm39) |
L246* |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,496,121 (GRCm39) |
Q6690R |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,699,719 (GRCm39) |
L1722Q |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,454 (GRCm39) |
M237V |
probably benign |
Het |
| Olfml1 |
A |
G |
7: 107,170,356 (GRCm39) |
Y81C |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,872 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,226 (GRCm39) |
N411I |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,990,517 (GRCm39) |
V481A |
probably damaging |
Het |
| Pik3r6 |
A |
T |
11: 68,424,701 (GRCm39) |
R435S |
probably benign |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,013 (GRCm39) |
H2250Y |
|
Het |
| Pkd1l1 |
A |
G |
11: 8,859,857 (GRCm39) |
S1034P |
|
Het |
| Plcd1 |
C |
A |
9: 118,903,720 (GRCm39) |
R400L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,174,879 (GRCm39) |
T58A |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,725 (GRCm39) |
E5G |
possibly damaging |
Het |
| Pradc1 |
A |
C |
6: 85,424,950 (GRCm39) |
F82L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,416 (GRCm39) |
S416R |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,117 (GRCm39) |
C390R |
probably benign |
Het |
| Rhot1 |
A |
G |
11: 80,156,629 (GRCm39) |
T655A |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,298,495 (GRCm39) |
I348V |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,796,649 (GRCm39) |
V1051E |
probably benign |
Het |
| Sema5b |
GCAC |
GC |
16: 35,478,626 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
A |
1: 107,199,744 (GRCm39) |
T259I |
probably damaging |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,438 (GRCm39) |
M70K |
probably damaging |
Het |
| Sinhcaf |
T |
A |
6: 148,827,644 (GRCm39) |
T125S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,391,230 (GRCm39) |
V607I |
probably benign |
Het |
| Spop |
A |
T |
11: 95,362,154 (GRCm39) |
N62Y |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,066,823 (GRCm39) |
F130S |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,043,066 (GRCm39) |
H420R |
possibly damaging |
Het |
| Tecpr2 |
CA |
C |
12: 110,899,076 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
C |
17: 34,933,577 (GRCm39) |
K2332N |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,512 (GRCm39) |
Y588H |
probably damaging |
Het |
| Trim71 |
G |
A |
9: 114,342,153 (GRCm39) |
R710C |
probably damaging |
Het |
| Tsen54 |
C |
T |
11: 115,711,608 (GRCm39) |
Q342* |
probably null |
Het |
| Ube2r2 |
T |
A |
4: 41,190,812 (GRCm39) |
N235K |
unknown |
Het |
| Utrn |
C |
A |
10: 12,543,271 (GRCm39) |
K1792N |
possibly damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,587 (GRCm39) |
I156T |
possibly damaging |
Het |
| Vmn1r94 |
T |
C |
7: 19,901,636 (GRCm39) |
T223A |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,683 (GRCm39) |
R369W |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,409 (GRCm39) |
A717S |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,159,647 (GRCm39) |
C398S |
unknown |
Het |
| Zc3hc1 |
T |
A |
6: 30,390,874 (GRCm39) |
E43V |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,600,511 (GRCm39) |
V415D |
possibly damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,768 (GRCm39) |
H441R |
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 |
|
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 |
|
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'- TATCTTACCACGTGCTGCAGG -3'
(R):5'- CCCTCGCCTTAGTTGAGAGAAAC -3'
Sequencing Primer
(F):5'- TCTTCAGCCTGGGACTGC -3'
(R):5'- CGCCTTAGTTGAGAGAAACCTCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation