Incidental Mutation 'R5056:Ppp1r12b'
ID |
390821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r12b
|
Ensembl Gene |
ENSMUSG00000073557 |
Gene Name |
protein phosphatase 1, regulatory subunit 12B |
Synonyms |
1810037O03Rik, 9530009M10Rik |
MMRRC Submission |
042646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R5056 (G1)
|
Quality Score |
152 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 134883471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 17
(A17E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000112163]
[ENSMUST00000168381]
|
AlphaFold |
Q8BG95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045665
AA Change: A17E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047463 Gene: ENSMUSG00000073557 AA Change: A17E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
ANK
|
56 |
86 |
8.36e1 |
SMART |
ANK
|
90 |
119 |
5.32e-5 |
SMART |
ANK
|
123 |
152 |
1.08e-5 |
SMART |
ANK
|
216 |
245 |
1.51e-4 |
SMART |
ANK
|
249 |
278 |
3.85e-2 |
SMART |
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086444
AA Change: A17E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000083633 Gene: ENSMUSG00000073557 AA Change: A17E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
ANK
|
56 |
86 |
8.36e1 |
SMART |
ANK
|
90 |
119 |
5.32e-5 |
SMART |
ANK
|
123 |
152 |
1.08e-5 |
SMART |
ANK
|
216 |
245 |
1.51e-4 |
SMART |
ANK
|
249 |
278 |
3.85e-2 |
SMART |
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112163
AA Change: A17E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107788 Gene: ENSMUSG00000073557 AA Change: A17E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
Pfam:Ank_5
|
45 |
97 |
1.3e-8 |
PFAM |
Pfam:Ank_3
|
59 |
86 |
9.2e-6 |
PFAM |
Pfam:Ank_4
|
60 |
97 |
6.2e-9 |
PFAM |
Pfam:Ank
|
63 |
89 |
1.4e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132025
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168381
AA Change: A17E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000131406 Gene: ENSMUSG00000073557 AA Change: A17E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
ANK
|
56 |
86 |
8.36e1 |
SMART |
ANK
|
90 |
119 |
5.32e-5 |
SMART |
ANK
|
123 |
152 |
1.08e-5 |
SMART |
ANK
|
216 |
245 |
1.51e-4 |
SMART |
ANK
|
249 |
278 |
3.85e-2 |
SMART |
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
coiled coil region
|
867 |
986 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.2%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
T |
A |
8: 117,698,421 (GRCm39) |
K229* |
probably null |
Het |
Adora2a |
T |
A |
10: 75,161,992 (GRCm39) |
S44T |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,682,860 (GRCm39) |
V459A |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,137,148 (GRCm39) |
V31A |
probably benign |
Het |
Asic2 |
T |
A |
11: 80,862,429 (GRCm39) |
K189N |
possibly damaging |
Het |
Bbs10 |
C |
T |
10: 111,136,401 (GRCm39) |
P505S |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,694,759 (GRCm39) |
I1578K |
probably benign |
Het |
Cdh20 |
G |
T |
1: 104,881,722 (GRCm39) |
V396L |
probably benign |
Het |
Cenpb |
C |
T |
2: 131,020,091 (GRCm39) |
|
probably benign |
Het |
Chil6 |
T |
A |
3: 106,301,659 (GRCm39) |
Y147F |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,552,772 (GRCm39) |
R606C |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,909,302 (GRCm39) |
T404A |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,467,636 (GRCm39) |
N1499S |
probably damaging |
Het |
Dmkn |
T |
C |
7: 30,463,529 (GRCm39) |
S61P |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,003,990 (GRCm39) |
C872R |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,620,169 (GRCm39) |
Y1587H |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,183,199 (GRCm39) |
V73D |
probably damaging |
Het |
F5 |
A |
T |
1: 164,019,601 (GRCm39) |
Y692F |
possibly damaging |
Het |
Fam184a |
A |
T |
10: 53,550,670 (GRCm39) |
L80I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,810,833 (GRCm39) |
H271R |
probably benign |
Het |
Grm7 |
A |
G |
6: 111,057,404 (GRCm39) |
T335A |
probably damaging |
Het |
Hspa9 |
A |
G |
18: 35,071,734 (GRCm39) |
L622P |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kcnd3 |
T |
A |
3: 105,574,244 (GRCm39) |
|
probably benign |
Het |
Klhdc8b |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
9: 108,326,184 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrch4 |
C |
G |
5: 137,635,113 (GRCm39) |
N237K |
probably damaging |
Het |
Lss |
T |
G |
10: 76,388,760 (GRCm39) |
|
probably null |
Het |
Map6 |
T |
C |
7: 98,985,859 (GRCm39) |
F588L |
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
Med13 |
A |
T |
11: 86,219,391 (GRCm39) |
S352T |
probably benign |
Het |
Mettl16 |
T |
A |
11: 74,707,766 (GRCm39) |
V320E |
probably benign |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Nup188 |
T |
A |
2: 30,194,143 (GRCm39) |
D149E |
probably damaging |
Het |
Ogfrl1 |
A |
G |
1: 23,418,130 (GRCm39) |
S83P |
probably damaging |
Het |
Or52l1 |
T |
A |
7: 104,829,779 (GRCm39) |
H262L |
probably damaging |
Het |
Or5m13 |
T |
A |
2: 85,748,480 (GRCm39) |
D70E |
probably damaging |
Het |
Or8k36-ps1 |
T |
A |
2: 86,437,364 (GRCm39) |
I184F |
unknown |
Het |
Or9m1 |
T |
C |
2: 87,733,915 (GRCm39) |
Y35C |
probably damaging |
Het |
Pafah1b3 |
C |
T |
7: 24,994,764 (GRCm39) |
R98Q |
probably damaging |
Het |
Pde6b |
A |
T |
5: 108,571,357 (GRCm39) |
K437* |
probably null |
Het |
Pramel34 |
T |
C |
5: 93,786,784 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,782,679 (GRCm39) |
Q104R |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,050,391 (GRCm39) |
|
probably null |
Het |
Rnf14 |
C |
T |
18: 38,441,441 (GRCm39) |
P277L |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,316,102 (GRCm39) |
S258P |
probably benign |
Het |
Sfrp1 |
T |
A |
8: 23,907,420 (GRCm39) |
F207I |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,137,087 (GRCm39) |
S160P |
probably damaging |
Het |
Sil1 |
T |
C |
18: 35,402,755 (GRCm39) |
K263R |
probably benign |
Het |
St14 |
A |
G |
9: 31,008,847 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 75,955,905 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,995,835 (GRCm39) |
S1013P |
probably benign |
Het |
Tent5b |
C |
T |
4: 133,207,749 (GRCm39) |
R47W |
possibly damaging |
Het |
Tmem67 |
T |
C |
4: 12,070,471 (GRCm39) |
S352G |
probably benign |
Het |
Trib2 |
C |
A |
12: 15,843,795 (GRCm39) |
K282N |
possibly damaging |
Het |
Trnau1ap |
T |
C |
4: 132,054,482 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,992,762 (GRCm39) |
N305D |
possibly damaging |
Het |
Usp32 |
A |
G |
11: 84,917,621 (GRCm39) |
V802A |
probably benign |
Het |
Vmn2r48 |
T |
A |
7: 9,676,251 (GRCm39) |
H410L |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,132,931 (GRCm39) |
N116S |
probably benign |
Het |
Wif1 |
A |
T |
10: 120,935,684 (GRCm39) |
H333L |
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,928,162 (GRCm39) |
T416A |
possibly damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,444 (GRCm39) |
C558S |
probably damaging |
Het |
Zpbp |
T |
C |
11: 11,409,734 (GRCm39) |
D116G |
possibly damaging |
Het |
|
Other mutations in Ppp1r12b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01358:Ppp1r12b
|
APN |
1 |
134,819,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01788:Ppp1r12b
|
APN |
1 |
134,821,245 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01880:Ppp1r12b
|
APN |
1 |
134,814,159 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02109:Ppp1r12b
|
APN |
1 |
134,800,543 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02247:Ppp1r12b
|
APN |
1 |
134,763,721 (GRCm39) |
missense |
probably benign |
|
IGL02336:Ppp1r12b
|
APN |
1 |
134,814,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02903:Ppp1r12b
|
APN |
1 |
134,883,387 (GRCm39) |
missense |
probably benign |
|
IGL02963:Ppp1r12b
|
APN |
1 |
134,814,286 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03074:Ppp1r12b
|
APN |
1 |
134,763,758 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03302:Ppp1r12b
|
APN |
1 |
134,765,788 (GRCm39) |
splice site |
probably benign |
|
R0102:Ppp1r12b
|
UTSW |
1 |
134,763,637 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0102:Ppp1r12b
|
UTSW |
1 |
134,763,637 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0189:Ppp1r12b
|
UTSW |
1 |
134,793,514 (GRCm39) |
critical splice donor site |
probably null |
|
R0556:Ppp1r12b
|
UTSW |
1 |
134,705,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Ppp1r12b
|
UTSW |
1 |
134,704,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0690:Ppp1r12b
|
UTSW |
1 |
134,803,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R1354:Ppp1r12b
|
UTSW |
1 |
134,763,721 (GRCm39) |
missense |
probably benign |
0.42 |
R1676:Ppp1r12b
|
UTSW |
1 |
134,705,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Ppp1r12b
|
UTSW |
1 |
134,821,086 (GRCm39) |
critical splice donor site |
probably null |
|
R1839:Ppp1r12b
|
UTSW |
1 |
134,765,719 (GRCm39) |
missense |
probably benign |
0.32 |
R1946:Ppp1r12b
|
UTSW |
1 |
134,820,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Ppp1r12b
|
UTSW |
1 |
134,793,651 (GRCm39) |
missense |
probably benign |
0.00 |
R1997:Ppp1r12b
|
UTSW |
1 |
134,774,093 (GRCm39) |
intron |
probably benign |
|
R3110:Ppp1r12b
|
UTSW |
1 |
134,800,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Ppp1r12b
|
UTSW |
1 |
134,800,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R3908:Ppp1r12b
|
UTSW |
1 |
134,770,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R3912:Ppp1r12b
|
UTSW |
1 |
134,815,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Ppp1r12b
|
UTSW |
1 |
134,693,713 (GRCm39) |
missense |
probably benign |
0.00 |
R4243:Ppp1r12b
|
UTSW |
1 |
134,709,846 (GRCm39) |
intron |
probably benign |
|
R4835:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R4836:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R4843:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R4854:Ppp1r12b
|
UTSW |
1 |
134,801,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Ppp1r12b
|
UTSW |
1 |
134,876,771 (GRCm39) |
missense |
probably benign |
0.00 |
R4881:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R5024:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R5054:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R5055:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
R5056:Ppp1r12b
|
UTSW |
1 |
134,762,130 (GRCm39) |
intron |
probably benign |
|
R5158:Ppp1r12b
|
UTSW |
1 |
134,814,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R5599:Ppp1r12b
|
UTSW |
1 |
134,793,645 (GRCm39) |
missense |
probably benign |
0.08 |
R5771:Ppp1r12b
|
UTSW |
1 |
134,701,162 (GRCm39) |
critical splice donor site |
probably null |
|
R5775:Ppp1r12b
|
UTSW |
1 |
134,803,780 (GRCm39) |
missense |
probably benign |
|
R5872:Ppp1r12b
|
UTSW |
1 |
134,704,144 (GRCm39) |
missense |
probably benign |
0.03 |
R5896:Ppp1r12b
|
UTSW |
1 |
134,693,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6060:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
R6129:Ppp1r12b
|
UTSW |
1 |
134,819,990 (GRCm39) |
nonsense |
probably null |
|
R6369:Ppp1r12b
|
UTSW |
1 |
134,814,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6868:Ppp1r12b
|
UTSW |
1 |
134,814,176 (GRCm39) |
missense |
probably benign |
0.00 |
R7681:Ppp1r12b
|
UTSW |
1 |
134,793,673 (GRCm39) |
missense |
probably benign |
0.02 |
R7940:Ppp1r12b
|
UTSW |
1 |
134,803,793 (GRCm39) |
missense |
probably benign |
0.00 |
R8057:Ppp1r12b
|
UTSW |
1 |
134,883,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Ppp1r12b
|
UTSW |
1 |
134,803,807 (GRCm39) |
missense |
probably benign |
0.06 |
R8134:Ppp1r12b
|
UTSW |
1 |
134,814,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8147:Ppp1r12b
|
UTSW |
1 |
134,801,680 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8224:Ppp1r12b
|
UTSW |
1 |
134,830,200 (GRCm39) |
missense |
probably benign |
0.19 |
R8270:Ppp1r12b
|
UTSW |
1 |
134,803,886 (GRCm39) |
missense |
probably benign |
0.37 |
R8304:Ppp1r12b
|
UTSW |
1 |
134,824,101 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8803:Ppp1r12b
|
UTSW |
1 |
134,818,492 (GRCm39) |
critical splice donor site |
probably benign |
|
R8826:Ppp1r12b
|
UTSW |
1 |
134,693,730 (GRCm39) |
missense |
probably benign |
0.18 |
R8954:Ppp1r12b
|
UTSW |
1 |
134,762,200 (GRCm39) |
missense |
probably benign |
0.00 |
R9081:Ppp1r12b
|
UTSW |
1 |
134,705,085 (GRCm39) |
missense |
probably benign |
0.18 |
R9171:Ppp1r12b
|
UTSW |
1 |
134,801,725 (GRCm39) |
missense |
probably benign |
0.01 |
R9223:Ppp1r12b
|
UTSW |
1 |
134,807,376 (GRCm39) |
missense |
probably benign |
0.00 |
R9521:Ppp1r12b
|
UTSW |
1 |
134,705,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R9609:Ppp1r12b
|
UTSW |
1 |
134,824,084 (GRCm39) |
nonsense |
probably null |
|
X0022:Ppp1r12b
|
UTSW |
1 |
134,763,611 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Ppp1r12b
|
UTSW |
1 |
134,824,092 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1187:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
Z1189:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
Z1190:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
Z1192:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGATGTCCGCACCTCTTG -3'
(R):5'- AGGTCTCCTACTACAAGTCCCG -3'
Sequencing Primer
(F):5'- GCACCTCTTGCCAGAAGC -3'
(R):5'- CGTGCGTGCTGAAGCTAAG -3'
|
Posted On |
2016-06-06 |