Incidental Mutation 'R9081:Ppp1r12b'
ID |
689993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r12b
|
Ensembl Gene |
ENSMUSG00000073557 |
Gene Name |
protein phosphatase 1, regulatory subunit 12B |
Synonyms |
1810037O03Rik, 9530009M10Rik |
MMRRC Submission |
068900-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.265)
|
Stock # |
R9081 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 134705085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 868
(V868I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000168381]
|
AlphaFold |
Q8BG95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045665
AA Change: V868I
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047463 Gene: ENSMUSG00000073557 AA Change: V868I
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: V868I
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000083633 Gene: ENSMUSG00000073557 AA Change: V868I
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: ENSMUST00000168381
AA Change: V868I
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131406 Gene: ENSMUSG00000073557 AA Change: V868I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,502 (GRCm39) |
V271E |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,109,162 (GRCm39) |
|
probably null |
Het |
Abcb11 |
C |
T |
2: 69,122,388 (GRCm39) |
C365Y |
possibly damaging |
Het |
Abcd2 |
A |
T |
15: 91,075,772 (GRCm39) |
W14R |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,468 (GRCm39) |
D250G |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,985,890 (GRCm39) |
D2391E |
possibly damaging |
Het |
Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
Cbr1 |
G |
T |
16: 93,406,994 (GRCm39) |
G237* |
probably null |
Het |
Cdr2l |
T |
A |
11: 115,284,939 (GRCm39) |
V425E |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,704,144 (GRCm39) |
K693* |
probably null |
Het |
Clgn |
T |
G |
8: 84,153,169 (GRCm39) |
D590E |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,291,387 (GRCm39) |
S952T |
unknown |
Het |
Crip3 |
T |
C |
17: 46,740,959 (GRCm39) |
L90P |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,403,636 (GRCm39) |
S2969P |
probably benign |
Het |
Dnai2 |
T |
A |
11: 114,629,493 (GRCm39) |
D173E |
probably damaging |
Het |
Dnpep |
A |
T |
1: 75,291,060 (GRCm39) |
F257Y |
probably damaging |
Het |
Egln2 |
A |
G |
7: 26,864,286 (GRCm39) |
V213A |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,504,415 (GRCm39) |
I106T |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,963,571 (GRCm39) |
F379L |
probably benign |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fpgs |
A |
T |
2: 32,577,500 (GRCm39) |
|
probably benign |
Het |
Garnl3 |
T |
G |
2: 32,896,920 (GRCm39) |
D573A |
possibly damaging |
Het |
Gja8 |
A |
G |
3: 96,826,676 (GRCm39) |
S329P |
probably damaging |
Het |
Gzf1 |
T |
A |
2: 148,525,317 (GRCm39) |
|
probably benign |
Het |
Hgs |
T |
A |
11: 120,366,076 (GRCm39) |
|
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,757,048 (GRCm39) |
I245T |
unknown |
Het |
Ighv1-74 |
C |
A |
12: 115,766,454 (GRCm39) |
W55C |
probably damaging |
Het |
Iqcb1 |
A |
G |
16: 36,656,006 (GRCm39) |
K131R |
probably null |
Het |
Kit |
A |
T |
5: 75,801,218 (GRCm39) |
M539L |
probably benign |
Het |
Klk1 |
A |
G |
7: 43,874,952 (GRCm39) |
|
probably benign |
Het |
Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
Lama5 |
A |
T |
2: 179,833,930 (GRCm39) |
C1473* |
probably null |
Het |
Loxl3 |
T |
C |
6: 83,025,638 (GRCm39) |
V332A |
possibly damaging |
Het |
Mcf2l |
T |
A |
8: 13,068,697 (GRCm39) |
Y1120N |
probably damaging |
Het |
Meioc |
G |
A |
11: 102,565,001 (GRCm39) |
V150M |
probably benign |
Het |
Mybpc1 |
T |
G |
10: 88,389,168 (GRCm39) |
Y400S |
probably damaging |
Het |
Ncmap |
T |
C |
4: 135,104,292 (GRCm39) |
|
probably benign |
Het |
Noc2l |
A |
G |
4: 156,326,224 (GRCm39) |
Y437C |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,814,881 (GRCm39) |
M330L |
probably benign |
Het |
Or10d4c |
A |
T |
9: 39,558,196 (GRCm39) |
Y58F |
probably damaging |
Het |
Or5b113 |
C |
T |
19: 13,342,019 (GRCm39) |
T9I |
probably benign |
Het |
P4ha1 |
T |
C |
10: 59,184,185 (GRCm39) |
Y216H |
probably damaging |
Het |
Pamr1 |
A |
T |
2: 102,441,933 (GRCm39) |
D174V |
probably damaging |
Het |
Pdcd1 |
C |
T |
1: 93,968,880 (GRCm39) |
|
probably null |
Het |
Plec |
A |
G |
15: 76,059,908 (GRCm39) |
V3343A |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,723,406 (GRCm39) |
I266F |
probably benign |
Het |
Poglut2 |
T |
A |
1: 44,153,966 (GRCm39) |
Q161L |
probably benign |
Het |
Ppp2r2b |
A |
T |
18: 42,781,825 (GRCm39) |
H325Q |
probably benign |
Het |
Rif1 |
C |
T |
2: 52,000,989 (GRCm39) |
T1481I |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,357,062 (GRCm39) |
D4204V |
|
Het |
Rps6kl1 |
T |
C |
12: 85,185,881 (GRCm39) |
N409S |
probably damaging |
Het |
Rundc1 |
T |
G |
11: 101,316,053 (GRCm39) |
W42G |
probably damaging |
Het |
Sec1 |
C |
T |
7: 45,333,987 (GRCm39) |
|
probably benign |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Shc2 |
T |
C |
10: 79,462,762 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
T |
C |
10: 76,877,750 (GRCm39) |
V95A |
possibly damaging |
Het |
Slc22a5 |
A |
T |
11: 53,762,447 (GRCm39) |
D333E |
probably damaging |
Het |
Specc1 |
A |
C |
11: 62,010,051 (GRCm39) |
R522S |
possibly damaging |
Het |
Syne2 |
C |
T |
12: 76,016,290 (GRCm39) |
Q3291* |
probably null |
Het |
Taar7e |
G |
A |
10: 23,913,893 (GRCm39) |
V128I |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,743,717 (GRCm39) |
N555S |
probably benign |
Het |
Themis |
C |
T |
10: 28,544,582 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
G |
7: 64,964,010 (GRCm39) |
V945A |
possibly damaging |
Het |
Tom1 |
G |
A |
8: 75,778,151 (GRCm39) |
V78I |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,935,542 (GRCm39) |
T323A |
probably benign |
Het |
Usp49 |
T |
C |
17: 47,984,236 (GRCm39) |
S414P |
possibly damaging |
Het |
Vmn1r104 |
G |
A |
7: 20,268,378 (GRCm39) |
S206N |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,940,125 (GRCm39) |
V446E |
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,782,331 (GRCm39) |
K222R |
probably benign |
Het |
Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
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 |
134,883,471 (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 |
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'- CAATGTACACGTCGTCTTTCG -3'
(R):5'- AAAAGGCACAGACTAGCCTTATGG -3'
Sequencing Primer
(F):5'- CGTCTTTCGTGGGCAGAGC -3'
(R):5'- GCACAGACTAGCCTTATGGTCTCG -3'
|
Posted On |
2021-11-19 |