Incidental Mutation 'R6868:Ppp1r12b'
| ID |
536000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12b
|
| Ensembl Gene |
ENSMUSG00000073557 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12B |
| Synonyms |
1810037O03Rik, 9530009M10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R6868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134814176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 376
(T376A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000168381]
|
| AlphaFold |
Q8BG95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045665
AA Change: T376A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: T376A
| 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: T376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: T376A
| 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: T376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: T376A
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,559 (GRCm39) |
N204I |
probably damaging |
Het |
| Aasdh |
C |
T |
5: 77,039,527 (GRCm39) |
V261M |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,839 (GRCm39) |
F126L |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,855 (GRCm39) |
L87P |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,088,748 (GRCm39) |
S554F |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,747,878 (GRCm39) |
S1205P |
possibly damaging |
Het |
| Bst2 |
A |
C |
8: 71,987,404 (GRCm39) |
V150G |
unknown |
Het |
| C3 |
T |
C |
17: 57,511,029 (GRCm39) |
Y1659C |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,870 (GRCm39) |
V174A |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,745,055 (GRCm39) |
N396K |
probably benign |
Het |
| Cfap144 |
C |
T |
11: 58,683,732 (GRCm39) |
D113N |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,501 (GRCm39) |
|
probably null |
Het |
| Cnih4 |
A |
G |
1: 180,993,762 (GRCm39) |
I76V |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,336,633 (GRCm39) |
V1404I |
probably benign |
Het |
| Ctrb1 |
T |
C |
8: 112,416,035 (GRCm39) |
D53G |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,833,109 (GRCm39) |
R1323L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,710 (GRCm39) |
V1230A |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,513 (GRCm39) |
D219G |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,823,676 (GRCm39) |
A1412E |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,631,140 (GRCm39) |
V292M |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,830,237 (GRCm39) |
V1509E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,226,146 (GRCm39) |
Q1839R |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,919,566 (GRCm39) |
D177G |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,409,732 (GRCm39) |
T235A |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,250,450 (GRCm39) |
M114K |
probably damaging |
Het |
| Ints5 |
T |
G |
19: 8,874,750 (GRCm39) |
L903R |
probably damaging |
Het |
| Lipo2 |
G |
T |
19: 33,725,862 (GRCm39) |
P130Q |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,587,591 (GRCm39) |
C494Y |
probably damaging |
Het |
| Milr1 |
T |
C |
11: 106,654,747 (GRCm39) |
Y162H |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,219,244 (GRCm39) |
I278N |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
| Myh15 |
G |
A |
16: 48,889,766 (GRCm39) |
C119Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,330,669 (GRCm39) |
G358D |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,027 (GRCm39) |
I2178V |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,060,268 (GRCm39) |
E21G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,848,332 (GRCm39) |
R967C |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,638,037 (GRCm39) |
D119G |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,127,306 (GRCm39) |
R44G |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,222 (GRCm39) |
H87R |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,003,036 (GRCm39) |
L524F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,111 (GRCm39) |
L449P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,320 (GRCm39) |
R198G |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,427,638 (GRCm39) |
A437E |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,604,864 (GRCm39) |
I60N |
probably benign |
Het |
| Pxmp2 |
C |
T |
5: 110,433,846 (GRCm39) |
R9Q |
probably damaging |
Het |
| Scarb2 |
T |
C |
5: 92,633,168 (GRCm39) |
K55E |
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,680,132 (GRCm39) |
V109A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,130 (GRCm39) |
D18E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,607 (GRCm39) |
R45G |
probably damaging |
Het |
| Tbxas1 |
A |
T |
6: 39,061,240 (GRCm39) |
Q513L |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,790,721 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
T |
A |
11: 117,665,143 (GRCm39) |
I377F |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,868,938 (GRCm39) |
I146V |
probably damaging |
Het |
| Trac |
T |
A |
14: 54,458,049 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,679,334 (GRCm39) |
D409G |
probably damaging |
Het |
| Usp39 |
A |
T |
6: 72,314,734 (GRCm39) |
V224E |
possibly damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,727 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,852,218 (GRCm39) |
I33L |
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 |
|
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'- TATGGCTGTGTCAGAACTGG -3'
(R):5'- ACTGTAGAAAAGCCAAGGTCC -3'
Sequencing Primer
(F):5'- CTGGCAGGTATATTTTAACTGAGCTC -3'
(R):5'- GCACACAGAGATAAGAAGGATCTTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation