Incidental Mutation 'IGL02336:Ppp1r12b'
| ID |
288844 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134814244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 353
(E353V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000168381]
|
| AlphaFold |
Q8BG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045665
AA Change: E353V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: E353V
| 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 damaging
Transcript: ENSMUST00000086444
AA Change: E353V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: E353V
| 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 |
noncoding transcript
Transcript: ENSMUST00000132025
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168381
AA Change: E353V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: E353V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
G |
2: 93,696,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,331 (GRCm39) |
M1196K |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,718,024 (GRCm39) |
C345* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,078 (GRCm39) |
E249G |
probably benign |
Het |
| Amdhd1 |
T |
A |
10: 93,360,291 (GRCm39) |
I423F |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,727,867 (GRCm39) |
N501S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,179,858 (GRCm39) |
V2127A |
probably damaging |
Het |
| Cd180 |
T |
A |
13: 102,841,821 (GRCm39) |
I289N |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,949 (GRCm39) |
I224F |
probably damaging |
Het |
| Cox6a2 |
A |
G |
7: 127,805,103 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,471,483 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
G |
A |
5: 27,674,409 (GRCm39) |
E179K |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,704,562 (GRCm39) |
T1341I |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,404,620 (GRCm39) |
T457I |
probably benign |
Het |
| Filip1l |
A |
T |
16: 57,392,096 (GRCm39) |
|
probably null |
Het |
| Gje1 |
A |
T |
10: 14,592,413 (GRCm39) |
I123N |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,894,874 (GRCm39) |
T683A |
probably damaging |
Het |
| Gm29326 |
C |
A |
7: 29,260,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5460 |
A |
G |
14: 33,765,909 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,200 (GRCm39) |
S739N |
probably benign |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,885 (GRCm39) |
I67F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,402,041 (GRCm39) |
V408A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,198 (GRCm39) |
W250R |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,078,565 (GRCm39) |
I360T |
possibly damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,992 (GRCm39) |
N916S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,384,184 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,474 (GRCm39) |
T69S |
probably benign |
Het |
| Nlk |
C |
A |
11: 78,477,763 (GRCm39) |
V327F |
probably damaging |
Het |
| Nme5 |
A |
T |
18: 34,711,730 (GRCm39) |
S4T |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,045,711 (GRCm39) |
I1625M |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,088,859 (GRCm39) |
|
probably null |
Het |
| Oas1d |
A |
G |
5: 121,057,111 (GRCm39) |
E239G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,761 (GRCm39) |
S110P |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,772 (GRCm39) |
M61V |
probably benign |
Het |
| Parn |
T |
A |
16: 13,384,567 (GRCm39) |
I499F |
probably damaging |
Het |
| Ppargc1a |
G |
A |
5: 51,653,068 (GRCm39) |
Q165* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,603,842 (GRCm39) |
Q2952R |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,603,843 (GRCm39) |
Q2952H |
probably benign |
Het |
| Qars1 |
G |
T |
9: 108,392,185 (GRCm39) |
E143* |
probably null |
Het |
| Reln |
A |
G |
5: 22,134,132 (GRCm39) |
Y2599H |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,939,041 (GRCm39) |
E803G |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,436,405 (GRCm39) |
Q8* |
probably null |
Het |
| Rnf167 |
A |
G |
11: 70,540,952 (GRCm39) |
I193V |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,694,622 (GRCm39) |
M137K |
probably benign |
Het |
| Rtf1 |
T |
G |
2: 119,559,226 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,731,055 (GRCm39) |
R308* |
probably null |
Het |
| Smg7 |
T |
C |
1: 152,719,030 (GRCm39) |
Y899C |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,635,336 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Tcf19 |
A |
T |
17: 35,825,380 (GRCm39) |
|
probably null |
Het |
| Timm44 |
T |
A |
8: 4,317,692 (GRCm39) |
R210W |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,041,331 (GRCm39) |
E194* |
probably null |
Het |
| Trp63 |
G |
A |
16: 25,639,192 (GRCm39) |
G127S |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,735,200 (GRCm39) |
A989V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,600,326 (GRCm39) |
D18988G |
probably damaging |
Het |
| Tubb4b-ps1 |
T |
A |
5: 7,229,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,181 (GRCm39) |
Y97C |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,224 (GRCm39) |
C370Y |
probably damaging |
Het |
| Xntrpc |
C |
A |
7: 101,733,492 (GRCm39) |
A147D |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,159,702 (GRCm39) |
S424F |
unknown |
Het |
| Zcwpw1 |
T |
A |
5: 137,808,376 (GRCm39) |
S275T |
probably damaging |
Het |
| Zfp979 |
C |
T |
4: 147,699,808 (GRCm39) |
C44Y |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,587 (GRCm39) |
H968R |
probably damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,297 (GRCm39) |
V259A |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,133,696 (GRCm39) |
D251E |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation