Incidental Mutation 'R8134:Ppp1r12b'
| ID |
632146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12b
|
| Ensembl Gene |
ENSMUSG00000073557 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12B |
| Synonyms |
1810037O03Rik, 9530009M10Rik |
| MMRRC Submission |
067562-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R8134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134814280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 341
(E341G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000168381]
|
| AlphaFold |
Q8BG95 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045665
AA Change: E341G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: E341G
| 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 |
possibly damaging
Transcript: ENSMUST00000086444
AA Change: E341G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: E341G
| 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 |
possibly damaging
Transcript: ENSMUST00000168381
AA Change: E341G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: E341G
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.5%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,425,982 (GRCm39) |
P265L |
probably benign |
Het |
| Adam20 |
A |
G |
8: 41,249,101 (GRCm39) |
T404A |
probably benign |
Het |
| Anp32a |
G |
T |
9: 62,284,863 (GRCm39) |
R237L |
unknown |
Het |
| Ascc3 |
A |
G |
10: 50,643,554 (GRCm39) |
D1835G |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,590,220 (GRCm39) |
|
probably null |
Het |
| Bard1 |
A |
T |
1: 71,106,297 (GRCm39) |
N443K |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,647 (GRCm39) |
D476G |
possibly damaging |
Het |
| C2cd3 |
A |
T |
7: 100,067,711 (GRCm39) |
I487F |
|
Het |
| Cadm4 |
A |
G |
7: 24,203,030 (GRCm39) |
E384G |
possibly damaging |
Het |
| Camsap3 |
A |
G |
8: 3,648,075 (GRCm39) |
K128E |
probably benign |
Het |
| Casz1 |
C |
T |
4: 149,027,492 (GRCm39) |
P1005S |
probably damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,714,378 (GRCm39) |
V2667D |
unknown |
Het |
| Col11a1 |
A |
G |
3: 114,012,435 (GRCm39) |
K1792E |
unknown |
Het |
| Cpne9 |
A |
T |
6: 113,272,003 (GRCm39) |
D377V |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,982,550 (GRCm39) |
C2706S |
probably damaging |
Het |
| Ctnnbl1 |
T |
C |
2: 157,651,391 (GRCm39) |
V222A |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,227,452 (GRCm39) |
S277P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,734,884 (GRCm39) |
T158I |
probably benign |
Het |
| Hoxa4 |
G |
T |
6: 52,167,537 (GRCm39) |
H215N |
possibly damaging |
Het |
| Hpd |
G |
T |
5: 123,312,443 (GRCm39) |
Q309K |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,626,452 (GRCm39) |
T159A |
probably damaging |
Het |
| Ints10 |
T |
A |
8: 69,255,638 (GRCm39) |
Y209* |
probably null |
Het |
| Ints2 |
A |
G |
11: 86,103,486 (GRCm39) |
I1190T |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,872,188 (GRCm39) |
V107A |
probably null |
Het |
| Kdm4d |
C |
T |
9: 14,374,532 (GRCm39) |
R442H |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,413,756 (GRCm39) |
Y134C |
probably benign |
Het |
| Klb |
A |
T |
5: 65,540,958 (GRCm39) |
H1017L |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,481,285 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,047 (GRCm39) |
I423M |
probably damaging |
Het |
| Magi2 |
T |
G |
5: 20,596,365 (GRCm39) |
F274L |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,596,392 (GRCm39) |
D283E |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,697,369 (GRCm39) |
M388I |
probably benign |
Het |
| Ms4a3 |
G |
C |
19: 11,615,613 (GRCm39) |
H54Q |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,585 (GRCm39) |
M548K |
possibly damaging |
Het |
| Ninl |
C |
T |
2: 150,792,234 (GRCm39) |
C763Y |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,834 (GRCm39) |
F1522L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,680 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or2bd2 |
T |
C |
7: 6,441,922 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
A |
18: 37,939,916 (GRCm39) |
V106I |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,863,552 (GRCm39) |
V152A |
unknown |
Het |
| Pira1 |
A |
G |
7: 3,738,838 (GRCm39) |
S590P |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,057 (GRCm39) |
D118V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,097,443 (GRCm39) |
D203G |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,672,888 (GRCm39) |
M474K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,615,645 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,592 (GRCm39) |
N324S |
probably damaging |
Het |
| Spaca1 |
T |
A |
4: 34,042,157 (GRCm39) |
|
probably null |
Het |
| Sun3 |
G |
T |
11: 8,979,346 (GRCm39) |
D118E |
probably benign |
Het |
| Svop |
C |
T |
5: 114,180,992 (GRCm39) |
V215I |
probably benign |
Het |
| Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,064 (GRCm39) |
I1328N |
probably damaging |
Het |
| Tuba8 |
T |
A |
6: 121,198,381 (GRCm39) |
D116E |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,949,200 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,462,797 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,631,718 (GRCm39) |
I2639T |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp94 |
A |
T |
7: 24,003,166 (GRCm39) |
V92E |
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 |
|
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'- TTTCTGGAACCCTGAGAGGC -3'
(R):5'- CCTTGAGTCATGCTGTAAAGTC -3'
Sequencing Primer
(F):5'- CTGAGAGGCAGGCCACATG -3'
(R):5'- CCTTAGACTGTAGAAAAGCCAAGGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation