Incidental Mutation 'R0556:Ppp1r12b'
| ID |
45535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12b
|
| Ensembl Gene |
ENSMUSG00000073557 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12B |
| Synonyms |
1810037O03Rik, 9530009M10Rik |
| MMRRC Submission |
038748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R0556 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134705060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 876
(Y876F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000168381]
|
| AlphaFold |
Q8BG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045665
AA Change: Y876F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: Y876F
| 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: Y876F
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: Y876F
| 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: ENSMUST00000141419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156348
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168381
AA Change: Y876F
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: Y876F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191540
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
| 4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
| Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,927,970 (GRCm39) |
I37S |
probably damaging |
Het |
| Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
| Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
| Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
| Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
| Garre1 |
T |
C |
7: 33,939,222 (GRCm39) |
T222A |
probably damaging |
Het |
| Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
| Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,155,983 (GRCm39) |
I983T |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
| Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
T |
17: 33,356,812 (GRCm39) |
M320K |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
| Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
| Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
| Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
| Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
| Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
| Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,716 (GRCm39) |
N340S |
probably damaging |
Het |
| Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
| Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
| Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
| Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
| Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
| Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCAAAGACCAGAGAGCAAGAGC -3'
(R):5'- TCAAGGAAGGCAAGTTTCTGACCAG -3'
Sequencing Primer
(F):5'- AACAATGTACACGTCGTCTTTCG -3'
(R):5'- ctctctctctctctctctctcc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation