Incidental Mutation 'R8304:Ppp1r12b'
| ID |
639364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12b
|
| Ensembl Gene |
ENSMUSG00000073557 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12B |
| Synonyms |
1810037O03Rik, 9530009M10Rik |
| MMRRC Submission |
067791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R8304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134824101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 174
(L174Q)
|
| 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: L174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: L174Q
| 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: L174Q
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: L174Q
| 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 |
possibly damaging
Transcript: ENSMUST00000168381
AA Change: L174Q
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: L174Q
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,997,954 (GRCm39) |
|
probably null |
Het |
| Akap11 |
T |
C |
14: 78,750,672 (GRCm39) |
T572A |
|
Het |
| Amigo2 |
A |
T |
15: 97,144,038 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,542 (GRCm39) |
I1297T |
possibly damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,167,233 (GRCm39) |
C623* |
probably null |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Asb15 |
C |
T |
6: 24,559,296 (GRCm39) |
P147L |
possibly damaging |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,897,679 (GRCm39) |
F113L |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,616,087 (GRCm39) |
R393H |
probably benign |
Het |
| Cul4a |
G |
A |
8: 13,177,727 (GRCm39) |
C289Y |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,111,653 (GRCm39) |
F477I |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,139,027 (GRCm39) |
A116V |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,451,803 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,774 (GRCm39) |
I874V |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,828 (GRCm39) |
S196T |
probably damaging |
Het |
| Erc2 |
T |
G |
14: 27,375,122 (GRCm39) |
D113E |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,274,066 (GRCm39) |
I1103V |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,490,766 (GRCm39) |
T308A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,950 (GRCm39) |
N2650K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,809,186 (GRCm39) |
D2562G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,607,695 (GRCm39) |
L67* |
probably null |
Het |
| Irx3 |
T |
A |
8: 92,526,834 (GRCm39) |
D290V |
probably damaging |
Het |
| Kcns1 |
A |
T |
2: 164,010,022 (GRCm39) |
Y246N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,127 (GRCm39) |
T1557A |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,929 (GRCm39) |
N29S |
possibly damaging |
Het |
| Mmp24 |
T |
C |
2: 155,641,759 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,955,119 (GRCm39) |
V704A |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,803 (GRCm39) |
M112V |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,195,162 (GRCm39) |
H1659N |
possibly damaging |
Het |
| Nlgn1 |
C |
T |
3: 26,187,534 (GRCm39) |
C117Y |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,416,489 (GRCm39) |
T237M |
possibly damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,672 (GRCm39) |
V152I |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,423,917 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Or5v1 |
A |
T |
17: 37,810,261 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,650 (GRCm39) |
I204N |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,104,402 (GRCm39) |
T641M |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,940,203 (GRCm39) |
H537R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,701,584 (GRCm39) |
V326A |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,601,995 (GRCm39) |
C122S |
probably benign |
Het |
| Sh3bgrl3 |
C |
A |
4: 133,855,312 (GRCm39) |
A45S |
probably benign |
Het |
| Slc25a47 |
T |
C |
12: 108,821,868 (GRCm39) |
V219A |
possibly damaging |
Het |
| Slfn9 |
A |
C |
11: 82,873,605 (GRCm39) |
S433A |
probably benign |
Het |
| Spata13 |
A |
T |
14: 60,993,957 (GRCm39) |
R1136S |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,870,911 (GRCm39) |
A1313S |
probably benign |
Het |
| Stim1 |
G |
A |
7: 102,084,688 (GRCm39) |
A547T |
possibly damaging |
Het |
| Taf5l |
A |
T |
8: 124,730,251 (GRCm39) |
I146N |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,825,824 (GRCm39) |
E225V |
possibly damaging |
Het |
| Tesc |
T |
C |
5: 118,194,495 (GRCm39) |
Y135H |
probably benign |
Het |
| Tfg |
T |
C |
16: 56,521,581 (GRCm39) |
E145G |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,565,109 (GRCm39) |
C1150* |
probably null |
Het |
| Tmtc1 |
T |
C |
6: 148,172,883 (GRCm39) |
N616S |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,797 (GRCm39) |
W1600R |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,526 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
T |
3: 10,413,615 (GRCm39) |
L24* |
probably null |
Het |
| Zfp282 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
6: 47,881,722 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
A |
C |
2: 114,027,891 (GRCm39) |
F59L |
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 |
|
|
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 |
|
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'- CAAGGAAAGCCTGGTCATCC -3'
(R):5'- CCCAAATATGCCTTGCTGTACATTG -3'
Sequencing Primer
(F):5'- AAAGCCTGGTCATCCTCCGG -3'
(R):5'- GCCTTGCTGTACATTGAACTTAAGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation