Incidental Mutation 'R8928:Ppp4r3b'
| ID |
692981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| MMRRC Submission |
068772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29144598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 316
(V316A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000127621]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020755
AA Change: V316A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: V316A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
2e-24 |
SMART |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
Pfam:SMK-1
|
168 |
359 |
3.6e-84 |
PFAM |
|
low complexity region
|
511 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102856
AA Change: V316A
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: V316A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
2e-25 |
SMART |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
Pfam:SMK-1
|
166 |
359 |
3.8e-87 |
PFAM |
|
low complexity region
|
511 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127621
|
| SMART Domains |
Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
98 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1038 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
A |
1: 179,596,626 (GRCm39) |
S1056I |
possibly damaging |
Het |
| Ajm1 |
A |
G |
2: 25,468,577 (GRCm39) |
Y445H |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,606 (GRCm39) |
D743E |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,118,513 (GRCm39) |
H203L |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,429,279 (GRCm39) |
T35I |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Cabp7 |
T |
A |
11: 4,696,640 (GRCm39) |
I30F |
possibly damaging |
Het |
| Ccdc113 |
T |
C |
8: 96,267,584 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,462,245 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
G |
T |
4: 133,859,715 (GRCm39) |
H651Q |
probably benign |
Het |
| Cfap43 |
T |
A |
19: 47,804,399 (GRCm39) |
I266L |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,315,123 (GRCm39) |
T1179A |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,376,715 (GRCm39) |
V1513A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,369,582 (GRCm39) |
V1905L |
|
Het |
| D630003M21Rik |
T |
C |
2: 158,059,447 (GRCm39) |
E151G |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,866,828 (GRCm39) |
Y2306F |
probably damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,674 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
G |
T |
18: 20,243,225 (GRCm39) |
T76K |
probably benign |
Het |
| Egfem1 |
A |
C |
3: 29,744,561 (GRCm39) |
*591C |
probably null |
Het |
| Elapor2 |
T |
A |
5: 9,496,979 (GRCm39) |
H814Q |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,641,777 (GRCm39) |
|
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,209,354 (GRCm39) |
T163A |
probably benign |
Het |
| Gm45844 |
A |
G |
7: 7,281,094 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,302,723 (GRCm39) |
V996D |
probably benign |
Het |
| Hepacam2 |
C |
A |
6: 3,467,623 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
G |
16: 18,716,537 (GRCm39) |
T101A |
probably benign |
Het |
| Ighv8-9 |
T |
A |
12: 115,432,204 (GRCm39) |
T36S |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,843,832 (GRCm39) |
C413S |
probably damaging |
Het |
| Lpcat2b |
G |
T |
5: 107,580,913 (GRCm39) |
V81L |
probably benign |
Het |
| Map1b |
C |
G |
13: 99,568,624 (GRCm39) |
E1366Q |
unknown |
Het |
| Marchf4 |
C |
A |
1: 72,574,035 (GRCm39) |
A88S |
probably benign |
Het |
| Mbnl2 |
A |
G |
14: 120,633,974 (GRCm39) |
T324A |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,507,651 (GRCm39) |
M387K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,623,356 (GRCm39) |
S2069P |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,393,781 (GRCm39) |
T2927S |
probably benign |
Het |
| Nfatc1 |
A |
T |
18: 80,741,180 (GRCm39) |
N273K |
possibly damaging |
Het |
| Or10p22 |
T |
C |
10: 128,826,317 (GRCm39) |
C179R |
probably damaging |
Het |
| Or2i1 |
T |
A |
17: 37,507,861 (GRCm39) |
T258S |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,709,750 (GRCm39) |
T278S |
possibly damaging |
Het |
| Or5v1 |
A |
T |
17: 37,809,583 (GRCm39) |
I14F |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,547 (GRCm39) |
K308E |
|
Het |
| Or8b49 |
A |
T |
9: 38,505,662 (GRCm39) |
L48F |
probably damaging |
Het |
| Parp16 |
A |
G |
9: 65,133,396 (GRCm39) |
D79G |
probably benign |
Het |
| Ptcd2 |
G |
A |
13: 99,476,505 (GRCm39) |
T78I |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,250,313 (GRCm39) |
Y155C |
probably damaging |
Het |
| Slc5a7 |
G |
T |
17: 54,591,258 (GRCm39) |
Q225K |
possibly damaging |
Het |
| Stom |
T |
C |
2: 35,205,937 (GRCm39) |
N264S |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,108,190 (GRCm39) |
E454K |
probably damaging |
Het |
| Tmem209 |
C |
T |
6: 30,489,365 (GRCm39) |
C495Y |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,099 (GRCm39) |
D647G |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,101 (GRCm39) |
V264E |
probably damaging |
Het |
| Wscd2 |
A |
T |
5: 113,715,401 (GRCm39) |
I414F |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,983,787 (GRCm39) |
V585A |
probably benign |
Het |
| Zfp456 |
G |
A |
13: 67,514,603 (GRCm39) |
R368C |
probably benign |
Het |
| Zscan18 |
G |
A |
7: 12,509,120 (GRCm39) |
Q127* |
probably null |
Het |
|
| Other mutations in Ppp4r3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Ppp4r3b
|
APN |
11 |
29,161,782 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00593:Ppp4r3b
|
APN |
11 |
29,147,205 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01109:Ppp4r3b
|
APN |
11 |
29,138,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01311:Ppp4r3b
|
APN |
11 |
29,144,591 (GRCm39) |
missense |
probably benign |
|
|
IGL01397:Ppp4r3b
|
APN |
11 |
29,163,594 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01546:Ppp4r3b
|
APN |
11 |
29,159,488 (GRCm39) |
splice site |
probably null |
|
|
IGL02588:Ppp4r3b
|
APN |
11 |
29,148,853 (GRCm39) |
nonsense |
probably null |
|
|
IGL02713:Ppp4r3b
|
APN |
11 |
29,138,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02717:Ppp4r3b
|
APN |
11 |
29,123,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
brando
|
UTSW |
11 |
29,161,667 (GRCm39) |
missense |
probably benign |
|
|
Debatable
|
UTSW |
11 |
29,159,436 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Kindness
|
UTSW |
11 |
29,123,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
Maris
|
UTSW |
11 |
29,159,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stella
|
UTSW |
11 |
29,146,290 (GRCm39) |
missense |
probably null |
|
|
PIT1430001:Ppp4r3b
|
UTSW |
11 |
29,159,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4677001:Ppp4r3b
|
UTSW |
11 |
29,137,978 (GRCm39) |
missense |
probably benign |
|
|
R0766:Ppp4r3b
|
UTSW |
11 |
29,123,358 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1170:Ppp4r3b
|
UTSW |
11 |
29,159,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1312:Ppp4r3b
|
UTSW |
11 |
29,123,358 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1511:Ppp4r3b
|
UTSW |
11 |
29,132,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Ppp4r3b
|
UTSW |
11 |
29,138,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1699:Ppp4r3b
|
UTSW |
11 |
29,163,765 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2303:Ppp4r3b
|
UTSW |
11 |
29,150,741 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2339:Ppp4r3b
|
UTSW |
11 |
29,150,725 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4378:Ppp4r3b
|
UTSW |
11 |
29,159,450 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4940:Ppp4r3b
|
UTSW |
11 |
29,161,740 (GRCm39) |
missense |
probably benign |
|
|
R5256:Ppp4r3b
|
UTSW |
11 |
29,138,293 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5266:Ppp4r3b
|
UTSW |
11 |
29,123,309 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5286:Ppp4r3b
|
UTSW |
11 |
29,161,667 (GRCm39) |
missense |
probably benign |
|
|
R5354:Ppp4r3b
|
UTSW |
11 |
29,161,646 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5877:Ppp4r3b
|
UTSW |
11 |
29,159,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Ppp4r3b
|
UTSW |
11 |
29,138,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Ppp4r3b
|
UTSW |
11 |
29,168,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6773:Ppp4r3b
|
UTSW |
11 |
29,155,639 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6931:Ppp4r3b
|
UTSW |
11 |
29,161,786 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7051:Ppp4r3b
|
UTSW |
11 |
29,132,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Ppp4r3b
|
UTSW |
11 |
29,148,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:Ppp4r3b
|
UTSW |
11 |
29,138,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7741:Ppp4r3b
|
UTSW |
11 |
29,155,701 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7746:Ppp4r3b
|
UTSW |
11 |
29,123,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Ppp4r3b
|
UTSW |
11 |
29,138,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8129:Ppp4r3b
|
UTSW |
11 |
29,159,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Ppp4r3b
|
UTSW |
11 |
29,123,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8685:Ppp4r3b
|
UTSW |
11 |
29,159,436 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8910:Ppp4r3b
|
UTSW |
11 |
29,146,290 (GRCm39) |
missense |
probably null |
|
|
R8947:Ppp4r3b
|
UTSW |
11 |
29,150,758 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8954:Ppp4r3b
|
UTSW |
11 |
29,155,669 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8991:Ppp4r3b
|
UTSW |
11 |
29,123,306 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R9068:Ppp4r3b
|
UTSW |
11 |
29,159,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9225:Ppp4r3b
|
UTSW |
11 |
29,155,648 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9417:Ppp4r3b
|
UTSW |
11 |
29,144,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ppp4r3b
|
UTSW |
11 |
29,124,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9635:Ppp4r3b
|
UTSW |
11 |
29,138,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCAGTTCTCAGAAAACACTGC -3'
(R):5'- ACTTGATGCCTCCTAAAACCTC -3'
Sequencing Primer
(F):5'- ACTGCTTATATTCTCACACTTCAGG -3'
(R):5'- TGCCTCCTAAAACCTCTTTATAAATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation