Incidental Mutation 'R4378:Ppp4r3b'
ID |
325206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r3b
|
Ensembl Gene |
ENSMUSG00000020463 |
Gene Name |
protein phosphatase 4 regulatory subunit 3B |
Synonyms |
Smek2 |
MMRRC Submission |
041121-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29159450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 180
(N180K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000127621]
|
AlphaFold |
Q922R5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020755
AA Change: N601K
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020755 Gene: ENSMUSG00000020463 AA Change: N601K
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 |
possibly damaging
Transcript: ENSMUST00000102856
AA Change: N601K
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099920 Gene: ENSMUSG00000020463 AA Change: N601K
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 |
possibly damaging
Transcript: ENSMUST00000127621
AA Change: N180K
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117918 Gene: ENSMUSG00000020463 AA Change: N180K
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
98 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148759
|
Meta Mutation Damage Score |
0.6509 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
possibly damaging |
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 |
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 |
|
R8928:Ppp4r3b
|
UTSW |
11 |
29,144,598 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TTGCTCCAAGTATTACTAGCAGGAG -3'
(R):5'- TTAGCATTCAACCATCAACCGTG -3'
Sequencing Primer
(F):5'- GAGCCAAGCCAGTTGTCATTC -3'
(R):5'- TCAACCATCAACCGTGTATAAGTAAG -3'
|
Posted On |
2015-07-06 |