Incidental Mutation 'R6539:Ppp4r3b'
| ID |
520614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| MMRRC Submission |
044665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6539 (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 A
at 29168503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 73
(D73E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020754]
[ENSMUST00000020755]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020754
|
| SMART Domains |
Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARL2_Bind_BART
|
8 |
122 |
3.8e-43 |
PFAM |
|
coiled coil region
|
147 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020755
AA Change: D805E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D805E
| 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 |
noncoding transcript
Transcript: ENSMUST00000127818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148759
AA Change: D73E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,272,616 (GRCm39) |
A513V |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,127 (GRCm39) |
D147G |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,913,924 (GRCm39) |
D649G |
probably damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,251,606 (GRCm39) |
I329V |
probably benign |
Het |
| Card6 |
T |
A |
15: 5,134,873 (GRCm39) |
N110I |
probably damaging |
Het |
| Cfap410 |
A |
G |
10: 77,820,322 (GRCm39) |
T231A |
probably benign |
Het |
| Chn2 |
T |
A |
6: 54,150,446 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
G |
A |
12: 108,319,416 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
A |
17: 49,776,739 (GRCm39) |
H782L |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,262 (GRCm39) |
I22V |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,245 (GRCm39) |
M278V |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,159,478 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
A |
2: 24,694,779 (GRCm39) |
H1056L |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,040,218 (GRCm39) |
D527N |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,515,186 (GRCm39) |
K1079E |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,592,206 (GRCm39) |
G231R |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,214,358 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
G |
A |
12: 40,253,434 (GRCm39) |
A426V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,313,643 (GRCm39) |
L1358P |
possibly damaging |
Het |
| Igkv5-37 |
A |
T |
6: 69,940,800 (GRCm39) |
S16T |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,778,966 (GRCm39) |
L449P |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,986,863 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
T |
6: 60,964,168 (GRCm39) |
T1056S |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,935,056 (GRCm39) |
H164Y |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,548,621 (GRCm39) |
T5891A |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,021,565 (GRCm39) |
E62G |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,789 (GRCm38) |
V475D |
possibly damaging |
Het |
| Or4c101 |
T |
C |
2: 88,389,864 (GRCm39) |
F6S |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,114 (GRCm39) |
S106R |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Parvg |
T |
A |
15: 84,225,541 (GRCm39) |
D349E |
probably damaging |
Het |
| Pitpna |
A |
G |
11: 75,489,127 (GRCm39) |
Y58C |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,113,420 (GRCm39) |
V338A |
probably benign |
Het |
| Sec23a |
T |
C |
12: 59,031,998 (GRCm39) |
T411A |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,347,011 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,950,177 (GRCm39) |
M1056T |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,447,813 (GRCm39) |
|
probably null |
Het |
| Tent5a |
T |
C |
9: 85,208,614 (GRCm39) |
I70V |
possibly damaging |
Het |
| Tpx2 |
G |
T |
2: 152,718,518 (GRCm39) |
E174* |
probably null |
Het |
| Trpc4ap |
G |
T |
2: 155,478,178 (GRCm39) |
P663T |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,045 (GRCm39) |
G441D |
probably damaging |
Het |
| Xrcc2 |
G |
T |
5: 25,897,530 (GRCm39) |
R140S |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,247,907 (GRCm39) |
E1037K |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,309,168 (GRCm39) |
Q798L |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,716 (GRCm39) |
T236M |
probably 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 |
|
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 |
|
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'- CAGCAGAAGCACTCAGTAAATG -3'
(R):5'- AGTCTCTGCTACTCCGTGTG -3'
Sequencing Primer
(F):5'- TTGTACCATGCTGTTTTCA -3'
(R):5'- CCGTGTGTTAAGTTCCATATGAAAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation