Incidental Mutation 'R7569:Ppp4r3b'
| ID |
585650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| MMRRC Submission |
045657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7569 (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 29138540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 296
(F296S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000156280]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020755
AA Change: F296S
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: F296S
| 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 damaging
Transcript: ENSMUST00000102856
AA Change: F296S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: F296S
| 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: ENSMUST00000156280
|
| SMART Domains |
Protein: ENSMUSP00000119241
Gene: ENSMUSG00000020463
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
6 |
58 |
2e-9 |
SMART |
|
low complexity region
|
78 |
89 |
N/A |
INTRINSIC |
|
Pfam:SMK-1
|
128 |
194 |
3e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.6466 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
A |
T |
15: 40,008,344 (GRCm39) |
T73S |
unknown |
Het |
| Acvrl1 |
A |
G |
15: 101,033,636 (GRCm39) |
Q106R |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,306,996 (GRCm39) |
D329E |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,289,900 (GRCm39) |
D1844E |
probably damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Apol6 |
A |
C |
15: 76,934,898 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,629,506 (GRCm39) |
V618M |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,619,046 (GRCm39) |
T113A |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,093,151 (GRCm39) |
H769L |
probably benign |
Het |
| Bcl11a |
G |
T |
11: 24,035,458 (GRCm39) |
E65* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,905,077 (GRCm39) |
R1290L |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,819,063 (GRCm39) |
E465G |
probably benign |
Het |
| Cav2 |
T |
A |
6: 17,282,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,957,539 (GRCm39) |
A848V |
probably damaging |
Het |
| Col8a1 |
T |
A |
16: 57,447,555 (GRCm39) |
I652F |
unknown |
Het |
| Cul4a |
A |
G |
8: 13,173,493 (GRCm39) |
N180S |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,287,327 (GRCm39) |
S214P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,323,271 (GRCm39) |
V1197A |
possibly damaging |
Het |
| Dynlt1f |
A |
G |
17: 6,923,181 (GRCm39) |
S7P |
not run |
Het |
| Eef1ece2 |
T |
A |
16: 20,461,237 (GRCm39) |
Y641* |
probably null |
Het |
| Epha1 |
T |
A |
6: 42,342,356 (GRCm39) |
T331S |
possibly damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,847 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,978 (GRCm39) |
V2610A |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,141,046 (GRCm39) |
L651P |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,298,661 (GRCm39) |
Y361C |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,142 (GRCm39) |
V349A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,977,388 (GRCm39) |
R912G |
probably benign |
Het |
| Mtarc2 |
A |
T |
1: 184,573,622 (GRCm39) |
F92Y |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,900,433 (GRCm39) |
H459Q |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 70,999,869 (GRCm39) |
M817V |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,225,026 (GRCm39) |
R345G |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,244,019 (GRCm39) |
A18T |
possibly damaging |
Het |
| Or4d6 |
T |
C |
19: 12,086,385 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,244,479 (GRCm39) |
V248A |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,143,085 (GRCm39) |
Y373N |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,732,083 (GRCm39) |
F19L |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,832,003 (GRCm39) |
T226S |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,140,194 (GRCm39) |
N132K |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,355,063 (GRCm39) |
L379Q |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,499,892 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,672,479 (GRCm39) |
I814T |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,272,584 (GRCm39) |
G352R |
probably damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,276 (GRCm39) |
T357A |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,695 (GRCm39) |
D94E |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,183,220 (GRCm39) |
Y1018H |
probably benign |
Het |
| Srebf1 |
G |
T |
11: 60,090,947 (GRCm39) |
T1069K |
possibly damaging |
Het |
| St3gal3 |
A |
G |
4: 117,821,553 (GRCm39) |
V123A |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,030,310 (GRCm39) |
Y188C |
unknown |
Het |
| Styxl2 |
T |
C |
1: 165,935,604 (GRCm39) |
D198G |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,513,430 (GRCm39) |
F186L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,164 (GRCm39) |
T1120A |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,446,440 (GRCm39) |
S430T |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,837,411 (GRCm39) |
I573L |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,725,581 (GRCm39) |
S7P |
probably benign |
Het |
| U2af1l4 |
A |
T |
7: 30,262,982 (GRCm39) |
I24F |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,097,302 (GRCm39) |
I840N |
probably damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,601,544 (GRCm39) |
I698S |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,111,896 (GRCm39) |
P12L |
possibly damaging |
Het |
| Zfp507 |
T |
A |
7: 35,493,969 (GRCm39) |
E358V |
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 |
|
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 |
|
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'- ATATGATCCTGCTTTGGCTCA -3'
(R):5'- TTAGAGGCCAGCAAAACACA -3'
Sequencing Primer
(F):5'- TCAGCCAAAAAGACATAGAGAATTC -3'
(R):5'- AAGTTCAATCCTTGGGAGCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation