Incidental Mutation 'R5286:Ppp4r3b'
| ID |
424365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| MMRRC Submission |
042870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5286 (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 29161667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 680
(D680E)
|
| 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: D680E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D680E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148759
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,742,358 (GRCm39) |
I417V |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,119,399 (GRCm39) |
V160A |
possibly damaging |
Het |
| Adcy7 |
A |
G |
8: 89,051,487 (GRCm39) |
E869G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,977,242 (GRCm39) |
A4352T |
probably damaging |
Het |
| Brd2 |
T |
A |
17: 34,334,205 (GRCm39) |
T286S |
probably damaging |
Het |
| Bsn |
G |
T |
9: 107,988,123 (GRCm39) |
|
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,057,884 (GRCm39) |
T335A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 30,072,682 (GRCm39) |
S98T |
possibly damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,105,810 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dlgap4 |
T |
G |
2: 156,587,839 (GRCm39) |
V39G |
probably damaging |
Het |
| Epb41l3 |
G |
A |
17: 69,569,268 (GRCm39) |
R504H |
probably benign |
Het |
| Fbxo7 |
T |
C |
10: 85,857,954 (GRCm39) |
L23P |
probably damaging |
Het |
| Gm42791 |
A |
C |
5: 148,887,178 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,582,910 (GRCm39) |
F320I |
possibly damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,262,580 (GRCm39) |
T1093M |
possibly damaging |
Het |
| Hddc3 |
G |
T |
7: 79,993,543 (GRCm39) |
R83L |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,055,318 (GRCm39) |
|
probably benign |
Het |
| Ift25 |
T |
A |
4: 107,136,998 (GRCm39) |
I132N |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,599 (GRCm39) |
K1656E |
probably benign |
Het |
| Itk |
A |
C |
11: 46,228,926 (GRCm39) |
|
probably null |
Het |
| Klra6 |
G |
A |
6: 129,995,932 (GRCm39) |
T142I |
probably benign |
Het |
| Knop1 |
C |
T |
7: 118,454,993 (GRCm39) |
A3T |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,808,608 (GRCm39) |
H788R |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,109,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,473,552 (GRCm39) |
S77G |
probably benign |
Het |
| Nt5dc3 |
T |
C |
10: 86,640,656 (GRCm39) |
S13P |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,084 (GRCm39) |
V152A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,761 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,378,368 (GRCm39) |
Q1041* |
probably null |
Het |
| Ppl |
G |
A |
16: 4,906,987 (GRCm39) |
R1103* |
probably null |
Het |
| Rasgrf2 |
T |
G |
13: 92,267,941 (GRCm39) |
K21T |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,094,407 (GRCm39) |
K1004* |
probably null |
Het |
| Rgs9 |
T |
G |
11: 109,130,277 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
C |
14: 55,829,693 (GRCm39) |
L86P |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,155 (GRCm39) |
Y18H |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,958,909 (GRCm39) |
F33S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,428 (GRCm39) |
V2895D |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,187,428 (GRCm39) |
N232S |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,404,140 (GRCm39) |
Y772N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,062,483 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,684,530 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,084,120 (GRCm39) |
W98R |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,415,058 (GRCm39) |
D360V |
probably damaging |
Het |
| Wdr73 |
A |
T |
7: 80,541,557 (GRCm39) |
D328E |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,545,406 (GRCm39) |
N824S |
probably benign |
Het |
| Zbtb2 |
C |
T |
10: 4,318,566 (GRCm39) |
G487S |
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 |
|
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 |
|
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'- TAAACTGTCTTTCTGCCACATCAG -3'
(R):5'- GGATCAAACTCAGGCTGTATAATTG -3'
Sequencing Primer
(F):5'- TCTGCCACATCAGTTAATTATATGAC -3'
(R):5'- GGAAAATCATCTTCAGTCTTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation