Incidental Mutation 'R7746:Ppp4r3b'
| ID |
596849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| MMRRC Submission |
045802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29123352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000156280]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020755
AA Change: D16G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D16G
| 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: D16G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: D16G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
| 9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
| Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
| Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| Bach1 |
G |
A |
16: 87,526,521 (GRCm39) |
S661N |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
| C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,940,696 (GRCm39) |
I439V |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
| Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
| Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
| Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
| Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
| Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
| Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
| Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,894,708 (GRCm39) |
I1012M |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,801 (GRCm39) |
T281A |
probably benign |
Het |
| Syt4 |
T |
A |
18: 31,577,318 (GRCm39) |
D12V |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
probably benign |
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 |
|
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'- CGGCTAAACCTTTAGAGCCATGG -3'
(R):5'- TGTCCCTAGTGGTGCTAGTC -3'
Sequencing Primer
(F):5'- CCTTTAGAGCCATGGTAAACTCGG -3'
(R):5'- CCCTAGTGGTGCTAGTCAGAATAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation