Incidental Mutation 'R1554:Ppp4r3a'
ID |
170180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r3a
|
Ensembl Gene |
ENSMUSG00000041846 |
Gene Name |
protein phosphatase 4 regulatory subunit 3A |
Synonyms |
1110034C04Rik, Smek1 |
MMRRC Submission |
039593-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R1554 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101022081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 307
(D307E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
[ENSMUST00000223091]
|
AlphaFold |
Q6P2K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048305
AA Change: D307E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041667 Gene: ENSMUSG00000041846 AA Change: D307E
Domain | Start | End | E-Value | Type |
SCOP:d1k5db_
|
7 |
96 |
3e-24 |
SMART |
Pfam:SMK-1
|
164 |
357 |
5.8e-85 |
PFAM |
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
low complexity region
|
495 |
503 |
N/A |
INTRINSIC |
low complexity region
|
705 |
720 |
N/A |
INTRINSIC |
low complexity region
|
753 |
770 |
N/A |
INTRINSIC |
low complexity region
|
795 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163095
AA Change: D307E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129654 Gene: ENSMUSG00000041846 AA Change: D307E
Domain | Start | End | E-Value | Type |
SCOP:d1k5db_
|
7 |
96 |
4e-24 |
SMART |
Pfam:SMK-1
|
166 |
357 |
2.5e-84 |
PFAM |
low complexity region
|
508 |
516 |
N/A |
INTRINSIC |
low complexity region
|
718 |
733 |
N/A |
INTRINSIC |
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223161
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,886,302 (GRCm39) |
D70E |
possibly damaging |
Het |
Adamts7 |
A |
T |
9: 90,055,703 (GRCm39) |
D152V |
probably damaging |
Het |
Api5 |
T |
C |
2: 94,255,988 (GRCm39) |
D233G |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,973,998 (GRCm39) |
D1390G |
probably benign |
Het |
Cep135 |
G |
A |
5: 76,782,060 (GRCm39) |
W893* |
probably null |
Het |
Cgas |
A |
T |
9: 78,342,838 (GRCm39) |
S321R |
probably damaging |
Het |
Cmtm6 |
T |
A |
9: 114,575,550 (GRCm39) |
V153D |
possibly damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,234 (GRCm39) |
V1735I |
possibly damaging |
Het |
Dnm1l |
T |
C |
16: 16,159,290 (GRCm39) |
N104S |
probably benign |
Het |
Dpyd |
A |
T |
3: 118,858,695 (GRCm39) |
|
probably null |
Het |
Dtx1 |
T |
C |
5: 120,821,386 (GRCm39) |
K387R |
probably damaging |
Het |
Ercc4 |
A |
G |
16: 12,965,486 (GRCm39) |
D706G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,144,490 (GRCm39) |
N4128S |
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,655,653 (GRCm39) |
C639S |
possibly damaging |
Het |
Grk3 |
T |
A |
5: 113,117,135 (GRCm39) |
I89L |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 28,125,852 (GRCm39) |
D91E |
probably benign |
Het |
Havcr1 |
C |
A |
11: 46,643,334 (GRCm39) |
H85N |
probably benign |
Het |
Il12rb1 |
G |
A |
8: 71,266,016 (GRCm39) |
|
probably null |
Het |
Kif3a |
A |
G |
11: 53,489,154 (GRCm39) |
K117E |
probably damaging |
Het |
Kitl |
T |
A |
10: 99,923,300 (GRCm39) |
F15L |
probably benign |
Het |
Ktn1 |
T |
G |
14: 47,932,964 (GRCm39) |
L706R |
probably damaging |
Het |
Lipg |
T |
C |
18: 75,081,118 (GRCm39) |
Y321C |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,122,033 (GRCm39) |
D710G |
probably benign |
Het |
Mchr1 |
A |
G |
15: 81,120,021 (GRCm39) |
N16S |
probably benign |
Het |
Myadml2 |
A |
T |
11: 120,538,553 (GRCm39) |
L94* |
probably null |
Het |
Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,894,474 (GRCm39) |
I6677T |
unknown |
Het |
Ogn |
A |
C |
13: 49,774,520 (GRCm39) |
D221A |
probably benign |
Het |
Or8b40 |
T |
C |
9: 38,027,230 (GRCm39) |
I46T |
probably benign |
Het |
Pard3b |
C |
A |
1: 62,677,053 (GRCm39) |
Q1195K |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,157,785 (GRCm39) |
E608G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,211,516 (GRCm39) |
D259G |
probably benign |
Het |
Per1 |
T |
C |
11: 68,994,453 (GRCm39) |
S526P |
probably damaging |
Het |
Pfkfb2 |
A |
G |
1: 130,634,209 (GRCm39) |
V156A |
probably damaging |
Het |
Rims4 |
T |
C |
2: 163,721,042 (GRCm39) |
S70G |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,665 (GRCm39) |
F2625L |
probably benign |
Het |
Sap130 |
T |
C |
18: 31,799,525 (GRCm39) |
L334P |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,952,796 (GRCm39) |
I233V |
probably benign |
Het |
Slc16a7 |
A |
C |
10: 125,066,791 (GRCm39) |
F283V |
possibly damaging |
Het |
Slc25a24 |
T |
C |
3: 109,043,586 (GRCm39) |
M81T |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,484,264 (GRCm39) |
R134G |
probably damaging |
Het |
Slc35d3 |
G |
T |
10: 19,726,483 (GRCm39) |
L96M |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,336,345 (GRCm39) |
G333D |
probably damaging |
Het |
Stam |
T |
C |
2: 14,146,639 (GRCm39) |
S446P |
probably benign |
Het |
Stk38 |
T |
A |
17: 29,198,206 (GRCm39) |
N248I |
possibly damaging |
Het |
Tasor2 |
A |
G |
13: 3,626,374 (GRCm39) |
V1192A |
possibly damaging |
Het |
Tle6 |
A |
C |
10: 81,431,219 (GRCm39) |
S221A |
probably benign |
Het |
Tmprss11b |
G |
A |
5: 86,809,490 (GRCm39) |
T334I |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,930,711 (GRCm39) |
H262R |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,711,081 (GRCm39) |
S118P |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,019,218 (GRCm39) |
V1068A |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,877 (GRCm39) |
I591V |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,600,599 (GRCm39) |
Y38* |
probably null |
Het |
Vmn1r217 |
A |
T |
13: 23,298,464 (GRCm39) |
I146N |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,126 (GRCm39) |
Y938C |
probably damaging |
Het |
|
Other mutations in Ppp4r3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Ppp4r3a
|
APN |
12 |
101,016,053 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00532:Ppp4r3a
|
APN |
12 |
101,010,912 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01359:Ppp4r3a
|
APN |
12 |
101,024,755 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01873:Ppp4r3a
|
APN |
12 |
101,008,094 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02676:Ppp4r3a
|
APN |
12 |
101,008,770 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02756:Ppp4r3a
|
APN |
12 |
101,024,582 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03196:Ppp4r3a
|
APN |
12 |
101,015,913 (GRCm39) |
splice site |
probably benign |
|
IGL03206:Ppp4r3a
|
APN |
12 |
101,024,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1101:Ppp4r3a
|
UTSW |
12 |
101,017,830 (GRCm39) |
missense |
probably damaging |
0.98 |
R1434:Ppp4r3a
|
UTSW |
12 |
101,009,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R1526:Ppp4r3a
|
UTSW |
12 |
101,007,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R1650:Ppp4r3a
|
UTSW |
12 |
101,010,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Ppp4r3a
|
UTSW |
12 |
101,024,741 (GRCm39) |
missense |
probably damaging |
0.99 |
R2152:Ppp4r3a
|
UTSW |
12 |
101,008,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R2322:Ppp4r3a
|
UTSW |
12 |
101,008,878 (GRCm39) |
missense |
probably damaging |
0.98 |
R2421:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
R2422:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
R2859:Ppp4r3a
|
UTSW |
12 |
101,008,906 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2884:Ppp4r3a
|
UTSW |
12 |
101,034,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R4157:Ppp4r3a
|
UTSW |
12 |
101,021,878 (GRCm39) |
missense |
probably damaging |
0.97 |
R4651:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
R4652:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
R4706:Ppp4r3a
|
UTSW |
12 |
101,008,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Ppp4r3a
|
UTSW |
12 |
101,049,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4775:Ppp4r3a
|
UTSW |
12 |
101,019,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R5467:Ppp4r3a
|
UTSW |
12 |
101,009,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R5634:Ppp4r3a
|
UTSW |
12 |
101,009,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5704:Ppp4r3a
|
UTSW |
12 |
101,049,619 (GRCm39) |
utr 5 prime |
probably benign |
|
R5707:Ppp4r3a
|
UTSW |
12 |
101,024,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Ppp4r3a
|
UTSW |
12 |
101,017,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5969:Ppp4r3a
|
UTSW |
12 |
101,009,838 (GRCm39) |
missense |
probably benign |
|
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
R6630:Ppp4r3a
|
UTSW |
12 |
101,016,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Ppp4r3a
|
UTSW |
12 |
101,019,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7352:Ppp4r3a
|
UTSW |
12 |
101,008,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Ppp4r3a
|
UTSW |
12 |
101,025,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7761:Ppp4r3a
|
UTSW |
12 |
101,022,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R7808:Ppp4r3a
|
UTSW |
12 |
101,019,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7811:Ppp4r3a
|
UTSW |
12 |
101,019,821 (GRCm39) |
missense |
probably damaging |
0.98 |
R8062:Ppp4r3a
|
UTSW |
12 |
101,008,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R8222:Ppp4r3a
|
UTSW |
12 |
101,008,164 (GRCm39) |
missense |
probably benign |
0.09 |
R8409:Ppp4r3a
|
UTSW |
12 |
101,008,752 (GRCm39) |
missense |
probably benign |
0.02 |
R8435:Ppp4r3a
|
UTSW |
12 |
101,049,048 (GRCm39) |
missense |
probably benign |
0.19 |
R8471:Ppp4r3a
|
UTSW |
12 |
101,021,901 (GRCm39) |
missense |
probably benign |
0.01 |
R9010:Ppp4r3a
|
UTSW |
12 |
101,024,591 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9137:Ppp4r3a
|
UTSW |
12 |
101,021,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9335:Ppp4r3a
|
UTSW |
12 |
101,007,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Ppp4r3a
|
UTSW |
12 |
101,015,919 (GRCm39) |
missense |
probably benign |
|
R9666:Ppp4r3a
|
UTSW |
12 |
101,049,129 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
R9752:Ppp4r3a
|
UTSW |
12 |
101,008,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCACAAGGTGGTTCAGAATGAAGATA -3'
(R):5'- GCTAGGTGCTGGGTGATTTCACA -3'
Sequencing Primer
(F):5'- GACTTCTAAAGCTGGTAATATGCCC -3'
(R):5'- tcattgtaacacagctatactcattc -3'
|
Posted On |
2014-04-13 |