Incidental Mutation 'R5467:Ppp4r3a'
ID |
433292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r3a
|
Ensembl Gene |
ENSMUSG00000041846 |
Gene Name |
protein phosphatase 4 regulatory subunit 3A |
Synonyms |
1110034C04Rik, Smek1 |
MMRRC Submission |
043028-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R5467 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101009729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 636
(E636G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041667
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
[ENSMUST00000223091]
|
AlphaFold |
Q6P2K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048305
AA Change: E636G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041667 Gene: ENSMUSG00000041846 AA Change: E636G
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 |
possibly damaging
Transcript: ENSMUST00000163095
AA Change: E649G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129654 Gene: ENSMUSG00000041846 AA Change: E649G
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 |
noncoding transcript
Transcript: ENSMUST00000220642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222956
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223091
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223459
AA Change: E25G
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,222,991 (GRCm39) |
M525T |
possibly damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,751 (GRCm39) |
V80A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bltp3b |
G |
T |
10: 89,640,961 (GRCm39) |
G711W |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,705,836 (GRCm39) |
D773V |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,102,093 (GRCm39) |
H330Q |
possibly damaging |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
C |
A |
7: 130,642,723 (GRCm39) |
S180R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elovl7 |
T |
C |
13: 108,416,156 (GRCm39) |
V182A |
probably benign |
Het |
Eml3 |
G |
A |
19: 8,914,946 (GRCm39) |
W601* |
probably null |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,927,912 (GRCm39) |
Y3775F |
probably benign |
Het |
Gns |
T |
C |
10: 121,227,351 (GRCm39) |
W454R |
probably benign |
Het |
Katnip |
T |
C |
7: 125,442,527 (GRCm39) |
F812S |
possibly damaging |
Het |
Kcnh2 |
A |
T |
5: 24,531,765 (GRCm39) |
L40* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
T |
11: 103,494,091 (GRCm39) |
C655* |
probably null |
Het |
Mgl2 |
T |
A |
11: 70,025,878 (GRCm39) |
I31N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,216,448 (GRCm39) |
T2677A |
possibly damaging |
Het |
Ndst1 |
A |
G |
18: 60,825,093 (GRCm39) |
S742P |
probably benign |
Het |
Or10g6 |
G |
T |
9: 39,933,733 (GRCm39) |
V15L |
probably benign |
Het |
Or1o11 |
G |
T |
17: 37,756,973 (GRCm39) |
C187F |
probably damaging |
Het |
Or4d6 |
A |
C |
19: 12,086,023 (GRCm39) |
S70A |
probably benign |
Het |
Or5b112 |
A |
T |
19: 13,319,521 (GRCm39) |
Y133F |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,906,200 (GRCm39) |
Y177C |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,188 (GRCm39) |
D552G |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,291,654 (GRCm39) |
V1291E |
probably damaging |
Het |
Prl5a1 |
A |
T |
13: 28,333,994 (GRCm39) |
I166L |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,449,060 (GRCm39) |
D690G |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,759 (GRCm39) |
H840R |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,050,923 (GRCm39) |
|
probably benign |
Het |
Slc31a2 |
A |
G |
4: 62,210,924 (GRCm39) |
H19R |
probably damaging |
Het |
Styxl2 |
C |
A |
1: 165,939,599 (GRCm39) |
|
probably null |
Het |
Tnks2 |
A |
T |
19: 36,859,176 (GRCm39) |
R314W |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,275,864 (GRCm39) |
D189G |
probably damaging |
Het |
Trav13n-4 |
T |
A |
14: 53,601,303 (GRCm39) |
V24E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,043,633 (GRCm39) |
Y124H |
unknown |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
R1554:Ppp4r3a
|
UTSW |
12 |
101,022,081 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGGAAGTAAAGAACCAACTCCTG -3'
(R):5'- GTTCCCAGGAGCACCAAAAG -3'
Sequencing Primer
(F):5'- TGCAACTTGTCCTGAGGATACAC -3'
(R):5'- GTCTTAGGAATTACCACAGTATGCC -3'
|
Posted On |
2016-10-06 |