Incidental Mutation 'R1101:Ppp4r3a'
ID |
98119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r3a
|
Ensembl Gene |
ENSMUSG00000041846 |
Gene Name |
protein phosphatase 4 regulatory subunit 3A |
Synonyms |
1110034C04Rik, Smek1 |
MMRRC Submission |
039174-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R1101 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101017830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 440
(R440L)
|
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: R440L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041667 Gene: ENSMUSG00000041846 AA Change: R440L
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 benign
Transcript: ENSMUST00000163095
AA Change: R453L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000129654 Gene: ENSMUSG00000041846 AA Change: R453L
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: ENSMUST00000222956
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223091
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
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 |
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'- GCATACAGTGCTTGTAGAAGAAACCCA -3'
(R):5'- ACTGTCTTTGAACTACCCATCAGGGAA -3'
Sequencing Primer
(F):5'- GCTTGTAGAAGAAACCCAGAAATTC -3'
(R):5'- GGGAAAAGAGAAACTTCCATCTATC -3'
|
Posted On |
2014-01-05 |