Incidental Mutation 'R8222:Ppp4r3a'
| ID |
636779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3a
|
| Ensembl Gene |
ENSMUSG00000041846 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3A |
| Synonyms |
1110034C04Rik, Smek1 |
| MMRRC Submission |
067640-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R8222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101008164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 758
(S758P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
|
| AlphaFold |
Q6P2K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048305
AA Change: S758P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: S758P
| 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: S771P
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: S771P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
C |
T |
19: 40,562,296 (GRCm39) |
V243I |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,622,347 (GRCm39) |
S481T |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,618,475 (GRCm39) |
I859T |
possibly damaging |
Het |
| B4galt3 |
G |
A |
1: 171,100,253 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Bace1 |
T |
C |
9: 45,768,491 (GRCm39) |
V262A |
probably damaging |
Het |
| BC106179 |
A |
T |
16: 23,043,055 (GRCm39) |
I47N |
noncoding transcript |
Het |
| Brpf1 |
C |
T |
6: 113,286,999 (GRCm39) |
P76S |
probably benign |
Het |
| Cdk1 |
A |
G |
10: 69,176,426 (GRCm39) |
V227A |
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,705,618 (GRCm39) |
V203A |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,440,486 (GRCm39) |
Y1091N |
probably damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,727 (GRCm39) |
V194A |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,545,617 (GRCm39) |
D749G |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,728,059 (GRCm39) |
T8A |
probably benign |
Het |
| Dlk2 |
A |
G |
17: 46,613,384 (GRCm39) |
H170R |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,647 (GRCm39) |
R987Q |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,276,933 (GRCm39) |
I665T |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,276 (GRCm39) |
T471A |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,449,744 (GRCm39) |
F153L |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,109,130 (GRCm39) |
V1043A |
possibly damaging |
Het |
| Ipo5 |
A |
G |
14: 121,157,414 (GRCm39) |
D84G |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,459,110 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
A |
2: 91,305,086 (GRCm39) |
C238S |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,485,827 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,707,477 (GRCm39) |
F1589L |
probably benign |
Het |
| Mlxip |
T |
G |
5: 123,585,596 (GRCm39) |
S662A |
probably benign |
Het |
| Mn1 |
A |
T |
5: 111,566,546 (GRCm39) |
N172I |
probably damaging |
Het |
| Mup2 |
A |
C |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,439,614 (GRCm39) |
E397G |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,833,799 (GRCm39) |
E153G |
probably damaging |
Het |
| Or13p10 |
T |
C |
4: 118,523,113 (GRCm39) |
L133P |
probably damaging |
Het |
| Or51f5 |
G |
T |
7: 102,424,099 (GRCm39) |
D123Y |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,381 (GRCm39) |
Y115F |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,788 (GRCm39) |
N263S |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,701,640 (GRCm39) |
H1432L |
probably benign |
Het |
| Plec |
C |
T |
15: 76,063,374 (GRCm39) |
R2232H |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,632,023 (GRCm39) |
M317V |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,536,893 (GRCm39) |
D479E |
possibly damaging |
Het |
| Prdm9 |
A |
G |
17: 15,765,035 (GRCm39) |
S582P |
possibly damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,564,616 (GRCm39) |
L643H |
probably damaging |
Het |
| Rassf8 |
G |
A |
6: 145,765,783 (GRCm39) |
V38M |
unknown |
Het |
| Reln |
G |
A |
5: 22,136,475 (GRCm39) |
Q2518* |
probably null |
Het |
| Sel1l3 |
A |
G |
5: 53,345,296 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
A |
T |
12: 104,358,960 (GRCm39) |
D324V |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,169,870 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
G |
10: 90,954,053 (GRCm39) |
W219R |
probably damaging |
Het |
| Sort1 |
T |
A |
3: 108,241,951 (GRCm39) |
V299E |
probably benign |
Het |
| Stx6 |
A |
G |
1: 155,073,889 (GRCm39) |
D233G |
possibly damaging |
Het |
| Tefm |
A |
G |
11: 80,031,230 (GRCm39) |
V2A |
|
Het |
| Tfdp2 |
T |
C |
9: 96,192,666 (GRCm39) |
S190P |
possibly damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,478,461 (GRCm39) |
I755N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,253,390 (GRCm39) |
|
probably null |
Het |
| Ube2q2l |
A |
G |
6: 136,377,882 (GRCm39) |
I316T |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,608,369 (GRCm39) |
L490P |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,614,234 (GRCm39) |
L1240P |
probably damaging |
Het |
| Vmn1r159 |
G |
T |
7: 22,542,608 (GRCm39) |
Y141* |
probably null |
Het |
| Vmn2r56 |
T |
A |
7: 12,444,960 (GRCm39) |
Y431F |
probably benign |
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 |
|
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 |
|
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'- TCACCTTCAGTTCATAGCATTTAGC -3'
(R):5'- TTCTCAGCAAAGAAATGAGCTGG -3'
Sequencing Primer
(F):5'- TAGCTAGCTAGTTCCAGAAAGC -3'
(R):5'- GCAAAGAAATGAGCTGGTTACTTATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation