Incidental Mutation 'R7811:Ppp4r3a'
| ID |
601180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3a
|
| Ensembl Gene |
ENSMUSG00000041846 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3A |
| Synonyms |
1110034C04Rik, Smek1 |
| MMRRC Submission |
045866-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R7811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101019821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 378
(R378L)
|
| 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: R378L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: R378L
| 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: R378L
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: R378L
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,527,141 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,616,362 (GRCm39) |
T935A |
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,254 (GRCm39) |
Y399N |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,242,335 (GRCm39) |
T1030K |
possibly damaging |
Het |
| Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,380,099 (GRCm39) |
D736G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,048,484 (GRCm39) |
|
probably null |
Het |
| Cbx4 |
A |
C |
11: 118,972,398 (GRCm39) |
C326G |
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,036,314 (GRCm39) |
E94G |
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,852,235 (GRCm39) |
T117A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,724,359 (GRCm39) |
T326A |
unknown |
Het |
| Clec5a |
C |
T |
6: 40,558,867 (GRCm39) |
C73Y |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,219,060 (GRCm39) |
D455G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,325,694 (GRCm39) |
V112D |
unknown |
Het |
| Eya3 |
T |
C |
4: 132,439,272 (GRCm39) |
I466T |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,485 (GRCm39) |
|
probably null |
Het |
| Ffar1 |
A |
G |
7: 30,560,802 (GRCm39) |
S32P |
possibly damaging |
Het |
| Fgb |
T |
C |
3: 82,957,004 (GRCm39) |
D22G |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,828,797 (GRCm39) |
Y6865H |
possibly damaging |
Het |
| Gbx1 |
T |
C |
5: 24,710,035 (GRCm39) |
E270G |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,361,643 (GRCm39) |
L207P |
probably damaging |
Het |
| Hnrnpa1 |
T |
C |
15: 103,149,900 (GRCm39) |
S54P |
possibly damaging |
Het |
| Htr4 |
A |
G |
18: 62,545,269 (GRCm39) |
E18G |
possibly damaging |
Het |
| Ide |
A |
C |
19: 37,307,910 (GRCm39) |
L34R |
|
Het |
| Ip6k3 |
A |
T |
17: 27,376,557 (GRCm39) |
Y51* |
probably null |
Het |
| Keap1 |
A |
G |
9: 21,148,956 (GRCm39) |
L17P |
possibly damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,866,939 (GRCm39) |
V668A |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,281,064 (GRCm39) |
T209S |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,804,610 (GRCm39) |
I1635T |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,544 (GRCm39) |
V299E |
probably damaging |
Het |
| Nadk |
A |
T |
4: 155,661,332 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,536,357 (GRCm39) |
W1231R |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,859,148 (GRCm39) |
T602A |
probably benign |
Het |
| Or13g1 |
T |
A |
7: 85,955,554 (GRCm39) |
T256S |
probably damaging |
Het |
| Or2r3 |
T |
A |
6: 42,448,635 (GRCm39) |
E159V |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,507 (GRCm39) |
V190A |
possibly damaging |
Het |
| Pus7l |
A |
C |
15: 94,438,707 (GRCm39) |
V46G |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,884,880 (GRCm39) |
S466L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,620,395 (GRCm39) |
M118T |
probably damaging |
Het |
| Slc29a1 |
T |
C |
17: 45,897,189 (GRCm39) |
R366G |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,515 (GRCm39) |
F98S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,824,164 (GRCm39) |
I738T |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,141,221 (GRCm39) |
V1667A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,684,248 (GRCm39) |
N574S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,136,948 (GRCm39) |
S54P |
possibly damaging |
Het |
| Trim12c |
T |
C |
7: 103,990,469 (GRCm39) |
N336S |
unknown |
Het |
| Ubap2 |
T |
C |
4: 41,211,710 (GRCm39) |
S351G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,600,553 (GRCm39) |
A1397E |
possibly damaging |
Het |
| Ush1c |
G |
A |
7: 45,854,710 (GRCm39) |
R681* |
probably null |
Het |
| Vmn2r57 |
A |
T |
7: 41,074,439 (GRCm39) |
C541* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,160 (GRCm39) |
T790S |
|
Het |
| Zfp568 |
A |
G |
7: 29,697,295 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp950 |
A |
T |
19: 61,108,353 (GRCm39) |
Y243* |
probably null |
Het |
| Zmym5 |
A |
G |
14: 57,036,434 (GRCm39) |
S238P |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,734,673 (GRCm39) |
E6G |
unknown |
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 |
|
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'- ATGACTACCTGTTCCCCAAAAGTAG -3'
(R):5'- TTGCTGGAACATCAAGCAGC -3'
Sequencing Primer
(F):5'- CCTGTTCCCCAAAAGTAGTTTAG -3'
(R):5'- TTGCTGGAACATCAAGCAGCTTAAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation