Incidental Mutation 'R0114:Ppp4r4'
ID |
20676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r4
|
Ensembl Gene |
ENSMUSG00000021209 |
Gene Name |
protein phosphatase 4, regulatory subunit 4 |
Synonyms |
8430415E04Rik |
MMRRC Submission |
038400-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R0114 (G1)
|
Quality Score |
209 |
Status
|
Validated
(trace)
|
Chromosome |
12 |
Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103542633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 132
(C132S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
|
AlphaFold |
Q8C0Y0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021631
AA Change: C132S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021631 Gene: ENSMUSG00000021209 AA Change: C132S
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
55 |
577 |
6e-27 |
SMART |
PDB:3FGA|A
|
178 |
666 |
8e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187155
AA Change: C23S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140874 Gene: ENSMUSG00000021209 AA Change: C23S
Domain | Start | End | E-Value | Type |
Pfam:HEAT
|
145 |
175 |
2.8e-3 |
PFAM |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
coiled coil region
|
581 |
617 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189871
AA Change: C132S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139786 Gene: ENSMUSG00000021209 AA Change: C132S
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
95 |
577 |
7e-26 |
SMART |
PDB:1B3U|B
|
178 |
666 |
2e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 79.2%
|
Validation Efficiency |
100% (99/99) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
C |
10: 28,861,978 (GRCm39) |
|
probably benign |
Het |
4933427D14Rik |
T |
C |
11: 72,086,625 (GRCm39) |
Y262C |
probably damaging |
Het |
Adamts1 |
C |
A |
16: 85,596,502 (GRCm39) |
V379L |
probably benign |
Het |
Akt3 |
T |
C |
1: 176,894,817 (GRCm39) |
D260G |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,596,785 (GRCm39) |
L537P |
probably benign |
Het |
Anln |
A |
T |
9: 22,264,642 (GRCm39) |
I876N |
probably damaging |
Het |
Ano9 |
A |
T |
7: 140,683,152 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,311,194 (GRCm39) |
E218G |
probably benign |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Atp9a |
G |
T |
2: 168,552,776 (GRCm39) |
Y63* |
probably null |
Het |
Bmpr2 |
G |
T |
1: 59,854,499 (GRCm39) |
C116F |
probably damaging |
Het |
Cand1 |
T |
C |
10: 119,052,427 (GRCm39) |
D233G |
probably benign |
Het |
Cftr |
A |
T |
6: 18,282,447 (GRCm39) |
H1049L |
probably damaging |
Het |
Ckap5 |
A |
T |
2: 91,450,457 (GRCm39) |
D1975V |
possibly damaging |
Het |
Cyp26c1 |
T |
C |
19: 37,675,081 (GRCm39) |
V134A |
probably benign |
Het |
Dnai1 |
T |
C |
4: 41,605,686 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,413,821 (GRCm39) |
I163V |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,015,230 (GRCm39) |
|
probably null |
Het |
Fes |
A |
G |
7: 80,027,783 (GRCm39) |
V787A |
probably damaging |
Het |
Fnip1 |
C |
T |
11: 54,378,627 (GRCm39) |
|
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,411,264 (GRCm39) |
S57T |
probably benign |
Het |
Gnpat |
T |
G |
8: 125,610,096 (GRCm39) |
D426E |
probably benign |
Het |
Gnptab |
C |
A |
10: 88,269,262 (GRCm39) |
P655Q |
possibly damaging |
Het |
Gpi-ps |
A |
G |
8: 5,690,359 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,369,128 (GRCm39) |
F2941I |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,803,522 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Itga11 |
T |
G |
9: 62,642,575 (GRCm39) |
V166G |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,667,584 (GRCm39) |
V639A |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,214,377 (GRCm39) |
F1490S |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,064 (GRCm39) |
E802* |
probably null |
Het |
Lgi3 |
C |
T |
14: 70,768,469 (GRCm39) |
|
probably benign |
Het |
Limch1 |
C |
T |
5: 67,193,427 (GRCm39) |
|
probably benign |
Het |
Lipc |
T |
C |
9: 70,711,063 (GRCm39) |
N363S |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,790,002 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,017,607 (GRCm39) |
Y448C |
probably damaging |
Het |
Mybpc3 |
A |
G |
2: 90,954,839 (GRCm39) |
E450G |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,875,242 (GRCm39) |
T1549S |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,355,859 (GRCm39) |
|
probably null |
Het |
Nckap1l |
T |
A |
15: 103,363,455 (GRCm39) |
C54S |
probably benign |
Het |
Nlrp9b |
A |
G |
7: 19,757,981 (GRCm39) |
D406G |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,189,784 (GRCm39) |
|
probably benign |
Het |
Nvl |
A |
G |
1: 180,947,956 (GRCm39) |
V429A |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,448,453 (GRCm39) |
N912Y |
probably benign |
Het |
Or14j3 |
A |
T |
17: 37,900,306 (GRCm39) |
*313K |
probably null |
Het |
Or1x2 |
G |
A |
11: 50,918,431 (GRCm39) |
V201I |
probably benign |
Het |
Or52b4i |
A |
T |
7: 102,191,938 (GRCm39) |
Q265L |
probably benign |
Het |
Or6c211 |
T |
A |
10: 129,505,467 (GRCm39) |
Y307F |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,042,869 (GRCm39) |
V2317A |
possibly damaging |
Het |
Phf3 |
A |
T |
1: 30,844,524 (GRCm39) |
N1478K |
possibly damaging |
Het |
Phykpl |
G |
A |
11: 51,477,480 (GRCm39) |
D91N |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,110 (GRCm39) |
C984S |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,899,731 (GRCm39) |
R141G |
probably benign |
Het |
Ppm1d |
G |
A |
11: 85,217,731 (GRCm39) |
G20R |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppp2r5b |
C |
A |
19: 6,278,461 (GRCm39) |
V483F |
probably benign |
Het |
Prg2 |
A |
G |
2: 84,813,800 (GRCm39) |
|
probably benign |
Het |
Prpf4b |
G |
A |
13: 35,074,471 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,305,413 (GRCm39) |
W548L |
probably damaging |
Het |
Rusc2 |
G |
T |
4: 43,422,055 (GRCm39) |
C825F |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,868,826 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
G |
18: 47,423,244 (GRCm39) |
V254A |
probably damaging |
Het |
Slc13a3 |
A |
G |
2: 165,266,501 (GRCm39) |
F346L |
probably damaging |
Het |
Slc25a17 |
T |
C |
15: 81,222,160 (GRCm39) |
D104G |
probably damaging |
Het |
Specc1 |
A |
T |
11: 62,037,139 (GRCm39) |
N707Y |
possibly damaging |
Het |
Tex48 |
T |
A |
4: 63,526,696 (GRCm39) |
E76V |
probably damaging |
Het |
Tfr2 |
T |
C |
5: 137,575,727 (GRCm39) |
V281A |
probably benign |
Het |
Tgfb1i1 |
A |
C |
7: 127,848,666 (GRCm39) |
Q238H |
probably damaging |
Het |
Thoc6 |
G |
A |
17: 23,889,213 (GRCm39) |
T122I |
probably benign |
Het |
Tmtc1 |
G |
A |
6: 148,314,328 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,014,617 (GRCm39) |
D264G |
possibly damaging |
Het |
Trim43a |
T |
A |
9: 88,466,213 (GRCm39) |
I178N |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,537,437 (GRCm39) |
I26503M |
possibly damaging |
Het |
Usp28 |
C |
A |
9: 48,950,323 (GRCm39) |
D589E |
probably benign |
Het |
Utp23 |
T |
C |
15: 51,745,907 (GRCm39) |
S242P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,374,603 (GRCm39) |
Y305C |
probably benign |
Het |
Vwa5b1 |
C |
A |
4: 138,336,169 (GRCm39) |
E142* |
probably null |
Het |
Xrn2 |
A |
T |
2: 146,871,699 (GRCm39) |
T374S |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,488 (GRCm39) |
Q144L |
probably benign |
Het |
|
Other mutations in Ppp4r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00827:Ppp4r4
|
APN |
12 |
103,545,335 (GRCm39) |
missense |
probably benign |
|
IGL01388:Ppp4r4
|
APN |
12 |
103,543,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01662:Ppp4r4
|
APN |
12 |
103,569,225 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01768:Ppp4r4
|
APN |
12 |
103,547,664 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01894:Ppp4r4
|
APN |
12 |
103,559,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01921:Ppp4r4
|
APN |
12 |
103,542,569 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
IGL01960:Ppp4r4
|
APN |
12 |
103,547,753 (GRCm39) |
splice site |
probably benign |
|
IGL02084:Ppp4r4
|
APN |
12 |
103,566,657 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02287:Ppp4r4
|
APN |
12 |
103,553,747 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02315:Ppp4r4
|
APN |
12 |
103,566,620 (GRCm39) |
splice site |
probably benign |
|
IGL03137:Ppp4r4
|
APN |
12 |
103,547,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03170:Ppp4r4
|
APN |
12 |
103,557,033 (GRCm39) |
intron |
probably benign |
|
cataract
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
downfall
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
R0390:Ppp4r4
|
UTSW |
12 |
103,567,619 (GRCm39) |
splice site |
probably benign |
|
R0403:Ppp4r4
|
UTSW |
12 |
103,550,361 (GRCm39) |
missense |
probably benign |
|
R0548:Ppp4r4
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
R0601:Ppp4r4
|
UTSW |
12 |
103,566,779 (GRCm39) |
splice site |
probably benign |
|
R0894:Ppp4r4
|
UTSW |
12 |
103,566,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R1127:Ppp4r4
|
UTSW |
12 |
103,545,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1177:Ppp4r4
|
UTSW |
12 |
103,542,582 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1378:Ppp4r4
|
UTSW |
12 |
103,547,751 (GRCm39) |
splice site |
probably benign |
|
R1442:Ppp4r4
|
UTSW |
12 |
103,564,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R1497:Ppp4r4
|
UTSW |
12 |
103,573,204 (GRCm39) |
missense |
probably benign |
0.07 |
R1651:Ppp4r4
|
UTSW |
12 |
103,550,331 (GRCm39) |
missense |
probably benign |
0.01 |
R1797:Ppp4r4
|
UTSW |
12 |
103,564,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1880:Ppp4r4
|
UTSW |
12 |
103,571,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2008:Ppp4r4
|
UTSW |
12 |
103,552,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Ppp4r4
|
UTSW |
12 |
103,542,539 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2404:Ppp4r4
|
UTSW |
12 |
103,547,749 (GRCm39) |
splice site |
probably null |
|
R2696:Ppp4r4
|
UTSW |
12 |
103,547,653 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2849:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
R2965:Ppp4r4
|
UTSW |
12 |
103,579,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R3030:Ppp4r4
|
UTSW |
12 |
103,573,215 (GRCm39) |
missense |
probably benign |
|
R3805:Ppp4r4
|
UTSW |
12 |
103,566,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R3862:Ppp4r4
|
UTSW |
12 |
103,562,680 (GRCm39) |
nonsense |
probably null |
|
R4194:Ppp4r4
|
UTSW |
12 |
103,524,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Ppp4r4
|
UTSW |
12 |
103,564,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4558:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4783:Ppp4r4
|
UTSW |
12 |
103,557,117 (GRCm39) |
critical splice donor site |
probably null |
|
R4866:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4903:Ppp4r4
|
UTSW |
12 |
103,557,030 (GRCm39) |
splice site |
probably null |
|
R5309:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
R5312:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
R5381:Ppp4r4
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
R5383:Ppp4r4
|
UTSW |
12 |
103,550,427 (GRCm39) |
missense |
probably benign |
0.14 |
R5447:Ppp4r4
|
UTSW |
12 |
103,550,410 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5942:Ppp4r4
|
UTSW |
12 |
103,553,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6339:Ppp4r4
|
UTSW |
12 |
103,571,228 (GRCm39) |
nonsense |
probably null |
|
R6386:Ppp4r4
|
UTSW |
12 |
103,559,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6712:Ppp4r4
|
UTSW |
12 |
103,562,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R6755:Ppp4r4
|
UTSW |
12 |
103,551,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6868:Ppp4r4
|
UTSW |
12 |
103,557,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Ppp4r4
|
UTSW |
12 |
103,518,179 (GRCm39) |
splice site |
probably null |
|
R7355:Ppp4r4
|
UTSW |
12 |
103,570,841 (GRCm39) |
nonsense |
probably null |
|
R7397:Ppp4r4
|
UTSW |
12 |
103,579,065 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7447:Ppp4r4
|
UTSW |
12 |
103,551,985 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7576:Ppp4r4
|
UTSW |
12 |
103,562,708 (GRCm39) |
missense |
probably damaging |
0.97 |
R7653:Ppp4r4
|
UTSW |
12 |
103,550,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R7683:Ppp4r4
|
UTSW |
12 |
103,553,364 (GRCm39) |
nonsense |
probably null |
|
R7748:Ppp4r4
|
UTSW |
12 |
103,571,320 (GRCm39) |
critical splice donor site |
probably null |
|
R7831:Ppp4r4
|
UTSW |
12 |
103,557,080 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7833:Ppp4r4
|
UTSW |
12 |
103,564,407 (GRCm39) |
missense |
probably benign |
0.03 |
R8238:Ppp4r4
|
UTSW |
12 |
103,557,066 (GRCm39) |
missense |
probably benign |
0.20 |
R8559:Ppp4r4
|
UTSW |
12 |
103,559,420 (GRCm39) |
missense |
probably benign |
0.04 |
R8674:Ppp4r4
|
UTSW |
12 |
103,562,720 (GRCm39) |
missense |
probably damaging |
0.97 |
R8799:Ppp4r4
|
UTSW |
12 |
103,567,623 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8847:Ppp4r4
|
UTSW |
12 |
103,562,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
probably benign |
0.00 |
R9075:Ppp4r4
|
UTSW |
12 |
103,570,290 (GRCm39) |
nonsense |
probably null |
|
R9106:Ppp4r4
|
UTSW |
12 |
103,570,315 (GRCm39) |
missense |
probably benign |
0.01 |
R9393:Ppp4r4
|
UTSW |
12 |
103,571,296 (GRCm39) |
nonsense |
probably null |
|
R9508:Ppp4r4
|
UTSW |
12 |
103,542,561 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9520:Ppp4r4
|
UTSW |
12 |
103,500,378 (GRCm39) |
missense |
probably benign |
0.00 |
R9636:Ppp4r4
|
UTSW |
12 |
103,564,688 (GRCm39) |
missense |
unknown |
|
R9641:Ppp4r4
|
UTSW |
12 |
103,567,811 (GRCm39) |
missense |
probably benign |
0.15 |
R9765:Ppp4r4
|
UTSW |
12 |
103,550,346 (GRCm39) |
nonsense |
probably null |
|
R9766:Ppp4r4
|
UTSW |
12 |
103,562,735 (GRCm39) |
missense |
probably benign |
0.40 |
X0025:Ppp4r4
|
UTSW |
12 |
103,566,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGTGCGTCCATAACCTTGGCTC -3'
(R):5'- TGCGACATGCTAGGTTAAACACCTC -3'
Sequencing Primer
(F):5'- GTCCATAACCTTGGCTCTTATAAC -3'
(R):5'- CTAGGTTAAACACCTCAGGGGC -3'
|
Posted On |
2013-04-11 |