Incidental Mutation 'R6755:Ppp4r4'
| ID |
531030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
044871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103551996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 81
(V81E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190664]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021631
AA Change: V297E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: V297E
| 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 damaging
Transcript: ENSMUST00000187155
AA Change: V188E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: V188E
| 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 damaging
Transcript: ENSMUST00000189871
AA Change: V297E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: V297E
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190664
AA Change: V81E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
AA Change: V81E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
38 |
68 |
5.8e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,475,994 (GRCm39) |
T1101M |
probably benign |
Het |
| 4930433I11Rik |
T |
C |
7: 40,643,734 (GRCm39) |
S468P |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,895,069 (GRCm39) |
V637A |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,124,004 (GRCm39) |
V1228M |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,893,812 (GRCm39) |
V848F |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| B4galt6 |
T |
C |
18: 20,822,386 (GRCm39) |
E264G |
probably benign |
Het |
| Bpifb4 |
A |
G |
2: 153,799,658 (GRCm39) |
T556A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,938,082 (GRCm39) |
S64T |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,826,817 (GRCm39) |
S467P |
probably benign |
Het |
| Cables1 |
G |
T |
18: 12,072,882 (GRCm39) |
S479I |
probably null |
Het |
| Cbl |
T |
C |
9: 44,084,671 (GRCm39) |
I155V |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,880 (GRCm39) |
D297G |
probably damaging |
Het |
| Cdk8 |
T |
A |
5: 146,205,126 (GRCm39) |
H102Q |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,149 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,849,609 (GRCm39) |
H109Q |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,490 (GRCm39) |
E299G |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,893 (GRCm39) |
E150G |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,246,405 (GRCm39) |
L499S |
possibly damaging |
Het |
| Fgf10 |
C |
A |
13: 118,925,821 (GRCm39) |
A200D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,691,915 (GRCm39) |
E407G |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,556,891 (GRCm39) |
V232A |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,342 (GRCm39) |
K1214* |
probably null |
Het |
| Il20ra |
T |
C |
10: 19,626,542 (GRCm39) |
Y189H |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,996 (GRCm39) |
I69N |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,398,199 (GRCm39) |
D675G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,786 (GRCm39) |
D387V |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,292 (GRCm39) |
N108D |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,841,847 (GRCm39) |
E944V |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 93,685,158 (GRCm39) |
S740N |
probably damaging |
Het |
| Med26 |
A |
G |
8: 73,249,677 (GRCm39) |
I474T |
probably damaging |
Het |
| Mgst1 |
T |
A |
6: 138,124,770 (GRCm39) |
M68K |
probably damaging |
Het |
| Myh7 |
G |
A |
14: 55,229,770 (GRCm39) |
A91V |
possibly damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,580,216 (GRCm39) |
V450I |
probably benign |
Het |
| Nup160 |
T |
G |
2: 90,530,800 (GRCm39) |
F486C |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,141,953 (GRCm39) |
T364A |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,152 (GRCm39) |
Y1602N |
probably damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,389,707 (GRCm39) |
T247S |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,689,164 (GRCm39) |
Y955* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pianp |
T |
C |
6: 124,976,347 (GRCm39) |
V52A |
probably benign |
Het |
| Plekhh2 |
T |
C |
17: 84,899,013 (GRCm39) |
Y997H |
probably damaging |
Het |
| Plekhm1 |
G |
T |
11: 103,278,069 (GRCm39) |
S342R |
possibly damaging |
Het |
| Poglut2 |
C |
T |
1: 44,149,894 (GRCm39) |
|
probably null |
Het |
| Pramel52-ps |
A |
G |
5: 94,529,268 (GRCm39) |
T13A |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,657 (GRCm39) |
T16A |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,218,855 (GRCm39) |
L445Q |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,374,717 (GRCm39) |
F751L |
possibly damaging |
Het |
| Sap18 |
A |
C |
14: 58,039,474 (GRCm39) |
D153A |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,194,235 (GRCm39) |
G10D |
probably benign |
Het |
| Snx32 |
T |
C |
19: 5,560,372 (GRCm39) |
N10D |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,261,677 (GRCm39) |
T180A |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,301,192 (GRCm39) |
K78R |
probably damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,567 (GRCm39) |
D24G |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,344,732 (GRCm39) |
I153N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,445,991 (GRCm39) |
Q308R |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,471 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
C |
15: 99,300,034 (GRCm39) |
V50A |
probably benign |
Het |
| Tmem107 |
T |
C |
11: 68,961,837 (GRCm39) |
V22A |
probably damaging |
Het |
| Ttc12 |
T |
C |
9: 49,364,646 (GRCm39) |
I377V |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,262,316 (GRCm39) |
N310I |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,175,416 (GRCm39) |
N1171K |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,574,831 (GRCm39) |
V1032E |
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 |
|
R0114:Ppp4r4
|
UTSW |
12 |
103,542,633 (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 |
|
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'- GTCCAAAGTCACAGTTTCTGGTG -3'
(R):5'- TAAGGCTGCGCACACTTGAG -3'
Sequencing Primer
(F):5'- CAAAGTCACAGTTTCTGGTGATCTC -3'
(R):5'- CTTGAGAGCAAGTTGAACAAAAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation