Incidental Mutation 'R7397:Ppp4r4'
ID |
573911 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r4
|
Ensembl Gene |
ENSMUSG00000021209 |
Gene Name |
protein phosphatase 4, regulatory subunit 4 |
Synonyms |
8430415E04Rik |
MMRRC Submission |
045479-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R7397 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 103579065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000044231]
[ENSMUST00000121625]
[ENSMUST00000187155]
[ENSMUST00000189871]
|
AlphaFold |
Q8C0Y0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021631
|
SMART Domains |
Protein: ENSMUSP00000021631 Gene: ENSMUSG00000021209
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: ENSMUST00000044231
|
SMART Domains |
Protein: ENSMUSP00000048357 Gene: ENSMUSG00000061947
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
445 |
2.79e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121625
|
SMART Domains |
Protein: ENSMUSP00000113644 Gene: ENSMUSG00000061947
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
391 |
3.12e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187155
|
SMART Domains |
Protein: ENSMUSP00000140874 Gene: ENSMUSG00000021209
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
|
SMART Domains |
Protein: ENSMUSP00000139786 Gene: ENSMUSG00000021209
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (77/77) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
T |
C |
2: 155,845,848 (GRCm39) |
H3R |
unknown |
Het |
Adam18 |
T |
A |
8: 25,136,321 (GRCm39) |
E400V |
possibly damaging |
Het |
Ak5 |
A |
T |
3: 152,183,989 (GRCm39) |
F473I |
probably damaging |
Het |
Arhgef10l |
G |
A |
4: 140,290,115 (GRCm39) |
P486S |
probably damaging |
Het |
Asphd1 |
T |
A |
7: 126,548,001 (GRCm39) |
R101W |
possibly damaging |
Het |
Bhlha15 |
G |
A |
5: 144,128,223 (GRCm39) |
E112K |
probably damaging |
Het |
C4b |
A |
T |
17: 34,961,364 (GRCm39) |
D198E |
possibly damaging |
Het |
Carmil1 |
G |
T |
13: 24,228,294 (GRCm39) |
P961T |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,554,282 (GRCm39) |
S659P |
possibly damaging |
Het |
Cdh3 |
C |
T |
8: 107,263,241 (GRCm39) |
R97* |
probably null |
Het |
Cep192 |
T |
C |
18: 67,989,268 (GRCm39) |
I1805T |
probably damaging |
Het |
Cep250 |
T |
G |
2: 155,823,331 (GRCm39) |
L995R |
probably damaging |
Het |
Cfap276 |
T |
A |
3: 108,450,864 (GRCm39) |
I102N |
probably benign |
Het |
Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,452,469 (GRCm39) |
K809E |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,130 (GRCm39) |
T1467A |
|
Het |
Ctla2a |
T |
A |
13: 61,083,463 (GRCm39) |
R60S |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,350,014 (GRCm39) |
D22E |
possibly damaging |
Het |
Ctsll3 |
T |
A |
13: 60,948,532 (GRCm39) |
E109V |
probably benign |
Het |
Dgka |
G |
A |
10: 128,556,594 (GRCm39) |
P701S |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,504 (GRCm39) |
I3089F |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,609,816 (GRCm39) |
D208V |
probably benign |
Het |
Fnbp1l |
G |
T |
3: 122,338,286 (GRCm39) |
Q520K |
probably benign |
Het |
Foxc1 |
A |
G |
13: 31,991,618 (GRCm39) |
D143G |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,815,601 (GRCm39) |
R3778Q |
possibly damaging |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
A |
T |
5: 144,969,508 (GRCm39) |
C4S |
probably damaging |
Het |
Gpt |
C |
A |
15: 76,582,717 (GRCm39) |
T294K |
probably benign |
Het |
Hsd17b4 |
G |
T |
18: 50,279,491 (GRCm39) |
G157C |
probably damaging |
Het |
Iars1 |
G |
A |
13: 49,882,153 (GRCm39) |
E1066K |
probably benign |
Het |
Ifih1 |
G |
A |
2: 62,453,832 (GRCm39) |
T260I |
possibly damaging |
Het |
Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
T |
A |
10: 6,922,244 (GRCm39) |
*338R |
probably null |
Het |
Kif20a |
A |
G |
18: 34,760,729 (GRCm39) |
T166A |
probably damaging |
Het |
Map3k1 |
G |
A |
13: 111,891,742 (GRCm39) |
A1171V |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,661,855 (GRCm39) |
F484S |
probably damaging |
Het |
Mbnl1 |
A |
T |
3: 60,523,051 (GRCm39) |
Q180L |
probably benign |
Het |
Mmp2 |
T |
C |
8: 93,562,755 (GRCm39) |
F331L |
possibly damaging |
Het |
Ms4a7 |
G |
T |
19: 11,298,916 (GRCm39) |
H257N |
probably benign |
Het |
Mtbp |
T |
A |
15: 55,432,547 (GRCm39) |
S285T |
probably benign |
Het |
Mtrex |
A |
T |
13: 113,058,220 (GRCm39) |
D70E |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,562,068 (GRCm39) |
N852S |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,510,429 (GRCm39) |
F574Y |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,457,100 (GRCm39) |
I2322T |
possibly damaging |
Het |
Nlrp10 |
A |
G |
7: 108,523,899 (GRCm39) |
L527P |
probably damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,621 (GRCm39) |
W142R |
probably damaging |
Het |
Nxnl1 |
C |
T |
8: 72,019,105 (GRCm39) |
G40D |
probably damaging |
Het |
Or52n1 |
C |
T |
7: 104,382,815 (GRCm39) |
C252Y |
possibly damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,115 (GRCm39) |
T45M |
probably benign |
Het |
Otof |
A |
T |
5: 30,533,051 (GRCm39) |
W1564R |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,850,327 (GRCm39) |
Y778C |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,617,624 (GRCm39) |
|
probably null |
Het |
Pdpr |
T |
A |
8: 111,839,385 (GRCm39) |
N169K |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,762,641 (GRCm39) |
V1379F |
possibly damaging |
Het |
Ppp4r1 |
T |
G |
17: 66,144,786 (GRCm39) |
I801S |
probably benign |
Het |
Prl2c5 |
A |
G |
13: 13,366,327 (GRCm39) |
D202G |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,305,237 (GRCm39) |
T323A |
probably benign |
Het |
Rapgef4 |
T |
C |
2: 72,036,010 (GRCm39) |
M501T |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,729,718 (GRCm39) |
M310T |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,596,047 (GRCm39) |
I81F |
probably benign |
Het |
Rock1 |
C |
T |
18: 10,097,599 (GRCm39) |
A730T |
possibly damaging |
Het |
Rsl1 |
C |
T |
13: 67,330,101 (GRCm39) |
T183I |
possibly damaging |
Het |
Scyl3 |
T |
C |
1: 163,778,487 (GRCm39) |
|
probably null |
Het |
Snap29 |
T |
C |
16: 17,237,236 (GRCm39) |
F116L |
probably damaging |
Het |
Syt5 |
A |
T |
7: 4,545,395 (GRCm39) |
|
probably null |
Het |
Tat |
T |
C |
8: 110,724,200 (GRCm39) |
L363P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,316 (GRCm39) |
V18719A |
possibly damaging |
Het |
Ube2e2 |
T |
A |
14: 18,630,339 (GRCm38) |
D107V |
probably damaging |
Het |
Vmn1r64 |
A |
G |
7: 5,887,013 (GRCm39) |
S177P |
possibly damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,282,947 (GRCm39) |
W214R |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,498 (GRCm39) |
F615I |
probably damaging |
Het |
Vmn2r91 |
G |
T |
17: 18,356,060 (GRCm39) |
V576L |
probably benign |
Het |
Vsig10l |
A |
C |
7: 43,117,431 (GRCm39) |
T573P |
probably damaging |
Het |
Wdr93 |
A |
G |
7: 79,416,172 (GRCm39) |
Q276R |
probably null |
Het |
Zc3h7b |
T |
C |
15: 81,653,354 (GRCm39) |
V86A |
possibly damaging |
Het |
Zeb1 |
T |
A |
18: 5,761,394 (GRCm39) |
Y231N |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,579,944 (GRCm39) |
K390E |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
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 |
|
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'- CCTGATGTGTAATTAATTTCCTCTGCG -3'
(R):5'- CACTCGGATTCAGAGCCTACAG -3'
Sequencing Primer
(F):5'- CCTCTGCGTAAGAATTATCATACTG -3'
(R):5'- GTAAATCGCATGTCATACCTCCTAGG -3'
|
Posted On |
2019-09-13 |