Incidental Mutation 'R4903:Ppp4r4'
| ID |
377976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
042506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R4903 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 103557030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190664]
|
| 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 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 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190664
|
| SMART Domains |
Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
38 |
68 |
5.8e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,037,827 (GRCm39) |
Y508H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,546,691 (GRCm39) |
L1347H |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,627,817 (GRCm39) |
I207M |
possibly damaging |
Het |
| Akna |
C |
A |
4: 63,292,274 (GRCm39) |
R1130S |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,743 (GRCm39) |
I194N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,176,558 (GRCm39) |
H1582L |
probably damaging |
Het |
| Atn1 |
G |
C |
6: 124,720,220 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
T |
C |
16: 8,478,864 (GRCm39) |
T130A |
probably damaging |
Het |
| Chrna3 |
T |
C |
9: 54,922,810 (GRCm39) |
T333A |
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,310,945 (GRCm39) |
I34L |
probably benign |
Het |
| Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
| Dars2 |
G |
C |
1: 160,878,941 (GRCm39) |
P362R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,894,812 (GRCm39) |
E3459G |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,771,437 (GRCm39) |
D188N |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,449,972 (GRCm39) |
R189* |
probably null |
Het |
| Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,163 (GRCm39) |
I51N |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,418,413 (GRCm39) |
I603V |
probably benign |
Het |
| Gm11564 |
A |
C |
11: 99,705,858 (GRCm39) |
C191G |
unknown |
Het |
| Gpatch8 |
A |
G |
11: 102,370,959 (GRCm39) |
S860P |
unknown |
Het |
| Gprin1 |
C |
G |
13: 54,885,742 (GRCm39) |
W844S |
probably damaging |
Het |
| Hhipl2 |
T |
A |
1: 183,207,698 (GRCm39) |
Y252* |
probably null |
Het |
| Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
G |
16: 22,779,901 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
C |
T |
8: 72,947,372 (GRCm39) |
A23V |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,252,436 (GRCm39) |
S129G |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,949,456 (GRCm39) |
E1579K |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,049,789 (GRCm39) |
I579N |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,832,482 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
C |
A |
9: 57,046,240 (GRCm39) |
Q465K |
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,994,235 (GRCm39) |
L1043Q |
probably null |
Het |
| Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,183 (GRCm39) |
S946P |
probably benign |
Het |
| Mrpl50 |
T |
C |
4: 49,514,488 (GRCm39) |
Y61C |
probably damaging |
Het |
| Myf5 |
A |
T |
10: 107,321,733 (GRCm39) |
C20* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,921 (GRCm39) |
K163R |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,383 (GRCm39) |
H53L |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,342 (GRCm39) |
I276L |
probably benign |
Het |
| Pcdhga9 |
C |
A |
18: 37,872,058 (GRCm39) |
T629K |
probably damaging |
Het |
| Pglyrp1 |
A |
G |
7: 18,624,128 (GRCm39) |
N137S |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,668 (GRCm39) |
Y6F |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,790,976 (GRCm39) |
V1057G |
probably benign |
Het |
| Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,532,093 (GRCm39) |
M586K |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,616,357 (GRCm39) |
C278Y |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
| Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,613,125 (GRCm39) |
K401E |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,378 (GRCm39) |
Y194H |
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,802,117 (GRCm39) |
Y585N |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
| Shbg |
C |
T |
11: 69,505,912 (GRCm39) |
S365N |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,730,925 (GRCm39) |
S65T |
probably damaging |
Het |
| Stk3 |
T |
C |
15: 34,959,212 (GRCm39) |
E320G |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,765,117 (GRCm39) |
H81Q |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,658,437 (GRCm39) |
W1470R |
probably damaging |
Het |
| Thada |
C |
A |
17: 84,559,828 (GRCm39) |
V1450L |
possibly damaging |
Het |
| Tmem241 |
A |
G |
18: 12,237,176 (GRCm39) |
S87P |
probably damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,194,117 (GRCm39) |
E192G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,853,065 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,367,962 (GRCm39) |
D35G |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,322 (GRCm39) |
V210A |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,747,201 (GRCm39) |
I680N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl4a |
T |
C |
18: 80,250,493 (GRCm39) |
F30L |
probably damaging |
Het |
| Ubac2 |
G |
T |
14: 122,231,650 (GRCm39) |
C192F |
probably benign |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,502 (GRCm39) |
T156A |
possibly damaging |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,578 (GRCm39) |
T175S |
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 |
|
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'- TGAAGAAGTCCTGGCTCTGG -3'
(R):5'- TTGCCAATGACACAGTGACACAG -3'
Sequencing Primer
(F):5'- GGAACCCATCTTTTGTAGGTGCC -3'
(R):5'- AGGCACTGACATAATTTAGCTTAAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation