Incidental Mutation 'R9393:Ppp4r4'
| ID |
710698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 103571296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 787
(Y787*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190151]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021631
AA Change: Y787*
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: Y787*
| 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
AA Change: Y678*
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: Y678*
| 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: ENSMUST00000190151
|
| SMART Domains |
Protein: ENSMUSP00000139815
Gene: ENSMUSG00000021209
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
114 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,616,270 (GRCm39) |
S133G |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,735,256 (GRCm39) |
E567G |
possibly damaging |
Het |
| Ak9 |
T |
C |
10: 41,285,068 (GRCm39) |
I1381T |
unknown |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
T |
A |
7: 99,238,891 (GRCm39) |
C150S |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,330 (GRCm39) |
I450V |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,063,608 (GRCm39) |
N181S |
probably damaging |
Het |
| Bptf |
A |
C |
11: 106,965,134 (GRCm39) |
D1353E |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc106 |
T |
A |
7: 5,059,200 (GRCm39) |
I6N |
possibly damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,525 (GRCm39) |
Q252L |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,360,598 (GRCm39) |
K212* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,632 (GRCm39) |
S166G |
probably benign |
Het |
| Cyp2w1 |
A |
G |
5: 139,342,035 (GRCm39) |
E123G |
probably benign |
Het |
| Cyp4a10 |
G |
C |
4: 115,382,566 (GRCm39) |
K285N |
probably damaging |
Het |
| Cyth1 |
G |
T |
11: 118,074,710 (GRCm39) |
T197K |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,685 (GRCm39) |
W262R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,872,361 (GRCm39) |
V450D |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,842,433 (GRCm39) |
V222I |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,873 (GRCm39) |
S15P |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,831,463 (GRCm39) |
Q24* |
probably null |
Het |
| Fignl2 |
C |
A |
15: 100,951,466 (GRCm39) |
R272L |
unknown |
Het |
| Gm10842 |
A |
T |
11: 105,037,885 (GRCm39) |
D56V |
unknown |
Het |
| Gmps |
T |
A |
3: 63,900,640 (GRCm39) |
N305K |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,565,055 (GRCm39) |
L38Q |
|
Het |
| Golim4 |
A |
T |
3: 75,785,464 (GRCm39) |
D642E |
probably benign |
Het |
| Gp1ba |
A |
T |
11: 70,531,293 (GRCm39) |
Q353L |
unknown |
Het |
| Gpnmb |
T |
C |
6: 49,024,996 (GRCm39) |
S343P |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,313,336 (GRCm39) |
R507* |
probably null |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,330,350 (GRCm39) |
Y585C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,853,981 (GRCm39) |
D795E |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,729,392 (GRCm39) |
V309E |
probably benign |
Het |
| Krtap9-1 |
C |
A |
11: 99,764,664 (GRCm39) |
C133* |
probably null |
Het |
| Krtcap2 |
T |
C |
3: 89,153,578 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,240,758 (GRCm39) |
M1T |
probably null |
Het |
| Magi1 |
G |
A |
6: 93,659,890 (GRCm39) |
T1019I |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,713,825 (GRCm39) |
H1967Q |
|
Het |
| Mgat4f |
A |
G |
1: 134,318,596 (GRCm39) |
D456G |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,980,666 (GRCm39) |
T1412S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,962,682 (GRCm39) |
T373A |
possibly damaging |
Het |
| Noc2l |
T |
C |
4: 156,320,784 (GRCm39) |
|
probably null |
Het |
| Nrg4 |
C |
T |
9: 55,149,420 (GRCm39) |
S59N |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,255 (GRCm39) |
V93A |
probably benign |
Het |
| Or9k2 |
T |
C |
10: 129,999,016 (GRCm39) |
T60A |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,840,212 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,475,955 (GRCm39) |
N196S |
probably damaging |
Het |
| Psma8 |
G |
A |
18: 14,839,298 (GRCm39) |
R4Q |
probably null |
Het |
| Reg4 |
A |
G |
3: 98,137,168 (GRCm39) |
K46E |
probably benign |
Het |
| Rnf14 |
T |
A |
18: 38,442,680 (GRCm39) |
M327K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,263,586 (GRCm39) |
Y753* |
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,259,627 (GRCm39) |
R275G |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,518,656 (GRCm39) |
T527A |
possibly damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
C |
T |
4: 152,116,413 (GRCm39) |
C407Y |
probably damaging |
Het |
| Tcstv1b |
A |
T |
13: 120,634,958 (GRCm39) |
Y80F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,127,559 (GRCm39) |
S40P |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,183,066 (GRCm39) |
S4T |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,599,547 (GRCm39) |
N511S |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,754,211 (GRCm39) |
I1014T |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,774,990 (GRCm39) |
M20K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,390 (GRCm39) |
V17199A |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,703,411 (GRCm39) |
Y305H |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,212,613 (GRCm39) |
V5081E |
unknown |
Het |
| Unkl |
T |
C |
17: 25,448,392 (GRCm39) |
S322P |
probably damaging |
Het |
| Uqcc6 |
A |
G |
10: 82,458,475 (GRCm39) |
S59P |
unknown |
Het |
| Vav3 |
T |
A |
3: 109,485,682 (GRCm39) |
|
probably null |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,765 (GRCm39) |
S150P |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,445,600 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
A |
G |
7: 117,242,906 (GRCm39) |
I650V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,403,682 (GRCm39) |
A3955S |
unknown |
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 |
|
|
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 |
|
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'- GACAGTTATTCTAGTCAGCTCAAACTG -3'
(R):5'- GAGGTATGGACAGCATAGTCTG -3'
Sequencing Primer
(F):5'- TCTAGTCAGCTCAAACTGAGAAG -3'
(R):5'- GCATAGTCTGCCTTTCTCATAAATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation