Incidental Mutation 'R9766:Ppp4r4'
| ID |
733293 |
| 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: 0.134)
|
| Stock # |
R9766 (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 C
at 103562735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 568
(V568A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190151]
[ENSMUST00000190664]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021631
AA Change: V568A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: V568A
| 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: V459A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: V459A
| 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: V568A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: V568A
| 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 |
|
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,788 (GRCm39) |
V59A |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,902,565 (GRCm39) |
H610Q |
probably benign |
Het |
| Acox1 |
G |
A |
11: 116,071,867 (GRCm39) |
A187V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,177 (GRCm39) |
Y195C |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,570 (GRCm39) |
R76W |
probably damaging |
Het |
| Anapc1 |
C |
T |
2: 128,500,221 (GRCm39) |
R808Q |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,067 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,921,148 (GRCm39) |
V113A |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,138 (GRCm39) |
C379R |
unknown |
Het |
| Bltp3a |
T |
C |
17: 28,105,799 (GRCm39) |
L775P |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,800,982 (GRCm39) |
I371V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,833,096 (GRCm39) |
E281V |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,946,031 (GRCm39) |
Y171N |
probably damaging |
Het |
| Cib3 |
A |
T |
8: 72,961,034 (GRCm39) |
F68I |
possibly damaging |
Het |
| Crtac1 |
A |
T |
19: 42,402,557 (GRCm39) |
L17Q |
possibly damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,207 (GRCm39) |
S1682R |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,465,312 (GRCm39) |
G1323D |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,788,483 (GRCm39) |
D161E |
probably benign |
Het |
| Dpep3 |
A |
C |
8: 106,705,369 (GRCm39) |
L127R |
probably damaging |
Het |
| Dus2 |
A |
G |
8: 106,772,568 (GRCm39) |
D226G |
probably damaging |
Het |
| Ebna1bp2 |
T |
C |
4: 118,480,821 (GRCm39) |
V184A |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,648 (GRCm39) |
I348N |
probably damaging |
Het |
| Efcab8 |
A |
T |
2: 153,656,362 (GRCm39) |
M599L |
unknown |
Het |
| Eif2ak4 |
A |
T |
2: 118,261,313 (GRCm39) |
K618* |
probably null |
Het |
| Fbxw27 |
T |
C |
9: 109,602,215 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fgf5 |
A |
G |
5: 98,423,113 (GRCm39) |
E166G |
possibly damaging |
Het |
| Flot1 |
G |
T |
17: 36,141,555 (GRCm39) |
E321* |
probably null |
Het |
| Gm14443 |
T |
C |
2: 175,012,248 (GRCm39) |
E66G |
probably benign |
Het |
| Gprc6a |
G |
A |
10: 51,491,884 (GRCm39) |
P622S |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,876 (GRCm39) |
Y79* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,904,287 (GRCm39) |
S1154P |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,216,367 (GRCm39) |
S24P |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,900,381 (GRCm39) |
D694G |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,624,753 (GRCm39) |
I316T |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,818,077 (GRCm39) |
Q660K |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,153 (GRCm39) |
T6047S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,552,383 (GRCm39) |
T4637S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,078,914 (GRCm39) |
Y891H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,131 (GRCm39) |
D22E |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,954,212 (GRCm39) |
V453E |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,313 (GRCm39) |
Y1744H |
probably damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,647 (GRCm39) |
N385T |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,517 (GRCm39) |
H289L |
possibly damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,158,117 (GRCm39) |
I569T |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,062 (GRCm39) |
G131S |
probably benign |
Het |
| Rasgrf2 |
G |
T |
13: 92,160,188 (GRCm39) |
H396N |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,814,376 (GRCm39) |
T315M |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,400,402 (GRCm39) |
R148L |
probably damaging |
Het |
| Scn11a |
T |
G |
9: 119,584,181 (GRCm39) |
N1478T |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,194 (GRCm39) |
V250I |
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,471,095 (GRCm39) |
T276A |
probably damaging |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
A |
6: 83,534,469 (GRCm39) |
A273S |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,910,881 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
T |
5: 149,386,642 (GRCm39) |
Y232F |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,578 (GRCm39) |
L55P |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,979,630 (GRCm39) |
I755T |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,194,595 (GRCm39) |
Y1163H |
unknown |
Het |
| Usp14 |
G |
A |
18: 10,005,630 (GRCm39) |
T254I |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,247 (GRCm39) |
L2099P |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,042,866 (GRCm39) |
V1962I |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,577,574 (GRCm39) |
T1180A |
probably benign |
Het |
| Zfp644 |
C |
A |
5: 106,784,691 (GRCm39) |
G619C |
probably damaging |
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 |
|
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 |
|
|
X0025:Ppp4r4
|
UTSW |
12 |
103,566,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGTTTGAAAGATAGTGAACAC -3'
(R):5'- AATTCACAAAAGAAGGCTCTGG -3'
Sequencing Primer
(F):5'- GTGAACACTTCTCATTTAGCAATAGC -3'
(R):5'- CACAAAAGAAGGCTCTGGTTAAATAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation