Incidental Mutation 'R2038:Ppp4r4'
| ID |
225347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 103542539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000187155]
[ENSMUST00000187155]
[ENSMUST00000187155]
[ENSMUST00000189871]
[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 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 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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
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 |
|
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 |
|
|
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'- CCTGTAAATCAAGAGAATGTTACCC -3'
(R):5'- AACATGAACGACTGTCACCG -3'
Sequencing Primer
(F):5'- CCTAGAAATTTATCATCTAACGAG -3'
(R):5'- ACGACTGTCACCGGGCATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation