Incidental Mutation 'R6339:Ppp4r4'
| ID |
513840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
044493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R6339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 103571228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 656
(K656*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190151]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021631
AA Change: K765*
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: K765*
| 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: K656*
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: K656*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
97% (69/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933424G06Rik |
A |
T |
1: 36,749,542 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,310,091 (GRCm39) |
S743R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,624,460 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,877 (GRCm39) |
M377T |
probably benign |
Het |
| Ap1g1 |
G |
A |
8: 110,571,000 (GRCm39) |
V425I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,066,188 (GRCm39) |
R4353W |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,423 (GRCm39) |
K540R |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,640 (GRCm39) |
T259S |
possibly damaging |
Het |
| Btbd8 |
G |
A |
5: 107,651,583 (GRCm39) |
V159I |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,224,788 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,661,234 (GRCm39) |
T1115S |
probably damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,803 (GRCm39) |
G181D |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
| Cpt1a |
A |
C |
19: 3,412,152 (GRCm39) |
D208A |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,141,754 (GRCm39) |
E1183G |
probably benign |
Het |
| Defa39 |
G |
A |
8: 22,193,485 (GRCm39) |
S45F |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,208,128 (GRCm39) |
H1003L |
probably damaging |
Het |
| Dok2 |
A |
T |
14: 71,013,158 (GRCm39) |
I109L |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,285,111 (GRCm39) |
I465K |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,639 (GRCm39) |
D2838V |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,644 (GRCm39) |
R646G |
possibly damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,923,477 (GRCm39) |
F514I |
probably damaging |
Het |
| Gm8104 |
T |
C |
14: 42,958,942 (GRCm39) |
M44T |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,750 (GRCm39) |
W334R |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,235,002 (GRCm39) |
F443I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,413,927 (GRCm39) |
V1467A |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,444,289 (GRCm39) |
D44E |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,016 (GRCm39) |
A464V |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,481 (GRCm39) |
E188G |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,019,123 (GRCm39) |
V710A |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,359,693 (GRCm39) |
F228I |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,530 (GRCm39) |
N238S |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,797,505 (GRCm39) |
H414Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,319,794 (GRCm39) |
C219R |
probably benign |
Het |
| Mepce |
A |
T |
5: 137,783,950 (GRCm39) |
N125K |
possibly damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,598 (GRCm39) |
F193S |
probably damaging |
Het |
| Miox |
T |
A |
15: 89,219,702 (GRCm39) |
Y63* |
probably null |
Het |
| Msl2 |
A |
T |
9: 100,978,949 (GRCm39) |
H441L |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,680,069 (GRCm39) |
S98T |
possibly damaging |
Het |
| Neto2 |
G |
T |
8: 86,367,187 (GRCm39) |
A547E |
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,825,033 (GRCm39) |
|
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,845,361 (GRCm39) |
I504V |
probably damaging |
Het |
| Or4c106 |
A |
G |
2: 88,683,215 (GRCm39) |
D307G |
probably null |
Het |
| Pcdhb3 |
T |
C |
18: 37,433,998 (GRCm39) |
|
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,827 (GRCm39) |
G720W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,344,834 (GRCm39) |
D151E |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,193,016 (GRCm39) |
N217I |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,474 (GRCm39) |
L272F |
probably damaging |
Het |
| Prr22 |
G |
A |
17: 57,078,490 (GRCm39) |
M214I |
probably benign |
Het |
| Ror1 |
G |
T |
4: 100,269,128 (GRCm39) |
R322L |
possibly damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,108,642 (GRCm39) |
W244* |
probably null |
Het |
| Slamf6 |
A |
G |
1: 171,775,615 (GRCm39) |
N320S |
probably null |
Het |
| Slc1a6 |
A |
C |
10: 78,635,919 (GRCm39) |
D328A |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,881,038 (GRCm39) |
T2161K |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,721,586 (GRCm39) |
D1198V |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,375 (GRCm39) |
F98S |
probably damaging |
Het |
| Stk33 |
A |
T |
7: 108,920,672 (GRCm39) |
D348E |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,908,664 (GRCm39) |
L559Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,927 (GRCm39) |
D3738G |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,366,095 (GRCm39) |
Q382L |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,192,178 (GRCm39) |
H752L |
possibly damaging |
Het |
| Tia1 |
A |
C |
6: 86,403,638 (GRCm39) |
K285T |
probably damaging |
Het |
| Tle3 |
G |
T |
9: 61,309,206 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,537,505 (GRCm39) |
T414A |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,406 (GRCm39) |
I307N |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,124 (GRCm39) |
D266V |
possibly damaging |
Het |
| Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
| Zfp456 |
T |
A |
13: 67,510,483 (GRCm39) |
K102* |
probably null |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
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'- TGCCAGTTTGAATATGATCTTAGCC -3'
(R):5'- GAGGTATGGACAGCATAGTCTG -3'
Sequencing Primer
(F):5'- TTGAATATGATCTTAGCCTTTTCCAG -3'
(R):5'- GCATAGTCTGCCTTTCTCATAAATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation