Incidental Mutation 'R2411:Ppp2r3c'
| ID |
250006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r3c
|
| Ensembl Gene |
ENSMUSG00000021022 |
| Gene Name |
protein phosphatase 2, regulatory subunit B'', gamma |
| Synonyms |
G5pr, G4-1, 4930511A21Rik, 5730412A08Rik |
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
55327594-55350024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55345269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 73
(K73R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021410]
[ENSMUST00000021411]
[ENSMUST00000183475]
[ENSMUST00000183654]
[ENSMUST00000184766]
[ENSMUST00000184980]
|
| AlphaFold |
Q9JK24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021410
AA Change: K73R
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022
AA Change: K73R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4I5K|B
|
188 |
437 |
1e-25 |
PDB |
|
SCOP:d1dgua_
|
258 |
413 |
4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021411
|
| SMART Domains |
Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183475
|
| SMART Domains |
Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
410 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183654
|
| SMART Domains |
Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_Zc3h12a
|
33 |
185 |
8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184766
|
| SMART Domains |
Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4G26|A
|
153 |
581 |
1e-9 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184980
|
| SMART Domains |
Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218116
|
| Meta Mutation Damage Score |
0.2452 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
Het |
|
| Other mutations in Ppp2r3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Ppp2r3c
|
APN |
12 |
55,339,283 (GRCm39) |
splice site |
probably null |
|
|
IGL01122:Ppp2r3c
|
APN |
12 |
55,344,587 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01954:Ppp2r3c
|
APN |
12 |
55,339,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Ppp2r3c
|
APN |
12 |
55,345,192 (GRCm39) |
unclassified |
probably benign |
|
|
R0045:Ppp2r3c
|
UTSW |
12 |
55,340,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0129:Ppp2r3c
|
UTSW |
12 |
55,345,207 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4468:Ppp2r3c
|
UTSW |
12 |
55,344,668 (GRCm39) |
nonsense |
probably null |
|
|
R4746:Ppp2r3c
|
UTSW |
12 |
55,349,420 (GRCm39) |
splice site |
probably null |
|
|
R5499:Ppp2r3c
|
UTSW |
12 |
55,335,411 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5724:Ppp2r3c
|
UTSW |
12 |
55,344,617 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6724:Ppp2r3c
|
UTSW |
12 |
55,335,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6776:Ppp2r3c
|
UTSW |
12 |
55,345,252 (GRCm39) |
nonsense |
probably null |
|
|
R7706:Ppp2r3c
|
UTSW |
12 |
55,328,490 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8111:Ppp2r3c
|
UTSW |
12 |
55,344,634 (GRCm39) |
missense |
probably benign |
|
|
R8698:Ppp2r3c
|
UTSW |
12 |
55,328,499 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8892:Ppp2r3c
|
UTSW |
12 |
55,336,453 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9349:Ppp2r3c
|
UTSW |
12 |
55,345,268 (GRCm39) |
missense |
probably benign |
0.36 |
|
RF006:Ppp2r3c
|
UTSW |
12 |
55,340,600 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCACACACTCTGCTTCAG -3'
(R):5'- CCCCTCTTTTGAGCTGGTGG -3'
Sequencing Primer
(F):5'- TGCTTCAGACACCTACGCAGTG -3'
(R):5'- TCACCCAGACTGTTAAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation