Incidental Mutation 'IGL01947:Ppp6r2'
| ID |
181264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp6r2
|
| Ensembl Gene |
ENSMUSG00000036561 |
| Gene Name |
protein phosphatase 6, regulatory subunit 2 |
| Synonyms |
Pp6r2, 8430411H09Rik, 1110033O10Rik, B230107H12Rik, Saps2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89095756-89171213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89162929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 517
(W517L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088788]
[ENSMUST00000228284]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088788
AA Change: W517L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: W517L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAPS
|
128 |
365 |
1.7e-73 |
PFAM |
|
Pfam:SAPS
|
361 |
534 |
2.4e-47 |
PFAM |
|
low complexity region
|
606 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
900 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226967
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228284
AA Change: W517L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
| Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
| Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
| Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
| Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
| Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
| Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
| Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
| Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
| Other mutations in Ppp6r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Ppp6r2
|
APN |
15 |
89,170,016 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL00480:Ppp6r2
|
APN |
15 |
89,149,452 (GRCm39) |
splice site |
probably benign |
|
|
IGL01061:Ppp6r2
|
APN |
15 |
89,170,218 (GRCm39) |
splice site |
probably benign |
|
|
IGL01116:Ppp6r2
|
APN |
15 |
89,166,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Ppp6r2
|
APN |
15 |
89,170,131 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01969:Ppp6r2
|
APN |
15 |
89,159,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Ppp6r2
|
APN |
15 |
89,154,155 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02634:Ppp6r2
|
APN |
15 |
89,159,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL02697:Ppp6r2
|
APN |
15 |
89,140,958 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02964:Ppp6r2
|
APN |
15 |
89,143,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Ppp6r2
|
APN |
15 |
89,152,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03195:Ppp6r2
|
APN |
15 |
89,152,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0020:Ppp6r2
|
UTSW |
15 |
89,143,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Ppp6r2
|
UTSW |
15 |
89,143,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Ppp6r2
|
UTSW |
15 |
89,169,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0745:Ppp6r2
|
UTSW |
15 |
89,149,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0835:Ppp6r2
|
UTSW |
15 |
89,152,785 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0959:Ppp6r2
|
UTSW |
15 |
89,158,379 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1661:Ppp6r2
|
UTSW |
15 |
89,137,254 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1867:Ppp6r2
|
UTSW |
15 |
89,166,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2081:Ppp6r2
|
UTSW |
15 |
89,166,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2102:Ppp6r2
|
UTSW |
15 |
89,162,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Ppp6r2
|
UTSW |
15 |
89,159,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2900:Ppp6r2
|
UTSW |
15 |
89,166,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3805:Ppp6r2
|
UTSW |
15 |
89,149,842 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3965:Ppp6r2
|
UTSW |
15 |
89,143,317 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4374:Ppp6r2
|
UTSW |
15 |
89,149,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Ppp6r2
|
UTSW |
15 |
89,143,272 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5055:Ppp6r2
|
UTSW |
15 |
89,167,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5668:Ppp6r2
|
UTSW |
15 |
89,164,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Ppp6r2
|
UTSW |
15 |
89,143,276 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6026:Ppp6r2
|
UTSW |
15 |
89,167,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Ppp6r2
|
UTSW |
15 |
89,137,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6488:Ppp6r2
|
UTSW |
15 |
89,152,741 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6631:Ppp6r2
|
UTSW |
15 |
89,137,458 (GRCm39) |
splice site |
probably null |
|
|
R6633:Ppp6r2
|
UTSW |
15 |
89,137,458 (GRCm39) |
splice site |
probably null |
|
|
R6744:Ppp6r2
|
UTSW |
15 |
89,140,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7149:Ppp6r2
|
UTSW |
15 |
89,146,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Ppp6r2
|
UTSW |
15 |
89,140,904 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8326:Ppp6r2
|
UTSW |
15 |
89,164,650 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8812:Ppp6r2
|
UTSW |
15 |
89,167,275 (GRCm39) |
missense |
probably benign |
|
|
R8861:Ppp6r2
|
UTSW |
15 |
89,143,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Ppp6r2
|
UTSW |
15 |
89,137,239 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9224:Ppp6r2
|
UTSW |
15 |
89,146,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Ppp6r2
|
UTSW |
15 |
89,152,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation