Incidental Mutation 'R0363:Ppip5k1'
ID |
30166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppip5k1
|
Ensembl Gene |
ENSMUSG00000033526 |
Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
Synonyms |
B430315C20Rik, Hisppd2a |
MMRRC Submission |
038569-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R0363 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 121177836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Proline
at position 324
(A324P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000134796]
|
AlphaFold |
A2ARP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052029
AA Change: A324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057632 Gene: ENSMUSG00000033526 AA Change: A324P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
Pfam:His_Phos_2
|
390 |
906 |
8.8e-110 |
PFAM |
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110625
AA Change: A324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106255 Gene: ENSMUSG00000033526 AA Change: A324P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110626
AA Change: A324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106256 Gene: ENSMUSG00000033526 AA Change: A324P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
Pfam:His_Phos_2
|
390 |
906 |
1.1e-135 |
PFAM |
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110627
AA Change: A324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106257 Gene: ENSMUSG00000033526 AA Change: A324P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110628
AA Change: A324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106258 Gene: ENSMUSG00000033526 AA Change: A324P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
Pfam:His_Phos_2
|
390 |
886 |
3.9e-101 |
PFAM |
low complexity region
|
1143 |
1161 |
N/A |
INTRINSIC |
coiled coil region
|
1382 |
1410 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140764
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137087
|
SMART Domains |
Protein: ENSMUSP00000115051 Gene: ENSMUSG00000033526
Domain | Start | End | E-Value | Type |
PDB:4NZO|A
|
2 |
67 |
3e-29 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134796
|
Meta Mutation Damage Score |
0.7350 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.5%
|
Validation Efficiency |
98% (78/80) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
T |
A |
4: 109,381,520 (GRCm39) |
Q86L |
probably null |
Het |
Abhd2 |
A |
G |
7: 79,000,561 (GRCm39) |
D262G |
possibly damaging |
Het |
Abhd5 |
T |
C |
9: 122,197,211 (GRCm39) |
F133L |
possibly damaging |
Het |
Agap2 |
T |
A |
10: 126,926,834 (GRCm39) |
V957E |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,676 (GRCm39) |
K919R |
probably damaging |
Het |
Ap1m1 |
T |
C |
8: 73,006,738 (GRCm39) |
S245P |
probably benign |
Het |
Ap1m1 |
T |
C |
8: 73,010,568 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,070,168 (GRCm39) |
Y145C |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,060,136 (GRCm39) |
N2840Y |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,981,027 (GRCm39) |
S327P |
probably damaging |
Het |
Arhgap21 |
C |
A |
2: 20,885,944 (GRCm39) |
R421L |
probably damaging |
Het |
Ccdc85a |
A |
T |
11: 28,533,400 (GRCm39) |
I48N |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,856,244 (GRCm39) |
S672P |
probably damaging |
Het |
Ciz1 |
G |
C |
2: 32,267,375 (GRCm39) |
|
probably null |
Het |
Cmbl |
G |
A |
15: 31,585,588 (GRCm39) |
|
probably null |
Het |
Cmya5 |
A |
G |
13: 93,231,377 (GRCm39) |
V1237A |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,583,143 (GRCm39) |
K1074* |
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,202,193 (GRCm39) |
M347V |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,917,991 (GRCm39) |
M203K |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,392,689 (GRCm39) |
|
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,129,314 (GRCm39) |
E892G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,275,948 (GRCm39) |
S2612P |
probably damaging |
Het |
Epas1 |
T |
G |
17: 87,113,276 (GRCm39) |
|
probably benign |
Het |
Etv5 |
G |
A |
16: 22,230,458 (GRCm39) |
A192V |
probably benign |
Het |
Fa2h |
T |
A |
8: 112,075,921 (GRCm39) |
H234L |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,170,134 (GRCm39) |
Y47C |
probably damaging |
Het |
Flvcr1 |
T |
A |
1: 190,744,451 (GRCm39) |
|
probably benign |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,610,886 (GRCm39) |
|
probably benign |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,721,010 (GRCm39) |
|
probably null |
Het |
Krt4 |
G |
A |
15: 101,833,081 (GRCm39) |
R9C |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,132,525 (GRCm39) |
S876P |
probably damaging |
Het |
Mettl21e |
A |
G |
1: 44,250,190 (GRCm39) |
|
probably null |
Het |
Msh2 |
C |
T |
17: 88,024,904 (GRCm39) |
T594M |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,437,536 (GRCm39) |
S973P |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,354,697 (GRCm39) |
M889L |
probably benign |
Het |
Ntn1 |
A |
G |
11: 68,276,369 (GRCm39) |
I193T |
probably benign |
Het |
Nudt13 |
A |
T |
14: 20,359,851 (GRCm39) |
I193F |
probably damaging |
Het |
Or2n1 |
A |
G |
17: 38,486,338 (GRCm39) |
D121G |
probably damaging |
Het |
Or3a1 |
C |
T |
11: 74,225,925 (GRCm39) |
G44D |
probably damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,200 (GRCm39) |
S240T |
probably damaging |
Het |
Or5p73 |
A |
T |
7: 108,064,941 (GRCm39) |
T137S |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,606,381 (GRCm39) |
V344A |
probably damaging |
Het |
P2rx7 |
C |
T |
5: 122,795,093 (GRCm39) |
Q128* |
probably null |
Het |
Pcdhb22 |
G |
A |
18: 37,652,213 (GRCm39) |
R227H |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Pltp |
C |
T |
2: 164,682,056 (GRCm39) |
R394H |
probably benign |
Het |
Pramel14 |
C |
T |
4: 143,718,221 (GRCm39) |
M407I |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,679,737 (GRCm39) |
V251G |
unknown |
Het |
Prkg1 |
T |
C |
19: 31,641,596 (GRCm39) |
E29G |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,525,380 (GRCm39) |
S409P |
unknown |
Het |
Rp1 |
T |
A |
1: 4,417,941 (GRCm39) |
D1057V |
probably damaging |
Het |
Rttn |
G |
A |
18: 89,029,079 (GRCm39) |
C599Y |
probably damaging |
Het |
Shisa6 |
C |
T |
11: 66,416,153 (GRCm39) |
R213Q |
probably benign |
Het |
Slc3a1 |
T |
C |
17: 85,340,273 (GRCm39) |
Y232H |
probably damaging |
Het |
Slx4 |
G |
A |
16: 3,797,953 (GRCm39) |
A1477V |
probably damaging |
Het |
Ssrp1 |
T |
G |
2: 84,871,018 (GRCm39) |
I218S |
probably damaging |
Het |
St6galnac1 |
A |
C |
11: 116,659,756 (GRCm39) |
S186A |
probably benign |
Het |
Stab1 |
A |
G |
14: 30,880,965 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
T |
C |
2: 177,988,204 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,118,981 (GRCm39) |
I5867N |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,839 (GRCm39) |
D144E |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,023,048 (GRCm39) |
M84K |
probably damaging |
Het |
Tmem87b |
T |
A |
2: 128,673,153 (GRCm39) |
S196T |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,768 (GRCm39) |
T127A |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,148,406 (GRCm39) |
I336T |
probably benign |
Het |
Ttl |
A |
G |
2: 128,917,981 (GRCm39) |
I148V |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,649,970 (GRCm39) |
Y667H |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,119,171 (GRCm39) |
T152A |
probably damaging |
Het |
Vmn1r58 |
A |
T |
7: 5,413,636 (GRCm39) |
V198E |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,181,091 (GRCm39) |
F376L |
probably benign |
Het |
Zfp1007 |
T |
C |
5: 109,824,754 (GRCm39) |
E232G |
probably benign |
Het |
|
Other mutations in Ppip5k1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Ppip5k1
|
APN |
2 |
121,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:Ppip5k1
|
APN |
2 |
121,173,660 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01341:Ppip5k1
|
APN |
2 |
121,173,691 (GRCm39) |
nonsense |
probably null |
|
IGL01704:Ppip5k1
|
APN |
2 |
121,142,555 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL01949:Ppip5k1
|
APN |
2 |
121,168,341 (GRCm39) |
missense |
probably benign |
|
IGL02101:Ppip5k1
|
APN |
2 |
121,162,089 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02499:Ppip5k1
|
APN |
2 |
121,162,034 (GRCm39) |
splice site |
probably null |
|
IGL02701:Ppip5k1
|
APN |
2 |
121,147,130 (GRCm39) |
splice site |
probably null |
|
IGL03188:Ppip5k1
|
APN |
2 |
121,157,327 (GRCm39) |
unclassified |
probably benign |
|
boca
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
lapidus
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
Roca
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
R1315:Ppip5k1
|
UTSW |
2 |
121,142,486 (GRCm39) |
missense |
probably benign |
0.13 |
R1664:Ppip5k1
|
UTSW |
2 |
121,167,663 (GRCm39) |
missense |
probably benign |
0.02 |
R1753:Ppip5k1
|
UTSW |
2 |
121,173,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R1759:Ppip5k1
|
UTSW |
2 |
121,181,067 (GRCm39) |
missense |
probably benign |
0.32 |
R1763:Ppip5k1
|
UTSW |
2 |
121,179,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R2033:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R2037:Ppip5k1
|
UTSW |
2 |
121,173,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R2066:Ppip5k1
|
UTSW |
2 |
121,173,352 (GRCm39) |
unclassified |
probably benign |
|
R2103:Ppip5k1
|
UTSW |
2 |
121,152,134 (GRCm39) |
splice site |
probably null |
|
R3414:Ppip5k1
|
UTSW |
2 |
121,158,142 (GRCm39) |
missense |
probably damaging |
0.97 |
R4022:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Ppip5k1
|
UTSW |
2 |
121,174,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4783:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4843:Ppip5k1
|
UTSW |
2 |
121,157,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Ppip5k1
|
UTSW |
2 |
121,142,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5353:Ppip5k1
|
UTSW |
2 |
121,142,201 (GRCm39) |
missense |
probably benign |
0.00 |
R5493:Ppip5k1
|
UTSW |
2 |
121,167,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Ppip5k1
|
UTSW |
2 |
121,147,157 (GRCm39) |
missense |
probably benign |
0.00 |
R5835:Ppip5k1
|
UTSW |
2 |
121,168,380 (GRCm39) |
missense |
probably benign |
0.01 |
R5987:Ppip5k1
|
UTSW |
2 |
121,180,972 (GRCm39) |
nonsense |
probably null |
|
R6076:Ppip5k1
|
UTSW |
2 |
121,167,591 (GRCm39) |
missense |
probably null |
1.00 |
R6088:Ppip5k1
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
R6276:Ppip5k1
|
UTSW |
2 |
121,153,684 (GRCm39) |
unclassified |
probably benign |
|
R6555:Ppip5k1
|
UTSW |
2 |
121,168,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R6878:Ppip5k1
|
UTSW |
2 |
121,142,417 (GRCm39) |
missense |
probably benign |
0.00 |
R7075:Ppip5k1
|
UTSW |
2 |
121,152,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Ppip5k1
|
UTSW |
2 |
121,178,052 (GRCm39) |
missense |
probably benign |
0.05 |
R7332:Ppip5k1
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
R7359:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7462:Ppip5k1
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
R7568:Ppip5k1
|
UTSW |
2 |
121,168,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Ppip5k1
|
UTSW |
2 |
121,179,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R7678:Ppip5k1
|
UTSW |
2 |
121,168,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R7841:Ppip5k1
|
UTSW |
2 |
121,173,276 (GRCm39) |
missense |
probably benign |
0.13 |
R7877:Ppip5k1
|
UTSW |
2 |
121,147,235 (GRCm39) |
missense |
probably benign |
0.01 |
R7896:Ppip5k1
|
UTSW |
2 |
121,177,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Ppip5k1
|
UTSW |
2 |
121,142,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R7911:Ppip5k1
|
UTSW |
2 |
121,173,139 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8167:Ppip5k1
|
UTSW |
2 |
121,173,282 (GRCm39) |
nonsense |
probably null |
|
R8179:Ppip5k1
|
UTSW |
2 |
121,172,095 (GRCm39) |
critical splice donor site |
probably null |
|
R8766:Ppip5k1
|
UTSW |
2 |
121,166,919 (GRCm39) |
nonsense |
probably null |
|
R8954:Ppip5k1
|
UTSW |
2 |
121,153,701 (GRCm39) |
unclassified |
probably benign |
|
R8981:Ppip5k1
|
UTSW |
2 |
121,158,121 (GRCm39) |
unclassified |
probably benign |
|
R9127:Ppip5k1
|
UTSW |
2 |
121,158,125 (GRCm39) |
critical splice donor site |
probably null |
|
R9165:Ppip5k1
|
UTSW |
2 |
121,162,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R9244:Ppip5k1
|
UTSW |
2 |
121,164,932 (GRCm39) |
missense |
probably benign |
0.30 |
R9338:Ppip5k1
|
UTSW |
2 |
121,153,827 (GRCm39) |
missense |
|
|
R9662:Ppip5k1
|
UTSW |
2 |
121,174,054 (GRCm39) |
missense |
probably benign |
0.15 |
X0020:Ppip5k1
|
UTSW |
2 |
121,172,136 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Ppip5k1
|
UTSW |
2 |
121,168,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGAGGCGATCTGTGATAGCCAC -3'
(R):5'- CCCATGCTGAAGCTAGAAAGTCTCC -3'
Sequencing Primer
(F):5'- gctgattctcctgcttccac -3'
(R):5'- CTAGAAAGTCTCCAGCTTTGGATG -3'
|
Posted On |
2013-04-24 |