Incidental Mutation 'R4569:Ppip5k1'
ID |
341974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppip5k1
|
Ensembl Gene |
ENSMUSG00000033526 |
Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
Synonyms |
B430315C20Rik, Hisppd2a |
MMRRC Submission |
041793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R4569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121174044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 359
(R359Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
|
AlphaFold |
A2ARP1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052029
AA Change: R359Q
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000057632 Gene: ENSMUSG00000033526 AA Change: R359Q
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 |
possibly damaging
Transcript: ENSMUST00000110625
AA Change: R359Q
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106255 Gene: ENSMUSG00000033526 AA Change: R359Q
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 |
possibly damaging
Transcript: ENSMUST00000110626
AA Change: R359Q
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106256 Gene: ENSMUSG00000033526 AA Change: R359Q
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 |
possibly damaging
Transcript: ENSMUST00000110627
AA Change: R359Q
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106257 Gene: ENSMUSG00000033526 AA Change: R359Q
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 |
possibly damaging
Transcript: ENSMUST00000110628
AA Change: R359Q
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106258 Gene: ENSMUSG00000033526 AA Change: R359Q
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: ENSMUST00000134644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140764
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
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 |
|
Meta Mutation Damage Score |
0.1632 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (87/88) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,262 (GRCm39) |
T322A |
probably benign |
Het |
Abhd13 |
C |
T |
8: 10,038,071 (GRCm39) |
P223S |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,117,905 (GRCm39) |
L1214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,927,373 (GRCm39) |
P120Q |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,739,556 (GRCm39) |
Y277C |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,618,166 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,290,343 (GRCm39) |
V1746D |
probably damaging |
Het |
C1qtnf7 |
T |
A |
5: 43,766,549 (GRCm39) |
N49K |
possibly damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,811 (GRCm39) |
D587V |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,389,359 (GRCm39) |
|
probably null |
Het |
Cdk2ap2 |
T |
C |
19: 4,147,879 (GRCm39) |
F49L |
possibly damaging |
Het |
Cdon |
A |
T |
9: 35,388,265 (GRCm39) |
I747F |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,029 (GRCm39) |
R508W |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,154,831 (GRCm39) |
L87P |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,683,834 (GRCm39) |
R66C |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,818 (GRCm39) |
P3871S |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,373 (GRCm39) |
|
probably null |
Het |
Dph1 |
A |
T |
11: 75,069,721 (GRCm39) |
|
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,008 (GRCm39) |
I382T |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,652,780 (GRCm39) |
Y726H |
probably damaging |
Het |
Fbxo32 |
A |
G |
15: 58,044,873 (GRCm39) |
F353L |
probably damaging |
Het |
Fchsd2 |
G |
A |
7: 100,926,809 (GRCm39) |
G657D |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,559 (GRCm39) |
E44V |
possibly damaging |
Het |
Gjb2 |
C |
T |
14: 57,337,762 (GRCm39) |
V149I |
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,898,317 (GRCm39) |
M141V |
probably benign |
Het |
Gnaq |
T |
C |
19: 16,312,370 (GRCm39) |
S211P |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,299,142 (GRCm39) |
R527G |
probably benign |
Het |
Gns |
A |
G |
10: 121,217,083 (GRCm39) |
Q286R |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,397 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
C |
2: 31,097,677 (GRCm39) |
|
probably benign |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,857 (GRCm39) |
D124E |
probably damaging |
Het |
Hbp1 |
T |
A |
12: 32,000,231 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,230,875 (GRCm39) |
T371I |
unknown |
Het |
Ints2 |
A |
G |
11: 86,147,024 (GRCm39) |
C41R |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Jph4 |
G |
T |
14: 55,352,503 (GRCm39) |
R77S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,413,507 (GRCm39) |
I331F |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,698 (GRCm39) |
R30Q |
probably damaging |
Het |
Mgst1 |
C |
A |
6: 138,133,213 (GRCm39) |
T176K |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,914,013 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
C |
T |
8: 32,407,802 (GRCm39) |
V144I |
probably benign |
Het |
Ntmt2 |
T |
A |
1: 163,530,586 (GRCm39) |
*284C |
probably null |
Het |
Or1ad8 |
T |
C |
11: 50,898,381 (GRCm39) |
I194T |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Pex11b |
A |
T |
3: 96,551,330 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,994,593 (GRCm39) |
|
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,377,473 (GRCm39) |
P562S |
unknown |
Het |
Rdx |
A |
G |
9: 51,980,141 (GRCm39) |
I245V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rhob |
T |
G |
12: 8,549,373 (GRCm39) |
D87A |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,060 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
G |
T |
7: 29,025,287 (GRCm39) |
P619Q |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,606,496 (GRCm39) |
*896C |
probably null |
Het |
Stradb |
C |
T |
1: 59,019,117 (GRCm39) |
R13* |
probably null |
Het |
Tbx21 |
G |
A |
11: 97,005,581 (GRCm39) |
A128V |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,062,197 (GRCm39) |
C2552S |
probably benign |
Het |
Tgif1 |
A |
T |
17: 71,151,912 (GRCm39) |
V233E |
possibly damaging |
Het |
Trim31 |
A |
T |
17: 37,209,633 (GRCm39) |
I130L |
probably benign |
Het |
Trrap |
C |
T |
5: 144,728,928 (GRCm39) |
T614I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,766,758 (GRCm39) |
V3107F |
probably damaging |
Het |
Txnrd2 |
T |
G |
16: 18,274,956 (GRCm39) |
D322E |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,315 (GRCm39) |
|
probably null |
Het |
Usp43 |
C |
T |
11: 67,789,788 (GRCm39) |
C252Y |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,766,178 (GRCm39) |
L744* |
probably null |
Het |
Vmn2r71 |
A |
C |
7: 85,273,402 (GRCm39) |
K739Q |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,284,124 (GRCm39) |
T653M |
probably benign |
Het |
Wdr83os |
T |
A |
8: 85,808,495 (GRCm39) |
S82R |
probably damaging |
Het |
Xpo6 |
T |
A |
7: 125,727,427 (GRCm39) |
L526F |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,466,894 (GRCm39) |
V2351I |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
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 |
R0363:Ppip5k1
|
UTSW |
2 |
121,177,836 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGCTCAGACAGTCAACAGC -3'
(R):5'- TAGCTTGCTCATCATTGCCG -3'
Sequencing Primer
(F):5'- CAGGAAAGAACTGGTCTGGCTTAAG -3'
(R):5'- CGTGCATTTATTTCTGCCTTAAATGG -3'
|
Posted On |
2015-09-24 |