Incidental Mutation 'R7251:Ppip5k1'
| ID |
563906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
045313-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R7251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121178052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 283
(E283D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000134796]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
AA Change: E283D
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: E283D
| 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 benign
Transcript: ENSMUST00000110625
AA Change: E283D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: E283D
| 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 benign
Transcript: ENSMUST00000110626
AA Change: E283D
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: E283D
| 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 benign
Transcript: ENSMUST00000110627
AA Change: E283D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: E283D
| 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 benign
Transcript: ENSMUST00000110628
AA Change: E283D
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: E283D
| 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 |
probably benign
Transcript: ENSMUST00000134796
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115051
Gene: ENSMUSG00000033526
AA Change: N104I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4NZO|A
|
2 |
67 |
3e-29 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,974 (GRCm39) |
D186V |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,259,063 (GRCm39) |
D884G |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,497,019 (GRCm39) |
C154S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,057,037 (GRCm39) |
Y1840H |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,200 (GRCm39) |
E399G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,197,572 (GRCm39) |
G197S |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,119,481 (GRCm39) |
V308A |
probably damaging |
Het |
| Atcay |
A |
T |
10: 81,046,366 (GRCm39) |
C319* |
probably null |
Het |
| Bend4 |
C |
G |
5: 67,584,876 (GRCm39) |
R16P |
unknown |
Het |
| Braf |
A |
G |
6: 39,654,504 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,828,898 (GRCm39) |
E942G |
probably damaging |
Het |
| Cdpf1 |
C |
T |
15: 85,693,494 (GRCm39) |
G11D |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,683,509 (GRCm39) |
E382G |
possibly damaging |
Het |
| Cndp1 |
T |
A |
18: 84,640,322 (GRCm39) |
E294D |
probably benign |
Het |
| Cnn1 |
T |
A |
9: 22,019,513 (GRCm39) |
Y294N |
unknown |
Het |
| Cyp2ab1 |
A |
G |
16: 20,134,646 (GRCm39) |
F104S |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,144 (GRCm39) |
V336M |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,051,511 (GRCm39) |
D782V |
probably damaging |
Het |
| Ddx39b |
A |
G |
17: 35,472,464 (GRCm39) |
*429W |
probably null |
Het |
| Dgkb |
T |
C |
12: 38,031,985 (GRCm39) |
S16P |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,773 (GRCm39) |
C465R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,524 (GRCm39) |
I1770V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,681,370 (GRCm39) |
N250S |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,809,425 (GRCm39) |
V1915M |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,515,319 (GRCm39) |
V704M |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,798,942 (GRCm39) |
N323K |
possibly damaging |
Het |
| Hhatl |
A |
T |
9: 121,614,116 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,132,813 (GRCm39) |
S204P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,875 (GRCm39) |
N2266I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,625,982 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,408,423 (GRCm39) |
D1751G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,992,521 (GRCm39) |
D1050E |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,308,147 (GRCm39) |
G323R |
probably damaging |
Het |
| Mgll |
A |
G |
6: 88,800,357 (GRCm39) |
E252G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,278,965 (GRCm39) |
N145S |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,218,599 (GRCm39) |
S1410N |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,853,965 (GRCm38) |
T384A |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,832 (GRCm39) |
E310G |
probably damaging |
Het |
| Nol10 |
T |
C |
12: 17,452,108 (GRCm39) |
L354P |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,872 (GRCm39) |
R139G |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,209 (GRCm39) |
V213A |
probably benign |
Het |
| Or52a33 |
C |
T |
7: 103,288,909 (GRCm39) |
G146D |
probably damaging |
Het |
| Or8j3c |
G |
A |
2: 86,253,940 (GRCm39) |
L27F |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,289,077 (GRCm39) |
N774K |
possibly damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,752,497 (GRCm39) |
|
probably null |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,027 (GRCm39) |
F745L |
unknown |
Het |
| Rgs19 |
C |
T |
2: 181,331,541 (GRCm39) |
V88I |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,449 (GRCm39) |
S733P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,870,899 (GRCm39) |
W29R |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,112,943 (GRCm39) |
N5S |
probably damaging |
Het |
| Sh3bp5l |
A |
T |
11: 58,232,128 (GRCm39) |
Q131L |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,131,891 (GRCm39) |
F461I |
possibly damaging |
Het |
| Stk24 |
A |
T |
14: 121,545,434 (GRCm39) |
L108Q |
probably damaging |
Het |
| Syne3 |
TC |
T |
12: 104,927,830 (GRCm39) |
|
probably null |
Het |
| Tapbpl |
A |
T |
6: 125,203,558 (GRCm39) |
V374E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,341 (GRCm39) |
I18V |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,299,048 (GRCm39) |
I233F |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,381,038 (GRCm39) |
S377P |
probably benign |
Het |
| Uty |
A |
G |
Y: 1,154,262 (GRCm39) |
S721P |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,155,979 (GRCm39) |
T412K |
possibly damaging |
Het |
| Zdhhc11 |
G |
T |
13: 74,140,216 (GRCm39) |
V336L |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,275,826 (GRCm39) |
S315T |
probably damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,811 (GRCm39) |
L305P |
probably 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 |
|
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 |
|
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'- CCATTGGCCCGAAGAAGGT -3'
(R):5'- GACCCCATTCTTTGTATTCTTAATGT -3'
Sequencing Primer
(F):5'- GGTCAAATCCACAAACTGTTTGCTG -3'
(R):5'- CAGGTTGGCATTGAACTCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation