Incidental Mutation 'R2033:Ppip5k1'
| ID |
221450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
040040-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R2033 (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 121168108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 715
(R715H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000155568]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052029
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: R715H
| 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: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: R715H
| 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: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: R715H
| 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: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: R715H
| 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: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: R715H
| 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: ENSMUST00000127255
|
| SMART Domains |
Protein: ENSMUSP00000118597
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
54 |
6.7e-9 |
PFAM |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132114
|
| SMART Domains |
Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
117 |
1.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155568
|
| SMART Domains |
Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
107 |
8.6e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.8893 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
| Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
| Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
| Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
| Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
| G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
| Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
| Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
| Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
| Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
| Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
| Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
| Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
| Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
| Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
| Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
| Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
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 |
|
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 |
|
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'- AGATCCCTTATGTGAGACCCACC -3'
(R):5'- CCCAGCTCTGTAGGTTGGTATG -3'
Sequencing Primer
(F):5'- CTGGGGAATGACCACGTCAG -3'
(R):5'- GTTGGTATGAATACTACTGACCGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation