Incidental Mutation 'R2066:Ppip5k1'
| ID |
226647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
Hisppd2a, B430315C20Rik |
| MMRRC Submission |
040071-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R2066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121310561-121355396 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 121342871 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000142364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (79/79) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 67,920,702 (GRCm38) |
I184L |
probably benign |
Het |
| 9530002B09Rik |
T |
A |
4: 122,689,322 (GRCm38) |
|
probably benign |
Het |
| Acadl |
C |
T |
1: 66,841,746 (GRCm38) |
|
probably null |
Het |
| Acss1 |
G |
A |
2: 150,668,131 (GRCm38) |
Q23* |
probably null |
Het |
| Afap1l1 |
A |
T |
18: 61,739,122 (GRCm38) |
|
probably null |
Het |
| Akt3 |
A |
G |
1: 177,102,985 (GRCm38) |
S136P |
possibly damaging |
Het |
| Amy2a1 |
T |
C |
3: 113,530,568 (GRCm38) |
I108V |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,585,386 (GRCm38) |
L639R |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,306,728 (GRCm38) |
S71P |
probably damaging |
Het |
| B3gnt2 |
A |
G |
11: 22,836,735 (GRCm38) |
L151P |
probably damaging |
Het |
| Bach1 |
A |
T |
16: 87,729,625 (GRCm38) |
K658N |
probably damaging |
Het |
| Bdnf |
C |
A |
2: 109,723,902 (GRCm38) |
T207K |
probably damaging |
Het |
| Bod1l |
G |
T |
5: 41,805,156 (GRCm38) |
T2746K |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 96,046,465 (GRCm38) |
S652P |
probably benign |
Het |
| Ccnt1 |
A |
T |
15: 98,551,942 (GRCm38) |
H156Q |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,906,157 (GRCm38) |
I1021N |
possibly damaging |
Het |
| Cnep1r1 |
G |
T |
8: 88,118,817 (GRCm38) |
|
probably benign |
Het |
| Cntn6 |
C |
T |
6: 104,861,822 (GRCm38) |
R946* |
probably null |
Het |
| Dnaaf3 |
T |
C |
7: 4,523,799 (GRCm38) |
I426M |
possibly damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,221,441 (GRCm38) |
I471N |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,298,078 (GRCm38) |
L362P |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,461,698 (GRCm38) |
N149S |
probably benign |
Het |
| Fbln7 |
G |
T |
2: 128,877,466 (GRCm38) |
R61L |
probably damaging |
Het |
| Fgb |
C |
A |
3: 83,049,689 (GRCm38) |
D25Y |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,820,216 (GRCm38) |
S374P |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,370,119 (GRCm38) |
|
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,769,726 (GRCm38) |
T69A |
probably benign |
Het |
| Gm2959 |
A |
G |
14: 42,413,701 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9912 |
T |
C |
3: 149,185,159 (GRCm38) |
T113A |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,421,880 (GRCm38) |
|
probably benign |
Het |
| Hunk |
G |
A |
16: 90,481,245 (GRCm38) |
|
probably null |
Het |
| Ifnb1 |
T |
A |
4: 88,522,759 (GRCm38) |
I6F |
possibly damaging |
Het |
| Il2rg |
A |
G |
X: 101,267,810 (GRCm38) |
L57P |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,767,496 (GRCm38) |
V720A |
probably benign |
Het |
| Invs |
T |
A |
4: 48,396,287 (GRCm38) |
L320Q |
probably damaging |
Het |
| Jpt2 |
G |
A |
17: 24,948,739 (GRCm38) |
Q79* |
probably null |
Het |
| Lingo2 |
A |
G |
4: 35,709,179 (GRCm38) |
L267P |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 86,665,775 (GRCm38) |
T490A |
probably damaging |
Het |
| Meiob |
G |
T |
17: 24,818,316 (GRCm38) |
R56L |
probably damaging |
Het |
| Mindy3 |
A |
T |
2: 12,419,249 (GRCm38) |
S2T |
probably damaging |
Het |
| Mrm3 |
A |
T |
11: 76,250,321 (GRCm38) |
D385V |
probably damaging |
Het |
| Mrto4 |
T |
C |
4: 139,349,023 (GRCm38) |
K86E |
probably benign |
Het |
| Naf1 |
A |
G |
8: 66,887,780 (GRCm38) |
D414G |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,449,004 (GRCm38) |
R1694Q |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,968,146 (GRCm38) |
V1701A |
probably damaging |
Het |
| Nipal4 |
T |
G |
11: 46,156,795 (GRCm38) |
D104A |
probably damaging |
Het |
| Npas4 |
A |
G |
19: 4,987,414 (GRCm38) |
V284A |
probably damaging |
Het |
| Nup133 |
C |
A |
8: 123,914,575 (GRCm38) |
D869Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,135,732 (GRCm38) |
A215V |
possibly damaging |
Het |
| Olfr1218 |
A |
G |
2: 89,054,899 (GRCm38) |
Y176H |
probably damaging |
Het |
| Olfr870 |
G |
T |
9: 20,171,554 (GRCm38) |
Q6K |
probably benign |
Het |
| Olfr938 |
T |
C |
9: 39,078,214 (GRCm38) |
Y177C |
probably damaging |
Het |
| Pgs1 |
G |
A |
11: 118,014,570 (GRCm38) |
|
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,747,136 (GRCm38) |
F672S |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,770,758 (GRCm38) |
L970Q |
probably damaging |
Het |
| Plxnb3 |
T |
A |
X: 73,771,751 (GRCm38) |
Y1845* |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,120,678 (GRCm38) |
D1182G |
possibly damaging |
Het |
| Psg25 |
G |
A |
7: 18,529,562 (GRCm38) |
T112I |
probably damaging |
Het |
| Sec61g |
T |
C |
11: 16,508,124 (GRCm38) |
T24A |
probably benign |
Het |
| Skint1 |
T |
A |
4: 112,025,533 (GRCm38) |
V258D |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,365,028 (GRCm38) |
|
probably null |
Het |
| Sox2 |
C |
A |
3: 34,651,307 (GRCm38) |
Q298K |
possibly damaging |
Het |
| Spatc1 |
T |
A |
15: 76,283,537 (GRCm38) |
|
probably null |
Het |
| Szt2 |
T |
C |
4: 118,373,980 (GRCm38) |
M2529V |
unknown |
Het |
| Thrap3 |
T |
C |
4: 126,175,396 (GRCm38) |
Y654C |
possibly damaging |
Het |
| Tpp2 |
T |
G |
1: 43,978,438 (GRCm38) |
I734S |
possibly damaging |
Het |
| Troap |
T |
C |
15: 99,082,463 (GRCm38) |
L508P |
probably benign |
Het |
| Ttc28 |
C |
A |
5: 111,225,933 (GRCm38) |
F1078L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,714,373 (GRCm38) |
N32795S |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm38) |
A752T |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,092,241 (GRCm38) |
E95G |
probably benign |
Het |
| Vmn1r55 |
A |
G |
7: 5,147,049 (GRCm38) |
V125A |
possibly damaging |
Het |
| Vstm2a |
A |
T |
11: 16,261,483 (GRCm38) |
I98F |
probably benign |
Het |
| Zdhhc13 |
T |
A |
7: 48,816,427 (GRCm38) |
V284D |
probably benign |
Het |
| Zfp668 |
C |
A |
7: 127,867,031 (GRCm38) |
R327L |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,613,350 (GRCm38) |
C1589R |
probably damaging |
Het |
|
| Other mutations in Ppip5k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Ppip5k1
|
APN |
2 |
121,347,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01154:Ppip5k1
|
APN |
2 |
121,343,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01341:Ppip5k1
|
APN |
2 |
121,343,210 (GRCm38) |
nonsense |
probably null |
|
|
IGL01704:Ppip5k1
|
APN |
2 |
121,312,074 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01949:Ppip5k1
|
APN |
2 |
121,337,860 (GRCm38) |
missense |
probably benign |
|
|
IGL02101:Ppip5k1
|
APN |
2 |
121,331,608 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02499:Ppip5k1
|
APN |
2 |
121,331,553 (GRCm38) |
splice site |
probably null |
|
|
IGL02701:Ppip5k1
|
APN |
2 |
121,316,649 (GRCm38) |
splice site |
probably null |
|
|
IGL03188:Ppip5k1
|
APN |
2 |
121,326,846 (GRCm38) |
unclassified |
probably benign |
|
|
boca
|
UTSW |
2 |
121,311,969 (GRCm38) |
missense |
probably damaging |
0.96 |
|
lapidus
|
UTSW |
2 |
121,337,463 (GRCm38) |
missense |
probably benign |
0.29 |
|
Roca
|
UTSW |
2 |
121,336,751 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0363:Ppip5k1
|
UTSW |
2 |
121,347,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1315:Ppip5k1
|
UTSW |
2 |
121,312,005 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1664:Ppip5k1
|
UTSW |
2 |
121,337,182 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1753:Ppip5k1
|
UTSW |
2 |
121,342,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1759:Ppip5k1
|
UTSW |
2 |
121,350,586 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1763:Ppip5k1
|
UTSW |
2 |
121,348,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2033:Ppip5k1
|
UTSW |
2 |
121,337,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2037:Ppip5k1
|
UTSW |
2 |
121,343,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2103:Ppip5k1
|
UTSW |
2 |
121,321,653 (GRCm38) |
splice site |
probably null |
|
|
R3414:Ppip5k1
|
UTSW |
2 |
121,327,661 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4022:Ppip5k1
|
UTSW |
2 |
121,337,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Ppip5k1
|
UTSW |
2 |
121,343,563 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4783:Ppip5k1
|
UTSW |
2 |
121,340,848 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4843:Ppip5k1
|
UTSW |
2 |
121,326,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4981:Ppip5k1
|
UTSW |
2 |
121,312,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5353:Ppip5k1
|
UTSW |
2 |
121,311,720 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5493:Ppip5k1
|
UTSW |
2 |
121,336,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5654:Ppip5k1
|
UTSW |
2 |
121,316,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5835:Ppip5k1
|
UTSW |
2 |
121,337,899 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5987:Ppip5k1
|
UTSW |
2 |
121,350,491 (GRCm38) |
nonsense |
probably null |
|
|
R6076:Ppip5k1
|
UTSW |
2 |
121,337,110 (GRCm38) |
missense |
probably null |
1.00 |
|
R6088:Ppip5k1
|
UTSW |
2 |
121,337,463 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6276:Ppip5k1
|
UTSW |
2 |
121,323,203 (GRCm38) |
unclassified |
probably benign |
|
|
R6555:Ppip5k1
|
UTSW |
2 |
121,337,612 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6878:Ppip5k1
|
UTSW |
2 |
121,311,936 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7075:Ppip5k1
|
UTSW |
2 |
121,321,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7251:Ppip5k1
|
UTSW |
2 |
121,347,571 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7332:Ppip5k1
|
UTSW |
2 |
121,311,969 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7359:Ppip5k1
|
UTSW |
2 |
121,340,848 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7462:Ppip5k1
|
UTSW |
2 |
121,336,751 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7568:Ppip5k1
|
UTSW |
2 |
121,337,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7654:Ppip5k1
|
UTSW |
2 |
121,348,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7678:Ppip5k1
|
UTSW |
2 |
121,337,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7841:Ppip5k1
|
UTSW |
2 |
121,342,795 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7877:Ppip5k1
|
UTSW |
2 |
121,316,754 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7896:Ppip5k1
|
UTSW |
2 |
121,347,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7901:Ppip5k1
|
UTSW |
2 |
121,311,909 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7911:Ppip5k1
|
UTSW |
2 |
121,342,658 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8167:Ppip5k1
|
UTSW |
2 |
121,342,801 (GRCm38) |
nonsense |
probably null |
|
|
R8179:Ppip5k1
|
UTSW |
2 |
121,341,614 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8766:Ppip5k1
|
UTSW |
2 |
121,336,438 (GRCm38) |
nonsense |
probably null |
|
|
R8954:Ppip5k1
|
UTSW |
2 |
121,323,220 (GRCm38) |
unclassified |
probably benign |
|
|
R8981:Ppip5k1
|
UTSW |
2 |
121,327,640 (GRCm38) |
unclassified |
probably benign |
|
|
R9127:Ppip5k1
|
UTSW |
2 |
121,327,644 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9165:Ppip5k1
|
UTSW |
2 |
121,331,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9244:Ppip5k1
|
UTSW |
2 |
121,334,451 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9338:Ppip5k1
|
UTSW |
2 |
121,323,346 (GRCm38) |
missense |
|
|
|
R9662:Ppip5k1
|
UTSW |
2 |
121,343,573 (GRCm38) |
missense |
probably benign |
0.15 |
|
X0020:Ppip5k1
|
UTSW |
2 |
121,341,655 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Ppip5k1
|
UTSW |
2 |
121,337,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTTAGTAGGTCGCCGC -3'
(R):5'- CGTCCCAGTTCATATGGAGAGTTC -3'
Sequencing Primer
(F):5'- TTAGTAGGTCGCCGCTGCTAC -3'
(R):5'- GGAGCACACGTCCCAGAAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation