Incidental Mutation 'R2037:Ppip5k1'
ID |
224733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppip5k1
|
Ensembl Gene |
ENSMUSG00000033526 |
Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
Synonyms |
B430315C20Rik, Hisppd2a |
MMRRC Submission |
040044-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R2037 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121173674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 399
(R399H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
|
AlphaFold |
A2ARP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052029
AA Change: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057632 Gene: ENSMUSG00000033526 AA Change: R399H
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: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106255 Gene: ENSMUSG00000033526 AA Change: R399H
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: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106256 Gene: ENSMUSG00000033526 AA Change: R399H
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: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106257 Gene: ENSMUSG00000033526 AA Change: R399H
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: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106258 Gene: ENSMUSG00000033526 AA Change: R399H
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: ENSMUST00000140764
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142364
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,980,810 (GRCm39) |
|
probably null |
Het |
AI987944 |
T |
C |
7: 41,023,815 (GRCm39) |
Y391C |
probably benign |
Het |
Ankfn1 |
A |
T |
11: 89,346,946 (GRCm39) |
S296T |
probably benign |
Het |
Apob |
A |
G |
12: 8,057,488 (GRCm39) |
D1957G |
probably benign |
Het |
Baz1a |
G |
T |
12: 54,976,431 (GRCm39) |
P415Q |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,134 (GRCm39) |
H1299Q |
probably benign |
Het |
C7 |
G |
T |
15: 5,063,720 (GRCm39) |
S227* |
probably null |
Het |
Catsperb |
A |
T |
12: 101,474,221 (GRCm39) |
R306S |
probably damaging |
Het |
Cbx3 |
T |
A |
6: 51,448,793 (GRCm39) |
|
probably null |
Het |
Ccnt2 |
A |
G |
1: 127,731,136 (GRCm39) |
Y671C |
probably damaging |
Het |
Crocc |
A |
G |
4: 140,774,253 (GRCm39) |
|
probably null |
Het |
Ctr9 |
G |
A |
7: 110,646,014 (GRCm39) |
V669I |
probably benign |
Het |
Dck |
T |
G |
5: 88,920,576 (GRCm39) |
Y99D |
probably damaging |
Het |
Ddx52 |
T |
A |
11: 83,835,432 (GRCm39) |
D119E |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,823,768 (GRCm39) |
K596N |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,621,741 (GRCm39) |
V1128E |
probably benign |
Het |
Dph1 |
A |
T |
11: 75,076,679 (GRCm39) |
|
probably null |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Enthd1 |
A |
G |
15: 80,444,550 (GRCm39) |
S2P |
possibly damaging |
Het |
Erc1 |
A |
C |
6: 119,699,216 (GRCm39) |
V802G |
possibly damaging |
Het |
F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
Fam169a |
C |
A |
13: 97,243,600 (GRCm39) |
A210E |
probably benign |
Het |
Fcmr |
A |
G |
1: 130,806,070 (GRCm39) |
D342G |
possibly damaging |
Het |
Fgfr4 |
T |
G |
13: 55,315,702 (GRCm39) |
V743G |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,808,856 (GRCm39) |
D1725G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,136,934 (GRCm39) |
C195* |
probably null |
Het |
Herc2 |
G |
A |
7: 55,855,709 (GRCm39) |
A3882T |
probably damaging |
Het |
Il20 |
T |
A |
1: 130,836,115 (GRCm39) |
N143Y |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,692,092 (GRCm39) |
S892G |
probably damaging |
Het |
Ipo13 |
A |
T |
4: 117,761,858 (GRCm39) |
Y447* |
probably null |
Het |
Itprid1 |
A |
G |
6: 55,874,860 (GRCm39) |
N270S |
probably benign |
Het |
Kbtbd12 |
A |
T |
6: 88,594,779 (GRCm39) |
N350K |
probably benign |
Het |
Kiz |
T |
C |
2: 146,811,880 (GRCm39) |
F663S |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,263 (GRCm39) |
D870G |
probably benign |
Het |
Methig1 |
C |
T |
15: 100,251,467 (GRCm39) |
A126V |
probably benign |
Het |
Mme |
A |
G |
3: 63,235,681 (GRCm39) |
D209G |
probably null |
Het |
Mroh4 |
A |
G |
15: 74,481,610 (GRCm39) |
F811L |
possibly damaging |
Het |
Myo9b |
G |
T |
8: 71,743,510 (GRCm39) |
K190N |
probably damaging |
Het |
Ncf1 |
T |
C |
5: 134,258,406 (GRCm39) |
I6V |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,310,618 (GRCm39) |
F121L |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,411,152 (GRCm39) |
D183G |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,418,429 (GRCm39) |
V53A |
probably benign |
Het |
Or10u4 |
T |
C |
10: 129,802,009 (GRCm39) |
I187V |
probably benign |
Het |
Or8j3 |
T |
C |
2: 86,028,176 (GRCm39) |
S307G |
probably benign |
Het |
Or8k22 |
T |
C |
2: 86,162,774 (GRCm39) |
N309D |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,784,214 (GRCm39) |
Y265* |
probably null |
Het |
Pigg |
G |
A |
5: 108,486,518 (GRCm39) |
A724T |
probably damaging |
Het |
Pik3r4 |
C |
T |
9: 105,527,534 (GRCm39) |
R296C |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,431,617 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
G |
12: 112,734,992 (GRCm39) |
D483G |
probably damaging |
Het |
Qrfpr |
A |
T |
3: 36,236,806 (GRCm39) |
H198Q |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,050,748 (GRCm39) |
D883E |
probably damaging |
Het |
Retnlg |
T |
C |
16: 48,694,615 (GRCm39) |
C88R |
probably damaging |
Het |
Sin3a |
C |
T |
9: 57,004,109 (GRCm39) |
T287I |
probably benign |
Het |
Slc44a1 |
GCC |
GCCCCC |
4: 53,563,243 (GRCm39) |
|
probably benign |
Het |
Sppl2c |
G |
C |
11: 104,077,307 (GRCm39) |
V36L |
probably benign |
Het |
Srp72 |
T |
A |
5: 77,124,338 (GRCm39) |
I68N |
probably damaging |
Het |
Srrm3 |
T |
A |
5: 135,883,231 (GRCm39) |
S195R |
probably damaging |
Het |
Srrm4 |
T |
A |
5: 116,605,887 (GRCm39) |
|
probably benign |
Het |
Ssb |
A |
G |
2: 69,699,163 (GRCm39) |
S199G |
probably benign |
Het |
Sult2a6 |
T |
A |
7: 13,988,634 (GRCm39) |
Y42F |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,072,343 (GRCm39) |
T120A |
probably benign |
Het |
Tas1r1 |
A |
G |
4: 152,112,627 (GRCm39) |
F809L |
probably damaging |
Het |
Tead3 |
A |
G |
17: 28,555,544 (GRCm39) |
S117P |
probably damaging |
Het |
Tefm |
C |
T |
11: 80,031,056 (GRCm39) |
R60H |
probably damaging |
Het |
Tmem104 |
G |
A |
11: 115,092,221 (GRCm39) |
R110H |
possibly damaging |
Het |
Tnxb |
G |
A |
17: 34,918,179 (GRCm39) |
G2364D |
probably damaging |
Het |
Vmn1r211 |
T |
A |
13: 23,036,134 (GRCm39) |
I178F |
probably damaging |
Het |
Vmn1r6 |
A |
T |
6: 56,980,109 (GRCm39) |
Y235F |
probably damaging |
Het |
Xrcc5 |
C |
A |
1: 72,385,529 (GRCm39) |
T540K |
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 |
R2033:Ppip5k1
|
UTSW |
2 |
121,168,108 (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'- TTAGACTAGGGCTCCTGACCAG -3'
(R):5'- CAAGGTGCTTTAACTCCATCAC -3'
Sequencing Primer
(F):5'- TAGGGCTCCTGACCAGACCTC -3'
(R):5'- ATCACTGTGTCTGGCCTCAGG -3'
|
Posted On |
2014-08-25 |