Incidental Mutation 'R4843:Ppip5k1'
ID |
371977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppip5k1
|
Ensembl Gene |
ENSMUSG00000033526 |
Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
Synonyms |
B430315C20Rik, Hisppd2a |
MMRRC Submission |
042456-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R4843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121157368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1046
(R1046L)
|
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: R1066L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000057632 Gene: ENSMUSG00000033526 AA Change: R1066L
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 damaging
Transcript: ENSMUST00000110626
AA Change: R1066L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106256 Gene: ENSMUSG00000033526 AA Change: R1066L
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 damaging
Transcript: ENSMUST00000110628
AA Change: R1046L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106258 Gene: ENSMUSG00000033526 AA Change: R1046L
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 |
unknown
Transcript: ENSMUST00000127255
AA Change: R263L
|
SMART Domains |
Protein: ENSMUSP00000118597 Gene: ENSMUSG00000033526 AA Change: R263L
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 |
noncoding transcript
Transcript: ENSMUST00000132617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132613
|
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 |
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 |
0.4275 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
95% (58/61) |
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 |
Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
Actl11 |
G |
T |
9: 107,806,691 (GRCm39) |
C338F |
possibly damaging |
Het |
Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
Cdca2 |
G |
T |
14: 67,914,425 (GRCm39) |
P945T |
probably damaging |
Het |
Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,033,071 (GRCm39) |
I148F |
possibly damaging |
Het |
Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,394,487 (GRCm39) |
|
probably benign |
Het |
Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
Ripk2 |
T |
C |
4: 16,155,073 (GRCm39) |
T149A |
probably damaging |
Het |
Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
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 |
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'- GGCTGTCACAAGGGAAATGC -3'
(R):5'- GACACCAACTGCTGAGAGATTAC -3'
Sequencing Primer
(F):5'- GGACACTTAGTGAGGGGCTCATTC -3'
(R):5'- TTACAGCAGAGGAAGTAAGTGAATG -3'
|
Posted On |
2016-03-01 |