Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Ppip5k1'

193701

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

Hisppd2a, B430315C20Rik

MMRRC Submission

039785-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121310561-121355396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121342631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 489 (K489E)

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: K489E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: K489E

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: K489E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: K489E

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: K489E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: K489E

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: K489E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: K489E

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: K489E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: K489E

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855	E660D	probably benign	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	probably benign	Het

Other mutations in Ppip5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ppip5k1	APN	2	121347358	missense	probably damaging	1.00
IGL01154:Ppip5k1	APN	2	121343179	missense	probably damaging	1.00
IGL01341:Ppip5k1	APN	2	121343210	nonsense	probably null
IGL01704:Ppip5k1	APN	2	121312074	missense	possibly damaging	0.74
IGL01949:Ppip5k1	APN	2	121337860	missense	probably benign
IGL02101:Ppip5k1	APN	2	121331608	missense	possibly damaging	0.84
IGL02499:Ppip5k1	APN	2	121331553	splice site	probably null
IGL02701:Ppip5k1	APN	2	121316649	splice site	probably null
IGL03188:Ppip5k1	APN	2	121326846	unclassified	probably benign
boca	UTSW	2	121311969	missense	probably damaging	0.96
lapidus	UTSW	2	121337463	missense	probably benign	0.29
Roca	UTSW	2	121336751	missense	probably damaging	0.98
R0363:Ppip5k1	UTSW	2	121347355	missense	probably damaging	1.00
R1315:Ppip5k1	UTSW	2	121312005	missense	probably benign	0.13
R1664:Ppip5k1	UTSW	2	121337182	missense	probably benign	0.02
R1759:Ppip5k1	UTSW	2	121350586	missense	probably benign	0.32
R1763:Ppip5k1	UTSW	2	121348547	missense	probably damaging	1.00
R2033:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R2037:Ppip5k1	UTSW	2	121343193	missense	probably damaging	1.00
R2066:Ppip5k1	UTSW	2	121342871	unclassified	probably benign
R2103:Ppip5k1	UTSW	2	121321653	splice site	probably null
R3414:Ppip5k1	UTSW	2	121327661	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R4569:Ppip5k1	UTSW	2	121343563	missense	possibly damaging	0.69
R4783:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R4843:Ppip5k1	UTSW	2	121326887	missense	probably damaging	1.00
R4981:Ppip5k1	UTSW	2	121312390	missense	probably damaging	1.00
R5353:Ppip5k1	UTSW	2	121311720	missense	probably benign	0.00
R5493:Ppip5k1	UTSW	2	121336772	missense	probably damaging	1.00
R5654:Ppip5k1	UTSW	2	121316676	missense	probably benign	0.00
R5835:Ppip5k1	UTSW	2	121337899	missense	probably benign	0.01
R5987:Ppip5k1	UTSW	2	121350491	nonsense	probably null
R6076:Ppip5k1	UTSW	2	121337110	missense	probably null	1.00
R6088:Ppip5k1	UTSW	2	121337463	missense	probably benign	0.29
R6276:Ppip5k1	UTSW	2	121323203	unclassified	probably benign
R6555:Ppip5k1	UTSW	2	121337612	missense	probably damaging	0.99
R6878:Ppip5k1	UTSW	2	121311936	missense	probably benign	0.00
R7075:Ppip5k1	UTSW	2	121321750	missense	probably damaging	1.00
R7251:Ppip5k1	UTSW	2	121347571	missense	probably benign	0.05
R7332:Ppip5k1	UTSW	2	121311969	missense	probably damaging	0.96
R7359:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R7462:Ppip5k1	UTSW	2	121336751	missense	probably damaging	0.98
R7568:Ppip5k1	UTSW	2	121337615	missense	probably damaging	1.00
R7654:Ppip5k1	UTSW	2	121348559	missense	probably damaging	1.00
R7678:Ppip5k1	UTSW	2	121337661	missense	probably damaging	1.00
R7841:Ppip5k1	UTSW	2	121342795	missense	probably benign	0.13
R7877:Ppip5k1	UTSW	2	121316754	missense	probably benign	0.01
R7896:Ppip5k1	UTSW	2	121347330	missense	probably damaging	1.00
R7901:Ppip5k1	UTSW	2	121311909	missense	probably damaging	0.99
R7911:Ppip5k1	UTSW	2	121342658	missense	possibly damaging	0.89
R8167:Ppip5k1	UTSW	2	121342801	nonsense	probably null
R8179:Ppip5k1	UTSW	2	121341614	critical splice donor site	probably null
R8766:Ppip5k1	UTSW	2	121336438	nonsense	probably null
R8954:Ppip5k1	UTSW	2	121323220	unclassified	probably benign
R8981:Ppip5k1	UTSW	2	121327640	unclassified	probably benign
R9127:Ppip5k1	UTSW	2	121327644	critical splice donor site	probably null
R9165:Ppip5k1	UTSW	2	121331564	missense	probably damaging	1.00
R9244:Ppip5k1	UTSW	2	121334451	missense	probably benign	0.30
R9338:Ppip5k1	UTSW	2	121323346	missense
R9662:Ppip5k1	UTSW	2	121343573	missense	probably benign	0.15
X0020:Ppip5k1	UTSW	2	121341655	missense	probably damaging	0.99
Z1176:Ppip5k1	UTSW	2	121337866	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACAAACGTTCCAGCTTCTGAT -3'
(R):5'- TACGACACCCCTGCGGTCTCTA -3'

Sequencing Primer
(F):5'- ggaccaacacagtagaaagaaag -3'
(R):5'- TGGACATTACGAGGCTGC -3'

Posted On

2014-05-23