Mutagenetix > Incidental Mutations

Incidental Mutation 'R0281:Ppip5k2'

37488

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Vip2

MMRRC Submission

038503-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R0281 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

97706048-97770411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97716553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1113 (H1113R)

Ref Sequence

ENSEMBL: ENSMUSP00000108466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042509] [ENSMUST00000112845] [ENSMUST00000171129]

AlphaFold

Q6ZQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000042509

SMART Domains

Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
PDB:4NZO\|A	42	366	N/A	PDB
Pfam:His_Phos_2	379	894	2.9e-112	PFAM
low complexity region	1073	1092	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112845
AA Change: H1113R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: H1113R

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
PDB:4NZO\|A	42	366	N/A	PDB
Pfam:His_Phos_2	379	894	6.9e-141	PFAM
low complexity region	993	1006	N/A	INTRINSIC
low complexity region	1192	1211	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137758

Predicted Effect

probably benign
Transcript: ENSMUST00000171129

SMART Domains

Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
PDB:4NZO\|A	42	366	N/A	PDB
Pfam:His_Phos_2	379	894	2.9e-112	PFAM
low complexity region	1073	1092	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189992

Predicted Effect

probably benign
Transcript: ENSMUST00000191556

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610507B11Rik	C	T	11: 78,271,924	L871F	possibly damaging	Het
4933430I17Rik	A	T	4: 62,546,067	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,429,379	R76*	probably null	Het
A1cf	G	A	19: 31,945,814	A505T	probably benign	Het
Abcc5	T	A	16: 20,422,400	I12F	probably damaging	Het
Abcf2	T	C	5: 24,566,564	E555G	probably damaging	Het
Acan	A	T	7: 79,100,285	E1601D	probably damaging	Het
Adam2	T	A	14: 66,037,606	K559N	probably benign	Het
Akap11	A	C	14: 78,510,089	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 122,895,568	D515G	probably benign	Het
Ankrd27	T	A	7: 35,619,371	N562K	probably damaging	Het
Atp10b	T	C	11: 43,153,304	I119T	probably benign	Het
Atr	T	C	9: 95,937,566	I2202T	probably benign	Het
BC067074	A	T	13: 113,369,143	I727F	probably damaging	Het
Brd4	T	A	17: 32,213,540		probably benign	Het
Catsperg2	C	T	7: 29,706,571	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,828,482		probably benign	Het
Cfap65	T	A	1: 74,927,071	I366F	probably damaging	Het
Cnga4	G	T	7: 105,407,668	R326L	probably damaging	Het
Cntnap5b	T	A	1: 100,072,153	M212K	probably benign	Het
Col6a6	T	A	9: 105,784,116	M265L	probably benign	Het
Cyp26b1	A	T	6: 84,574,556	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,150,746	M768K	probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Duox2	C	T	2: 122,292,304	V550M	probably benign	Het
Elmo2	A	G	2: 165,296,890	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,317,530	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Gm12253	T	C	11: 58,440,012		probably benign	Het
Gnat2	T	A	3: 108,095,562	Y95*	probably null	Het
Gopc	T	C	10: 52,350,678	K220E	probably damaging	Het
Hectd4	G	A	5: 121,254,251	D193N	possibly damaging	Het
Hexa	G	A	9: 59,554,226		probably null	Het
Hspa4l	T	C	3: 40,785,408		probably benign	Het
Hspa5	T	C	2: 34,774,320	S301P	probably damaging	Het
Ice1	A	T	13: 70,604,047	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,206,054	L17P	probably damaging	Het
Itk	T	C	11: 46,353,916	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,103,460	V560A	probably damaging	Het
Lama1	A	G	17: 67,817,569	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,806,851	C32*	probably null	Het
Lcp2	T	A	11: 34,069,854		probably benign	Het
Lhx9	C	T	1: 138,832,904	G236D	probably benign	Het
Lrrc38	A	T	4: 143,350,409	I81F	probably damaging	Het
Ly6a	C	T	15: 74,995,387	V94M	probably benign	Het
Map3k13	A	G	16: 21,914,157	E503G	probably damaging	Het
Mertk	T	C	2: 128,782,621		probably benign	Het
Mkl2	T	A	16: 13,412,163	I915N	probably damaging	Het
Msantd2	G	A	9: 37,523,219	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,706	L290*	probably null	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Naglu	T	A	11: 101,074,027	N313K	probably damaging	Het
Nceh1	T	C	3: 27,222,804	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,250,883	T47A	probably damaging	Het
Nrp1	T	A	8: 128,460,683	F403L	probably damaging	Het
Nxph3	T	C	11: 95,511,256	T111A	possibly damaging	Het
Obscn	T	A	11: 59,038,615	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,492,927	G1149W	probably damaging	Het
Olfr1162	C	T	2: 88,050,412	V71I	possibly damaging	Het
Olfr1370	T	A	13: 21,072,374	Y309F	probably benign	Het
Olfr1487	A	G	19: 13,619,485	T65A	probably benign	Het
Olfr267	A	T	4: 58,784,981	V247E	probably damaging	Het
Olfr292	A	G	7: 86,694,860	T135A	probably benign	Het
Olfr493	A	C	7: 108,346,914	D22E	probably benign	Het
Olfr814	T	A	10: 129,874,546	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,455,106	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,205,821		probably null	Het
Plvap	T	C	8: 71,511,382	N112S	probably damaging	Het
Pop1	T	A	15: 34,529,858		probably null	Het
Ptprk	A	T	10: 28,573,392	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,457,042	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,674,605	T565A	probably benign	Het
Rbm15	C	A	3: 107,331,155	R642S	probably damaging	Het
Rpsa	G	A	9: 120,131,003	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,686,810	S3303P	probably damaging	Het
Scg2	T	A	1: 79,435,512	N458I	possibly damaging	Het
Setx	A	G	2: 29,179,643	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,267,567		probably benign	Het
Slc8a2	T	A	7: 16,140,989	D387E	probably benign	Het
Smarcc2	A	G	10: 128,474,722	T407A	probably benign	Het
Snap25	A	G	2: 136,777,464	D179G	probably damaging	Het
Socs4	T	C	14: 47,289,868	S74P	probably benign	Het
Sp6	T	A	11: 97,021,925	Y155N	probably benign	Het
Srrt	C	T	5: 137,296,127		probably benign	Het
Steap1	C	T	5: 5,736,431	M335I	probably benign	Het
Stra6	A	T	9: 58,145,489	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582	S1421P	probably damaging	Het
Tcea3	G	A	4: 136,271,366	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,737,704	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,270,237	K89E	probably damaging	Het
Trp63	T	A	16: 25,764,302		probably benign	Het
Ube2d2a	A	G	18: 35,800,132	Y74C	probably damaging	Het
Usp19	T	G	9: 108,498,509	F885V	probably damaging	Het
Utp18	T	A	11: 93,882,177		probably benign	Het
Vmn2r116	T	C	17: 23,401,413	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Zfp318	C	T	17: 46,412,614	P1848S	probably benign	Het
Zfp984	G	T	4: 147,755,265	N376K	probably benign	Het

Other mutations in Ppip5k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01927:Ppip5k2	APN	1	97713123	missense	probably damaging	1.00
IGL02266:Ppip5k2	APN	1	97733972	missense	possibly damaging	0.68
IGL02705:Ppip5k2	APN	1	97759199	missense	probably damaging	1.00
IGL03229:Ppip5k2	APN	1	97728961	missense	probably damaging	1.00
P0033:Ppip5k2	UTSW	1	97717528	missense	probably damaging	0.98
R0082:Ppip5k2	UTSW	1	97759332	nonsense	probably null
R0242:Ppip5k2	UTSW	1	97741091	missense	probably damaging	1.00
R0242:Ppip5k2	UTSW	1	97741091	missense	probably damaging	1.00
R0267:Ppip5k2	UTSW	1	97728997	missense	probably damaging	1.00
R0373:Ppip5k2	UTSW	1	97740537	nonsense	probably null
R0402:Ppip5k2	UTSW	1	97719854	missense	probably benign	0.00
R0423:Ppip5k2	UTSW	1	97761427	missense	possibly damaging	0.95
R0613:Ppip5k2	UTSW	1	97752740	nonsense	probably null
R0751:Ppip5k2	UTSW	1	97749652	nonsense	probably null
R1121:Ppip5k2	UTSW	1	97756860	missense	probably damaging	1.00
R1265:Ppip5k2	UTSW	1	97719900	missense	probably benign	0.00
R1436:Ppip5k2	UTSW	1	97711782	missense	probably benign	0.04
R1543:Ppip5k2	UTSW	1	97740882	missense	probably damaging	1.00
R1739:Ppip5k2	UTSW	1	97728957	missense	probably damaging	1.00
R1845:Ppip5k2	UTSW	1	97723806	missense	possibly damaging	0.74
R2191:Ppip5k2	UTSW	1	97744110	missense	probably damaging	0.99
R2430:Ppip5k2	UTSW	1	97735030	missense	probably damaging	1.00
R2762:Ppip5k2	UTSW	1	97717509	missense	probably damaging	1.00
R3014:Ppip5k2	UTSW	1	97744075	missense	probably damaging	0.99
R3759:Ppip5k2	UTSW	1	97755885	critical splice donor site	probably null
R4603:Ppip5k2	UTSW	1	97755136	missense	probably damaging	1.00
R4772:Ppip5k2	UTSW	1	97721067	unclassified	probably benign
R4951:Ppip5k2	UTSW	1	97711749	missense	possibly damaging	0.77
R5348:Ppip5k2	UTSW	1	97747592	missense	possibly damaging	0.94
R5350:Ppip5k2	UTSW	1	97721128	missense	probably damaging	0.98
R5584:Ppip5k2	UTSW	1	97750641	missense	probably damaging	1.00
R5599:Ppip5k2	UTSW	1	97740598	missense	probably damaging	1.00
R5883:Ppip5k2	UTSW	1	97707810	missense	possibly damaging	0.53
R5898:Ppip5k2	UTSW	1	97744162	intron	probably benign
R6184:Ppip5k2	UTSW	1	97734005	missense	possibly damaging	0.89
R6221:Ppip5k2	UTSW	1	97730028	missense	probably damaging	1.00
R6775:Ppip5k2	UTSW	1	97719860	missense	possibly damaging	0.49
R7250:Ppip5k2	UTSW	1	97745462	missense	probably benign	0.00
R7329:Ppip5k2	UTSW	1	97750753	splice site	probably null
R7357:Ppip5k2	UTSW	1	97759216	missense	possibly damaging	0.91
R7852:Ppip5k2	UTSW	1	97741171	missense	probably damaging	0.99
R7884:Ppip5k2	UTSW	1	97740482	missense	probably benign	0.00
R8006:Ppip5k2	UTSW	1	97734106	missense	probably benign	0.00
R8134:Ppip5k2	UTSW	1	97745163	missense	probably benign	0.12
R8274:Ppip5k2	UTSW	1	97759216	missense	possibly damaging	0.91
R8436:Ppip5k2	UTSW	1	97755888	missense	probably benign
R8440:Ppip5k2	UTSW	1	97747551	missense	probably damaging	0.99
R8895:Ppip5k2	UTSW	1	97711819	missense	probably benign
R9017:Ppip5k2	UTSW	1	97727414	missense	probably damaging	1.00
R9061:Ppip5k2	UTSW	1	97717462	missense	probably damaging	1.00
Z1177:Ppip5k2	UTSW	1	97716605	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCACATCCAGTTGTGTTTCAGCC -3'
(R):5'- TGCCTGTACCATCAAGCCAGTTTAC -3'

Sequencing Primer
(F):5'- ACCTTTAAAAGTCTCAGTGGGGTC -3'
(R):5'- AGCCAGTTTACTGCTTTTAACCAG -3'

Posted On

2013-05-23