Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Ppip5k2'

457623

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Vip2

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97706048-97770411 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 97744162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132889 (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

probably benign
Transcript: ENSMUST00000112845

SMART Domains

Protein: ENSMUSP00000108466
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	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: ENSMUST00000152788

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,612,900	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,615,208	M179I	probably benign	Het
5430419D17Rik	T	G	7: 131,241,967		probably null	Het
Abhd12	T	C	2: 150,839,778	I231V	possibly damaging	Het
Adsl	A	G	15: 80,961,353		probably null	Het
Ahnak	C	A	19: 9,013,767	N4138K	possibly damaging	Het
Ahnak	T	C	19: 9,018,211	S5620P	probably damaging	Het
Akap13	C	T	7: 75,729,146	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,307,623	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,580,773	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,186,272	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,958	I48V	probably benign	Het
BC051665	A	C	13: 60,782,704	V278G	probably damaging	Het
Bicd1	A	T	6: 149,513,703	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,274,231	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,144,538	R496L	probably benign	Het
Cep44	C	G	8: 56,541,021	V174L	probably damaging	Het
Clca1	G	T	3: 145,016,761	F283L	possibly damaging	Het
Csk	T	C	9: 57,630,302	T110A	probably benign	Het
Cspg4	T	A	9: 56,885,222		probably null	Het
Cutc	A	G	19: 43,760,029	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,455,524	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,577,714	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,204,657		probably null	Het
Dcaf15	G	T	8: 84,098,452	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,602,668	I723K	probably damaging	Het
Dnah17	C	T	11: 118,114,213	A782T	probably benign	Het
Dnah3	T	C	7: 120,078,501	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717	N909S	probably benign	Het
Erbin	A	G	13: 103,839,305		probably null	Het
Fanci	G	A	7: 79,433,321	V682I	probably benign	Het
Fap	A	T	2: 62,573,503	F9L	probably benign	Het
Fat3	T	C	9: 15,938,461	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,326,057		probably null	Het
Fsd2	T	C	7: 81,537,227	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,950,261		noncoding transcript	Het
Gramd4	G	T	15: 86,100,784	G82V	probably damaging	Het
Hc	C	T	2: 34,997,437	V1352I	probably benign	Het
Hsph1	A	T	5: 149,625,158	N466K	probably damaging	Het
Ice2	T	A	9: 69,408,262	D133E	probably benign	Het
Ifi213	T	C	1: 173,568,979	M510V	probably benign	Het
Itpkb	T	G	1: 180,421,315	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476	D283E	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Masp1	T	A	16: 23,491,927	I252F	probably damaging	Het
Megf11	G	T	9: 64,685,964	C586F	probably damaging	Het
Myh2	C	A	11: 67,192,719	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,802,330		probably null	Het
Naip6	A	T	13: 100,299,321	V898E	possibly damaging	Het
Nav1	T	C	1: 135,585,146	M59V	probably benign	Het
Nlrp3	A	T	11: 59,546,852	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,357,484	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,422,965	W269R	probably damaging	Het
Peak1	T	A	9: 56,207,338	T1440S	probably benign	Het
Piezo1	A	G	8: 122,487,943	V1547A	probably benign	Het
Pkp1	T	C	1: 135,882,521	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,422,760	D1329G	probably damaging	Het
Prrg4	C	T	2: 104,845,033	S75N	probably benign	Het
Psmb9	T	A	17: 34,182,292	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,161,965	L23*	probably null	Het
Sbno1	A	T	5: 124,386,791		probably benign	Het
Scn3a	T	C	2: 65,514,695	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,824,822	D46E	probably benign	Het
Selenov	A	G	7: 28,288,154	F293L	probably damaging	Het
Sept2	A	C	1: 93,479,301	D20A	probably benign	Het
Shc1	T	A	3: 89,426,967	Y313*	probably null	Het
Siglec1	T	A	2: 131,073,633	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,873,733	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,544,760	N152S	probably damaging	Het
Smoc1	C	T	12: 81,104,757	R83*	probably null	Het
Ssx2ip	A	G	3: 146,427,831	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,617,372	D576G	probably damaging	Het
Tbx20	T	A	9: 24,758,859	Y226F	probably damaging	Het
Trav10d	G	T	14: 52,811,472	A107S	probably damaging	Het
Trim60	A	T	8: 65,000,364	L411*	probably null	Het
Ttbk2	A	T	2: 120,745,040	V1083D	probably benign	Het
Unc93a	T	A	17: 13,125,577	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819	N65I	possibly damaging	Het
Vip	A	T	10: 5,643,988	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,314,551	I179F	probably damaging	Het
Wdr47	T	A	3: 108,637,885		probably null	Het
Zfp975	A	T	7: 42,662,539	C217S	probably damaging	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
R0281:Ppip5k2	UTSW	1	97716553	missense	possibly damaging	0.95
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
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
R9441:Ppip5k2	UTSW	1	97745196	missense	probably benign	0.00
R9533:Ppip5k2	UTSW	1	97734067	missense	probably benign	0.11
R9715:Ppip5k2	UTSW	1	97749587	missense
R9792:Ppip5k2	UTSW	1	97744097	nonsense	probably null
R9793:Ppip5k2	UTSW	1	97744097	nonsense	probably null
R9795:Ppip5k2	UTSW	1	97744097	nonsense	probably null
Z1177:Ppip5k2	UTSW	1	97716605	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTAAGCAGCACACCAATCCC -3'
(R):5'- CTGTGCCTATCTGTACAGTGTT -3'

Sequencing Primer
(F):5'- TCCCAAAACCTACTGAACAGGAAATG -3'
(R):5'- GCCTATCTGTACAGTGTTTTCAGAC -3'

Posted On

2017-02-15