Mutagenetix > Incidental Mutation

Incidental Mutation 'P0033:Ppip5k2'

7825

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Cfap160, Vip2

MMRRC Submission

038284-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97633773-97698136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97645253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1067 (V1067A)

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

probably damaging
Transcript: ENSMUST00000112845
AA Change: V1067A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: V1067A

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

0.0611

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,221,778 (GRCm39)	S241P	probably damaging	Het
Dusp19	T	A	2: 80,447,729 (GRCm39)	M1K	probably null	Het
Egfem1	G	C	3: 29,744,340 (GRCm39)	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,730,023 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,712 (GRCm39)	Y160C	probably damaging	Het
Hmg20a	A	G	9: 56,397,108 (GRCm39)	S303G	probably benign	Het
Lmbrd1	A	G	1: 24,724,646 (GRCm39)	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,007,959 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,402,255 (GRCm39)	V696I	probably benign	Het
Orm3	A	T	4: 63,274,539 (GRCm39)	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,353,222 (GRCm39)	E1004G	probably damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Ptprd	T	A	4: 76,047,091 (GRCm39)	R392*	probably null	Het
Rad54b	T	A	4: 11,609,285 (GRCm39)		probably benign	Het
Rapgef4	T	C	2: 71,967,675 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,668,089 (GRCm39)	N134S	probably benign	Het
Sfswap	C	T	5: 129,616,819 (GRCm39)	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,141,345 (GRCm39)	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,924,997 (GRCm39)	E132K	probably damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Ttc16	T	A	2: 32,652,586 (GRCm39)	T691S	probably benign	Het
Usp38	C	T	8: 81,708,525 (GRCm39)	D1018N	probably benign	Het
Zcchc14	A	C	8: 122,336,898 (GRCm39)		probably benign	Het

Other mutations in Ppip5k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01927:Ppip5k2	APN	1	97,640,848 (GRCm39)	missense	probably damaging	1.00
IGL02266:Ppip5k2	APN	1	97,661,697 (GRCm39)	missense	possibly damaging	0.68
IGL02705:Ppip5k2	APN	1	97,686,924 (GRCm39)	missense	probably damaging	1.00
IGL03229:Ppip5k2	APN	1	97,656,686 (GRCm39)	missense	probably damaging	1.00
R0082:Ppip5k2	UTSW	1	97,687,057 (GRCm39)	nonsense	probably null
R0242:Ppip5k2	UTSW	1	97,668,816 (GRCm39)	missense	probably damaging	1.00
R0242:Ppip5k2	UTSW	1	97,668,816 (GRCm39)	missense	probably damaging	1.00
R0267:Ppip5k2	UTSW	1	97,656,722 (GRCm39)	missense	probably damaging	1.00
R0281:Ppip5k2	UTSW	1	97,644,278 (GRCm39)	missense	possibly damaging	0.95
R0373:Ppip5k2	UTSW	1	97,668,262 (GRCm39)	nonsense	probably null
R0402:Ppip5k2	UTSW	1	97,647,579 (GRCm39)	missense	probably benign	0.00
R0423:Ppip5k2	UTSW	1	97,689,152 (GRCm39)	missense	possibly damaging	0.95
R0613:Ppip5k2	UTSW	1	97,680,465 (GRCm39)	nonsense	probably null
R0751:Ppip5k2	UTSW	1	97,677,377 (GRCm39)	nonsense	probably null
R1121:Ppip5k2	UTSW	1	97,684,585 (GRCm39)	missense	probably damaging	1.00
R1265:Ppip5k2	UTSW	1	97,647,625 (GRCm39)	missense	probably benign	0.00
R1436:Ppip5k2	UTSW	1	97,639,507 (GRCm39)	missense	probably benign	0.04
R1543:Ppip5k2	UTSW	1	97,668,607 (GRCm39)	missense	probably damaging	1.00
R1739:Ppip5k2	UTSW	1	97,656,682 (GRCm39)	missense	probably damaging	1.00
R1845:Ppip5k2	UTSW	1	97,651,531 (GRCm39)	missense	possibly damaging	0.74
R2191:Ppip5k2	UTSW	1	97,671,835 (GRCm39)	missense	probably damaging	0.99
R2430:Ppip5k2	UTSW	1	97,662,755 (GRCm39)	missense	probably damaging	1.00
R2762:Ppip5k2	UTSW	1	97,645,234 (GRCm39)	missense	probably damaging	1.00
R3014:Ppip5k2	UTSW	1	97,671,800 (GRCm39)	missense	probably damaging	0.99
R3759:Ppip5k2	UTSW	1	97,683,610 (GRCm39)	critical splice donor site	probably null
R4603:Ppip5k2	UTSW	1	97,682,861 (GRCm39)	missense	probably damaging	1.00
R4772:Ppip5k2	UTSW	1	97,648,792 (GRCm39)	unclassified	probably benign
R4951:Ppip5k2	UTSW	1	97,639,474 (GRCm39)	missense	possibly damaging	0.77
R5348:Ppip5k2	UTSW	1	97,675,317 (GRCm39)	missense	possibly damaging	0.94
R5350:Ppip5k2	UTSW	1	97,648,853 (GRCm39)	missense	probably damaging	0.98
R5584:Ppip5k2	UTSW	1	97,678,366 (GRCm39)	missense	probably damaging	1.00
R5599:Ppip5k2	UTSW	1	97,668,323 (GRCm39)	missense	probably damaging	1.00
R5883:Ppip5k2	UTSW	1	97,635,535 (GRCm39)	missense	possibly damaging	0.53
R5898:Ppip5k2	UTSW	1	97,671,887 (GRCm39)	intron	probably benign
R6184:Ppip5k2	UTSW	1	97,661,730 (GRCm39)	missense	possibly damaging	0.89
R6221:Ppip5k2	UTSW	1	97,657,753 (GRCm39)	missense	probably damaging	1.00
R6775:Ppip5k2	UTSW	1	97,647,585 (GRCm39)	missense	possibly damaging	0.49
R7250:Ppip5k2	UTSW	1	97,673,187 (GRCm39)	missense	probably benign	0.00
R7329:Ppip5k2	UTSW	1	97,678,478 (GRCm39)	splice site	probably null
R7357:Ppip5k2	UTSW	1	97,686,941 (GRCm39)	missense	possibly damaging	0.91
R7852:Ppip5k2	UTSW	1	97,668,896 (GRCm39)	missense	probably damaging	0.99
R7884:Ppip5k2	UTSW	1	97,668,207 (GRCm39)	missense	probably benign	0.00
R8006:Ppip5k2	UTSW	1	97,661,831 (GRCm39)	missense	probably benign	0.00
R8134:Ppip5k2	UTSW	1	97,672,888 (GRCm39)	missense	probably benign	0.12
R8274:Ppip5k2	UTSW	1	97,686,941 (GRCm39)	missense	possibly damaging	0.91
R8436:Ppip5k2	UTSW	1	97,683,613 (GRCm39)	missense	probably benign
R8440:Ppip5k2	UTSW	1	97,675,276 (GRCm39)	missense	probably damaging	0.99
R8895:Ppip5k2	UTSW	1	97,639,544 (GRCm39)	missense	probably benign
R9017:Ppip5k2	UTSW	1	97,655,139 (GRCm39)	missense	probably damaging	1.00
R9061:Ppip5k2	UTSW	1	97,645,187 (GRCm39)	missense	probably damaging	1.00
R9441:Ppip5k2	UTSW	1	97,672,921 (GRCm39)	missense	probably benign	0.00
R9533:Ppip5k2	UTSW	1	97,661,792 (GRCm39)	missense	probably benign	0.11
R9715:Ppip5k2	UTSW	1	97,677,312 (GRCm39)	missense
R9792:Ppip5k2	UTSW	1	97,671,822 (GRCm39)	nonsense	probably null
R9793:Ppip5k2	UTSW	1	97,671,822 (GRCm39)	nonsense	probably null
R9795:Ppip5k2	UTSW	1	97,671,822 (GRCm39)	nonsense	probably null
Z1177:Ppip5k2	UTSW	1	97,644,330 (GRCm39)	critical splice acceptor site	probably null

Posted On

2012-10-29