Mutagenetix > Incidental Mutation

Incidental Mutation 'R6775:Ppip5k2'

532319

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Cfap160, Vip2

MMRRC Submission

044891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R6775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97633773-97698136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97647585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1047 (V1047E)

Ref Sequence

ENSEMBL: ENSMUSP00000108466 (fasta)

Gene Model

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

AlphaFold

Q6ZQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000042509
AA Change: V995E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
AA Change: V995E

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: V1047E

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: V1047E

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

probably benign
Transcript: ENSMUST00000171129
AA Change: V989E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
AA Change: V989E

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: ENSMUST00000191556

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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
Adamts6	G	A	13: 104,450,160 (GRCm39)	V289M	probably damaging	Het
Atp10b	A	G	11: 43,113,040 (GRCm39)	D862G	possibly damaging	Het
Ccn6	T	C	10: 39,027,351 (GRCm39)	T294A	probably damaging	Het
Colec10	A	G	15: 54,298,419 (GRCm39)	E60G	possibly damaging	Het
Cpne1	A	G	2: 155,920,340 (GRCm39)	V179A	probably damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gmip	A	G	8: 70,268,285 (GRCm39)	D423G	possibly damaging	Het
Ints15	C	A	5: 143,297,493 (GRCm39)	V185L	probably benign	Het
Klk1b24	A	G	7: 43,840,889 (GRCm39)	M106V	probably benign	Het
Or14c39	A	G	7: 86,344,357 (GRCm39)	E231G	probably benign	Het
Or7g30	A	T	9: 19,352,718 (GRCm39)	T170S	possibly damaging	Het
Or8k40	G	A	2: 86,584,921 (GRCm39)	R54C	probably damaging	Het
Orc1	T	A	4: 108,460,652 (GRCm39)	F496I	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf11b	A	T	14: 59,576,094 (GRCm39)	N47K	probably benign	Het
Plscr4	G	A	9: 92,364,858 (GRCm39)	M94I	probably benign	Het
Scn3a	A	G	2: 65,352,159 (GRCm39)	Y384H	possibly damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Smc1b	T	C	15: 84,973,881 (GRCm39)	E925G	probably damaging	Het
Sorl1	A	G	9: 42,003,748 (GRCm39)	Y183H	possibly damaging	Het
Tarbp1	A	C	8: 127,163,568 (GRCm39)	D1151E	probably benign	Het
Vmn2r3	T	C	3: 64,183,039 (GRCm39)	H220R	possibly damaging	Het
Wdr5	A	G	2: 27,423,386 (GRCm39)	Y260C	probably damaging	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
P0033:Ppip5k2	UTSW	1	97,645,253 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGCAGTTAGTCACCACAG -3'
(R):5'- GGGGATCTTGCATGAACTTTC -3'

Sequencing Primer
(F):5'- GCAGTTAGTCACCACAGAGTAGTC -3'
(R):5'- TGGAACAGGGTGCATATG -3'

Posted On

2018-08-29