Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Ppip5k2'

632144

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Vip2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R8134 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

97706048-97770411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97745163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 474 (M474K)

Ref Sequence

ENSEMBL: ENSMUSP00000043401 (fasta)

Gene Model

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

AlphaFold

Q6ZQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000042509
AA Change: M474K

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
AA Change: M474K

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
AA Change: M468K

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: M468K

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: M468K

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
AA Change: M468K

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	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
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
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
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'- GCTAAGCAGGGCTGAATGTC -3'
(R):5'- CAATTACAGGCAAGTTTGTTGGG -3'

Sequencing Primer
(F):5'- GTCAGATTCAGTTAGCTATGTGATC -3'
(R):5'- TGAATGCTGAGCTTAATTTTTAATGG -3'

Posted On

2020-06-30