Mutagenetix > Incidental Mutations

Incidental Mutation 'R4569:Ppip5k1'

341974

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

Hisppd2a, B430315C20Rik

MMRRC Submission

041793-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121310561-121355396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121343563 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 359 (R359Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052029
AA Change: R359Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: R359Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.8e-110	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110625
AA Change: R359Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: R359Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110626
AA Change: R359Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: R359Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	1.1e-135	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110627
AA Change: R359Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: R359Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110628
AA Change: R359Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: R359Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	886	3.9e-101	PFAM
low complexity region	1143	1161	N/A	INTRINSIC
coiled coil region	1382	1410	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134644

Predicted Effect

probably benign
Transcript: ENSMUST00000137087

SMART Domains

Protein: ENSMUSP00000115051
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
PDB:4NZO\|A	2	67	3e-29	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150081

Meta Mutation Damage Score

0.1632

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,625,838	T322A	probably benign	Het
Abhd13	C	T	8: 9,988,071	P223S	possibly damaging	Het
Adgra3	T	A	5: 49,960,563	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,789,312	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,849,544	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,976,373		probably benign	Het
Arid2	T	A	15: 96,392,462	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,609,207	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,986,000	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,151,910		probably null	Het
Cdk2ap2	T	C	19: 4,097,879	F49L	possibly damaging	Het
Cdon	A	T	9: 35,476,969	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,193,323	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,306,992	R508W	probably damaging	Het
Dclk1	T	C	3: 55,247,410	L87P	probably damaging	Het
Ddx41	G	A	13: 55,536,021	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,852,360	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,411,659	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,657,166		probably null	Het
Dph1	A	T	11: 75,178,895		probably benign	Het
Egln2	A	G	7: 27,159,583	I382T	probably damaging	Het
Enpp3	A	G	10: 24,776,882	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,181,477	F353L	probably damaging	Het
Fchsd2	G	A	7: 101,277,602	G657D	possibly damaging	Het
Fer1l4	T	A	2: 156,036,639	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,100,305	V149I	probably benign	Het
Glipr1l1	A	G	10: 112,062,412	M141V	probably benign	Het
Gnaq	T	C	19: 16,335,006	S211P	probably damaging	Het
Gnl1	A	G	17: 35,988,250	R527G	probably benign	Het
Gns	A	G	10: 121,381,178	Q286R	probably benign	Het
Gon4l	T	C	3: 88,910,090		probably benign	Het
Gpr107	T	C	2: 31,207,665		probably benign	Het
Gprasp1	C	T	X: 135,802,843	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,411,003	D124E	probably damaging	Het
Hbp1	T	A	12: 31,950,232		probably benign	Het
Hrnr	C	T	3: 93,323,568	T371I	unknown	Het
Ints2	A	G	11: 86,256,198	C41R	probably damaging	Het
Jhy	A	G	9: 40,911,093	I583T	probably benign	Het
Jph4	G	T	14: 55,115,046	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhl12	A	T	1: 134,485,769	I331F	probably benign	Het
Map4k4	G	A	1: 40,000,538	R30Q	probably damaging	Het
Mettl11b	T	A	1: 163,703,017	*284C	probably null	Het
Mgst1	C	A	6: 138,156,215	T176K	probably damaging	Het
Negr1	C	A	3: 157,208,376		probably benign	Het
Nrg1	C	T	8: 31,917,774	V144I	probably benign	Het
Olfr51	T	C	11: 51,007,554	I194T	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Pex11b	A	T	3: 96,644,014		probably benign	Het
Phtf2	T	C	5: 20,789,595		probably benign	Het
Prickle2	T	C	6: 92,422,342	I185V	probably benign	Het
Prrc2a	G	A	17: 35,158,497	P562S	unknown	Het
Rdx	A	G	9: 52,068,841	I245V	probably benign	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rhob	T	G	12: 8,499,373	D87A	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sbf2	A	G	7: 110,348,853		probably null	Het
Sipa1l3	G	T	7: 29,325,862	P619Q	probably damaging	Het
Snupn	A	G	9: 56,978,062	E217G	probably benign	Het
Ston2	T	A	12: 91,639,722	*896C	probably null	Het
Stradb	C	T	1: 58,979,958	R13*	probably null	Het
Tbx21	G	A	11: 97,114,755	A128V	probably benign	Het
Tep1	A	T	14: 50,824,740	C2552S	probably benign	Het
Tgif1	A	T	17: 70,844,917	V233E	possibly damaging	Het
Trim31	A	T	17: 36,898,741	I130L	probably benign	Het
Trrap	C	T	5: 144,792,118	T614I	probably benign	Het
Ttn	C	A	2: 76,936,414	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,456,206	D322E	probably benign	Het
Unc45b	T	A	11: 82,936,489		probably null	Het
Usp43	A	T	11: 67,875,352	L744*	probably null	Het
Usp43	C	T	11: 67,898,962	C252Y	probably damaging	Het
Vmn2r71	A	C	7: 85,624,194	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,442,204	T653M	probably benign	Het
Wdr83os	T	A	8: 85,081,866	S82R	probably damaging	Het
Xpo6	T	A	7: 126,128,255	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,401,834	V2351I	probably benign	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het

Other mutations in Ppip5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ppip5k1	APN	2	121347358	missense	probably damaging	1.00
IGL01154:Ppip5k1	APN	2	121343179	missense	probably damaging	1.00
IGL01341:Ppip5k1	APN	2	121343210	nonsense	probably null
IGL01704:Ppip5k1	APN	2	121312074	missense	possibly damaging	0.74
IGL01949:Ppip5k1	APN	2	121337860	missense	probably benign
IGL02101:Ppip5k1	APN	2	121331608	missense	possibly damaging	0.84
IGL02499:Ppip5k1	APN	2	121331553	splice site	probably null
IGL02701:Ppip5k1	APN	2	121316649	splice site	probably null
IGL03188:Ppip5k1	APN	2	121326846	unclassified	probably benign
R0363:Ppip5k1	UTSW	2	121347355	missense	probably damaging	1.00
R1315:Ppip5k1	UTSW	2	121312005	missense	probably benign	0.13
R1664:Ppip5k1	UTSW	2	121337182	missense	probably benign	0.02
R1753:Ppip5k1	UTSW	2	121342631	missense	probably damaging	1.00
R1759:Ppip5k1	UTSW	2	121350586	missense	probably benign	0.32
R1763:Ppip5k1	UTSW	2	121348547	missense	probably damaging	1.00
R2033:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R2037:Ppip5k1	UTSW	2	121343193	missense	probably damaging	1.00
R2066:Ppip5k1	UTSW	2	121342871	unclassified	probably benign
R2103:Ppip5k1	UTSW	2	121321653	unclassified	probably null
R3414:Ppip5k1	UTSW	2	121327661	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R4783:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R4843:Ppip5k1	UTSW	2	121326887	missense	probably damaging	1.00
R4981:Ppip5k1	UTSW	2	121312390	missense	probably damaging	1.00
R5353:Ppip5k1	UTSW	2	121311720	missense	probably benign	0.00
R5493:Ppip5k1	UTSW	2	121336772	missense	probably damaging	1.00
R5654:Ppip5k1	UTSW	2	121316676	missense	probably benign	0.00
R5835:Ppip5k1	UTSW	2	121337899	missense	probably benign	0.01
R5987:Ppip5k1	UTSW	2	121350491	nonsense	probably null
R6076:Ppip5k1	UTSW	2	121337110	missense	probably null	1.00
R6088:Ppip5k1	UTSW	2	121337463	missense	probably benign	0.29
R6276:Ppip5k1	UTSW	2	121323203	unclassified	probably benign
R6555:Ppip5k1	UTSW	2	121337612	missense	probably damaging	0.99
R6878:Ppip5k1	UTSW	2	121311936	missense	probably benign	0.00
R7075:Ppip5k1	UTSW	2	121321750	missense	probably damaging	1.00
R7251:Ppip5k1	UTSW	2	121347571	missense	probably benign	0.05
R7332:Ppip5k1	UTSW	2	121311969	missense	probably damaging	0.96
R7359:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R7462:Ppip5k1	UTSW	2	121336751	missense	probably damaging	0.98
R7568:Ppip5k1	UTSW	2	121337615	missense	probably damaging	1.00
R7654:Ppip5k1	UTSW	2	121348559	missense	probably damaging	1.00
R7678:Ppip5k1	UTSW	2	121337661	missense	probably damaging	1.00
X0020:Ppip5k1	UTSW	2	121341655	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTCAGACAGTCAACAGC -3'
(R):5'- TAGCTTGCTCATCATTGCCG -3'

Sequencing Primer
(F):5'- CAGGAAAGAACTGGTCTGGCTTAAG -3'
(R):5'- CGTGCATTTATTTCTGCCTTAAATGG -3'

Posted On

2015-09-24