Mutagenetix > Incidental Mutations

Incidental Mutation 'R6276:Ppip5k1'

507621

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

Hisppd2a, B430315C20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R6276 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

121310561-121355396 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 121323203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000155568]

AlphaFold

A2ARP1

Predicted Effect

probably benign
Transcript: ENSMUST00000052029

SMART Domains

Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526

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

probably benign
Transcript: ENSMUST00000110625

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526

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

probably benign
Transcript: ENSMUST00000110626

SMART Domains

Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526

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

probably benign
Transcript: ENSMUST00000110627

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526

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

probably benign
Transcript: ENSMUST00000110628

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526

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

probably benign
Transcript: ENSMUST00000127255

SMART Domains

Protein: ENSMUSP00000118597
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	54	6.7e-9	PFAM
low complexity region	142	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132114

SMART Domains

Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	117	1.4e-30	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000132613
AA Change: C161S

Predicted Effect

probably benign
Transcript: ENSMUST00000155568

SMART Domains

Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	107	8.6e-23	PFAM

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	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
lapidus	UTSW	2	121337463	missense	probably benign	0.29
Roca	UTSW	2	121336751	missense	probably damaging	0.98
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	splice site	probably null
R3414:Ppip5k1	UTSW	2	121327661	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R4569:Ppip5k1	UTSW	2	121343563	missense	possibly damaging	0.69
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
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
R7841:Ppip5k1	UTSW	2	121342795	missense	probably benign	0.13
R7877:Ppip5k1	UTSW	2	121316754	missense	probably benign	0.01
R7896:Ppip5k1	UTSW	2	121347330	missense	probably damaging	1.00
R7901:Ppip5k1	UTSW	2	121311909	missense	probably damaging	0.99
R7911:Ppip5k1	UTSW	2	121342658	missense	possibly damaging	0.89
R8167:Ppip5k1	UTSW	2	121342801	nonsense	probably null
R8179:Ppip5k1	UTSW	2	121341614	critical splice donor site	probably null
R8766:Ppip5k1	UTSW	2	121336438	nonsense	probably null
R8954:Ppip5k1	UTSW	2	121323220	unclassified	probably benign
R8981:Ppip5k1	UTSW	2	121327640	unclassified	probably benign
R9127:Ppip5k1	UTSW	2	121327644	critical splice donor site	probably null
R9165:Ppip5k1	UTSW	2	121331564	missense	probably damaging	1.00
R9244:Ppip5k1	UTSW	2	121334451	missense	probably benign	0.30
R9338:Ppip5k1	UTSW	2	121323346	missense
X0020:Ppip5k1	UTSW	2	121341655	missense	probably damaging	0.99
Z1176:Ppip5k1	UTSW	2	121337866	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTACAACTACCAGGCAGC -3'
(R):5'- ACGCTTGTGTCAGTCAGTG -3'

Sequencing Primer
(F):5'- GCAGCCTGGCCCCAATC -3'
(R):5'- GTGTCAGTCAGTGCCCCTCAC -3'

Posted On

2018-03-15