Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Ppip5k2'

207606

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Cfap160, Vip2

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

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

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97633773-97698136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97651531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 928 (D928G)

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: D934G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
AA Change: D934G

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: D928G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: D928G

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: D928G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
AA Change: D928G

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,729,161 (GRCm39)	I567L	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Foxp4	T	A	17: 48,188,884 (GRCm39)	T321S	probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,678,746 (GRCm39)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,286,468 (GRCm39)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,227,528 (GRCm39)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	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
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

Predicted Primers

PCR Primer
(F):5'- GGTTAGCTTGCCCTGTACAG -3'
(R):5'- AGCTGGCTGTTAGTTATCAGAAG -3'

Sequencing Primer
(F):5'- TGTACAGGACACACTCTCCATAG -3'
(R):5'- CAGAAGCATTTTATTGACGTTTAGAG -3'

Posted On

2014-06-23