Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Ppip5k2'

563795

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k2

Ensembl Gene

ENSMUSG00000040648

Gene Name

diphosphoinositol pentakisphosphate kinase 2

Synonyms

Hisppd1, Cfap160, Vip2

MMRRC Submission

045350-MU

Accession Numbers

Essential gene?

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

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97633773-97698136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 97673187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 415 (D415A)

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: D415A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
AA Change: D415A

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 damaging
Transcript: ENSMUST00000112845
AA Change: D409A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: D409A

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: D409A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
AA Change: D409A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035 (GRCm39)	M108L	probably benign	Het
Adgrf3	T	A	5: 30,400,680 (GRCm39)	I934L	probably damaging	Het
Adprm	A	G	11: 66,932,450 (GRCm39)	V153A	probably benign	Het
Aif1l	G	A	2: 31,859,764 (GRCm39)	V109M	probably damaging	Het
Asphd1	T	A	7: 126,545,942 (GRCm39)	E307V	probably damaging	Het
Ate1	T	A	7: 130,121,701 (GRCm39)		probably benign	Het
Borcs7	A	G	19: 46,688,047 (GRCm39)	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,339,176 (GRCm39)	*282W	probably null	Het
Cacna1c	A	G	6: 118,574,966 (GRCm39)	C1985R		Het
Cacna1c	A	T	6: 118,673,412 (GRCm39)	V647E		Het
Cacna1d	A	G	14: 29,797,108 (GRCm39)	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,576,235 (GRCm39)	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,260,906 (GRCm39)	L206H	probably damaging	Het
Cenatac	A	G	9: 44,323,748 (GRCm39)		probably null	Het
Cspg4b	T	G	13: 113,455,349 (GRCm39)	I465R		Het
D430041D05Rik	T	C	2: 104,086,961 (GRCm39)	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,119,546 (GRCm39)	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Ddx52	G	A	11: 83,835,392 (GRCm39)	G106D	probably benign	Het
Dock2	A	G	11: 34,586,032 (GRCm39)	V550A	probably benign	Het
Dock2	C	T	11: 34,586,120 (GRCm39)	D521N	probably damaging	Het
F13b	T	C	1: 139,444,227 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,908,892 (GRCm39)	K431R	possibly damaging	Het
Fez1	C	T	9: 36,779,090 (GRCm39)	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391 (GRCm39)	Q229L	probably benign	Het
Gpr45	T	A	1: 43,071,531 (GRCm39)	I58N	probably damaging	Het
Gstm1	T	A	3: 107,923,709 (GRCm39)	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,564,225 (GRCm39)	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,486,481 (GRCm39)	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,494,016 (GRCm39)	I188T	possibly damaging	Het
Hfm1	T	C	5: 107,052,197 (GRCm39)	I300V	probably benign	Het
Hnrnpr	T	G	4: 136,059,746 (GRCm39)	D283E	probably benign	Het
Hsp90b1	T	C	10: 86,527,572 (GRCm39)	E768G	unknown	Het
Kcna4	C	A	2: 107,126,663 (GRCm39)	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 28,931,619 (GRCm39)	L97P	probably benign	Het
Kics2	T	C	10: 121,581,376 (GRCm39)	S126P	possibly damaging	Het
Klf5	A	G	14: 99,536,455 (GRCm39)	S9G	probably benign	Het
Kmt2c	C	A	5: 25,504,489 (GRCm39)	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,514,805 (GRCm39)	T3013A	probably benign	Het
Lancl1	A	G	1: 67,048,458 (GRCm39)	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,088,085 (GRCm39)		probably benign	Het
Lrrc66	T	A	5: 73,768,224 (GRCm39)	H239L	probably benign	Het
Ltbp2	C	T	12: 84,834,166 (GRCm39)	W1441*	probably null	Het
Man2a1	T	C	17: 64,943,583 (GRCm39)	S213P	probably benign	Het
Mapre2	C	T	18: 23,991,119 (GRCm39)	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427 (GRCm39)	D1155E	probably damaging	Het
Mki67	T	C	7: 135,301,053 (GRCm39)	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,348,664 (GRCm39)	I279T	probably damaging	Het
Myo5c	A	G	9: 75,169,497 (GRCm39)	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,258,143 (GRCm39)	V587G	possibly damaging	Het
Npas2	A	T	1: 39,377,188 (GRCm39)	T517S	probably damaging	Het
Npy1r	T	C	8: 67,157,712 (GRCm39)	S341P	probably benign	Het
Ntm	A	G	9: 29,322,988 (GRCm39)	W11R	probably benign	Het
Nxpe2	A	T	9: 48,238,096 (GRCm39)	I53N	possibly damaging	Het
Onecut2	T	C	18: 64,519,511 (GRCm39)	F443L	probably benign	Het
Or10g6	T	A	9: 39,934,050 (GRCm39)	Y120*	probably null	Het
Or2r2	A	G	6: 42,463,689 (GRCm39)	V146A	probably benign	Het
Or52ac1	A	T	7: 104,245,738 (GRCm39)	Y217N	probably damaging	Het
Parp2	T	A	14: 51,054,801 (GRCm39)	V248E	probably benign	Het
Pcdh12	C	A	18: 38,415,029 (GRCm39)	V699L	probably benign	Het
Pja2	G	A	17: 64,616,451 (GRCm39)	P148L	probably benign	Het
Poglut3	C	T	9: 53,301,821 (GRCm39)	Q158*	probably null	Het
Prss47	A	G	13: 65,200,355 (GRCm39)	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767 (GRCm38)	M723I	probably benign	Het
Qsox2	A	T	2: 26,118,444 (GRCm39)	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,041,853 (GRCm39)	E217G	probably benign	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rgs12	T	A	5: 35,122,841 (GRCm39)	F208Y	probably damaging	Het
Rin3	C	T	12: 102,334,893 (GRCm39)	T268I	unknown	Het
Rttn	T	A	18: 89,007,647 (GRCm39)	D427E	probably benign	Het
Samd13	G	A	3: 146,352,079 (GRCm39)	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201 (GRCm39)	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,866,496 (GRCm39)	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,261,852 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,616,708 (GRCm39)	T197S	probably benign	Het
Slc20a1	A	T	2: 129,051,844 (GRCm39)	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,533,865 (GRCm39)	M186K	probably benign	Het
Slc39a13	T	C	2: 90,893,503 (GRCm39)	T319A	probably benign	Het
Slc44a4	T	C	17: 35,137,520 (GRCm39)		probably null	Het
St3gal1	A	C	15: 66,978,578 (GRCm39)	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,248,074 (GRCm39)	N265S	probably benign	Het
Sult2b1	A	T	7: 45,433,361 (GRCm39)	V2D	unknown	Het
Supv3l1	T	A	10: 62,280,846 (GRCm39)	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,423,105 (GRCm39)		probably null	Het
Tenm2	C	A	11: 35,963,625 (GRCm39)	L935F	probably damaging	Het
Tnks	T	A	8: 35,318,912 (GRCm39)	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411 (GRCm38)	T1274I	probably benign	Het
Tpi1	A	T	6: 124,789,441 (GRCm39)	I178N	probably damaging	Het
Trav9d-1	A	T	14: 53,030,153 (GRCm39)	S86C	probably damaging	Het
Treml2	A	G	17: 48,616,155 (GRCm39)	E265G	probably benign	Het
Trpm7	A	T	2: 126,668,685 (GRCm39)	S744T	possibly damaging	Het
Usp33	T	A	3: 152,097,999 (GRCm39)	L909*	probably null	Het
Vcan	A	G	13: 89,869,805 (GRCm39)	I210T	probably damaging	Het
Vcan	A	T	13: 89,879,576 (GRCm39)		probably null	Het
Vsig10l	A	T	7: 43,113,099 (GRCm39)	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,286,976 (GRCm39)	T498S	probably benign	Het
Zfp366	T	A	13: 99,366,076 (GRCm39)	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,729,840 (GRCm39)	D624E	probably damaging	Het
Zfp827	A	T	8: 79,916,721 (GRCm39)	D432V		Het
Zic1	T	C	9: 91,247,028 (GRCm39)	T15A	probably damaging	Het
Zswim8	T	C	14: 20,770,036 (GRCm39)	C1368R	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
R6775:Ppip5k2	UTSW	1	97,647,585 (GRCm39)	missense	possibly damaging	0.49
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'- GCTGCCTTGCAATATCCAGG -3'
(R):5'- TTGCCAGGGAGACAAGGTG -3'

Sequencing Primer
(F):5'- TATCCAGGACTTCCTATGCAAG -3'
(R):5'- CGCAAAGTTGAATTAAATGAAGAAAC -3'

Posted On

2019-06-26