Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Inpp5a'

597010

Institutional Source

Beutler Lab

Gene Symbol

Inpp5a

Ensembl Gene

ENSMUSG00000025477

Gene Name

inositol polyphosphate-5-phosphatase A

Synonyms

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138969025-139159568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139154911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 343 (R343S)

Ref Sequence

ENSEMBL: ENSMUSP00000026550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026550] [ENSMUST00000097974] [ENSMUST00000097975] [ENSMUST00000106098]

AlphaFold

Q7TNC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026550
AA Change: R343S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: R343S

Domain	Start	End	E-Value	Type
IPPc	8	400	2.48e-165	SMART
low complexity region	415	422	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097974

SMART Domains

Protein: ENSMUSP00000095588
Gene: ENSMUSG00000041309

Domain	Start	End	E-Value	Type
low complexity region	64	85	N/A	INTRINSIC
HOX	148	210	8.32e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097975
AA Change: R351S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: R351S

Domain	Start	End	E-Value	Type
IPPc	25	408	1.84e-150	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106098
AA Change: R343S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: R343S

Domain	Start	End	E-Value	Type
IPPc	8	400	2.48e-165	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,963,521 (GRCm39)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,223,765 (GRCm39)	L103P	unknown	Het
Actb	T	C	5: 142,890,450 (GRCm39)	I151V	probably benign	Het
Adcy6	T	A	15: 98,502,437 (GRCm39)	H59L	probably benign	Het
Adss2	G	C	1: 177,599,768 (GRCm39)	S272*	probably null	Het
Aga	A	T	8: 53,964,840 (GRCm39)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,468,971 (GRCm39)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgap45	A	T	10: 79,852,766 (GRCm39)		probably benign	Het
Atp6v0a2	A	T	5: 124,793,560 (GRCm39)	H639L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,013,484 (GRCm39)		probably null	Het
Bod1l	A	C	5: 41,989,683 (GRCm39)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,627,996 (GRCm39)	D46G	probably damaging	Het
Camk1	T	C	6: 113,317,289 (GRCm39)	E60G	probably damaging	Het
Capza1	A	T	3: 104,732,721 (GRCm39)		probably null	Het
Ccdc18	T	A	5: 108,296,907 (GRCm39)		probably null	Het
Cdh20	G	A	1: 104,869,024 (GRCm39)	A172T	probably damaging	Het
Cdk4	C	T	10: 126,900,298 (GRCm39)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,888 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,246,459 (GRCm39)	M1092V	probably benign	Het
Chd6	A	T	2: 160,808,539 (GRCm39)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,116,966 (GRCm39)	H318R	probably benign	Het
Cps1	A	G	1: 67,178,965 (GRCm39)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 86,914,434 (GRCm39)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,572,546 (GRCm39)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,217,024 (GRCm39)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,451,834 (GRCm39)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,068,050 (GRCm39)	S940P	probably benign	Het
Fam234b	T	A	6: 135,186,349 (GRCm39)	V119E	probably damaging	Het
Fbxo46	G	C	7: 18,870,458 (GRCm39)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,572,505 (GRCm39)		probably benign	Het
Fmn2	T	A	1: 174,494,215 (GRCm39)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm39)	T64K	probably damaging	Het
Fscb	A	T	12: 64,521,181 (GRCm39)	M95K	probably benign	Het
Fyb1	T	G	15: 6,668,307 (GRCm39)	V500G	probably damaging	Het
G2e3	A	G	12: 51,418,450 (GRCm39)	N615S	probably benign	Het
Gart	T	C	16: 91,427,540 (GRCm39)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,313,224 (GRCm39)	D696V	probably benign	Het
Glmn	C	T	5: 107,710,110 (GRCm39)		probably null	Het
Gm47985	A	T	1: 151,058,725 (GRCm39)	D122V	probably damaging	Het
Gm7168	A	G	17: 14,168,914 (GRCm39)	K94E	probably benign	Het
Gnai2	T	C	9: 107,492,934 (GRCm39)	H323R		Het
Helz2	C	T	2: 180,876,324 (GRCm39)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,858,413 (GRCm39)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,928,270 (GRCm39)	V30M	probably damaging	Het
Itga8	T	A	2: 12,235,050 (GRCm39)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,428,973 (GRCm39)	M558L	probably benign	Het
Krt33a	C	T	11: 99,902,428 (GRCm39)	R404H	probably benign	Het
Krt34	T	A	11: 99,929,764 (GRCm39)	E244V	probably damaging	Het
Krt42	T	C	11: 100,157,792 (GRCm39)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,585 (GRCm39)	L553P		Het
Lcn9	T	A	2: 25,714,926 (GRCm39)	*179K	probably null	Het
Ldaf1	A	T	7: 119,714,702 (GRCm39)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,809,999 (GRCm39)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,916 (GRCm39)	V257A	probably damaging	Het
Masp2	T	C	4: 148,690,163 (GRCm39)	I224T	probably benign	Het
Mpz	A	T	1: 170,987,509 (GRCm39)		probably null	Het
Mtr	C	T	13: 12,242,725 (GRCm39)	A442T	probably benign	Het
Muc5b	A	G	7: 141,401,542 (GRCm39)	K596R	unknown	Het
Myo15a	T	G	11: 60,395,727 (GRCm39)	F1397C		Het
Ncor2	T	C	5: 125,187,031 (GRCm39)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,045,800 (GRCm39)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,545,627 (GRCm39)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,493,285 (GRCm39)	T115A	probably benign	Het
Or1e22	T	G	11: 73,376,994 (GRCm39)	I219L	probably benign	Het
Pds5a	T	A	5: 65,777,009 (GRCm39)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,872 (GRCm39)	R966L	possibly damaging	Het
Plk3	T	C	4: 116,988,925 (GRCm39)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,314,334 (GRCm39)		probably null	Het
Plxna1	T	A	6: 89,314,335 (GRCm39)		probably null	Het
Ppp4r4	G	A	12: 103,571,320 (GRCm39)		probably null	Het
Pramel6	T	A	2: 87,339,043 (GRCm39)	V81E	probably damaging	Het
Prdm2	T	C	4: 142,862,459 (GRCm39)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,970,491 (GRCm39)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,239,497 (GRCm39)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,190 (GRCm39)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,655,031 (GRCm39)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,017,741 (GRCm39)	I744V	probably null	Het
Rad54l2	A	G	9: 106,596,233 (GRCm39)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,415 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,777,832 (GRCm39)	D447E	probably benign	Het
Rtn1	C	T	12: 72,263,700 (GRCm39)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,436,140 (GRCm39)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,096,722 (GRCm39)	M1T	probably null	Het
Slc1a4	T	C	11: 20,282,252 (GRCm39)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,031,940 (GRCm39)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,289,426 (GRCm39)	I226V	probably benign	Het
Spata22	T	G	11: 73,227,080 (GRCm39)	I98S	probably null	Het
Spef2	C	T	15: 9,653,031 (GRCm39)	V917M	probably damaging	Het
Sspo	C	A	6: 48,426,399 (GRCm39)	C139*	probably null	Het
Tenm4	A	G	7: 96,543,909 (GRCm39)	D2012G	probably damaging	Het
Tgm5	G	A	2: 120,883,289 (GRCm39)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,006,753 (GRCm39)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm39)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,888,569 (GRCm39)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,985,250 (GRCm39)	D19E	unknown	Het
Usp17lc	A	G	7: 103,067,688 (GRCm39)	T328A	probably damaging	Het
Utrn	A	G	10: 12,490,252 (GRCm39)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,955,549 (GRCm39)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,570,343 (GRCm39)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,870,371 (GRCm39)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,236,720 (GRCm39)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp773	T	C	7: 7,135,907 (GRCm39)	R230G	probably benign	Het

Other mutations in Inpp5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Inpp5a	APN	7	139,096,637 (GRCm39)	missense	probably benign	0.00
IGL01354:Inpp5a	APN	7	139,118,150 (GRCm39)	missense	probably damaging	0.99
IGL01734:Inpp5a	APN	7	139,034,006 (GRCm39)	missense	possibly damaging	0.92
IGL02536:Inpp5a	APN	7	139,147,338 (GRCm39)	missense	probably benign	0.17
IGL03023:Inpp5a	APN	7	139,105,702 (GRCm39)	splice site	probably null
IGL03390:Inpp5a	APN	7	139,105,664 (GRCm39)	missense	probably benign	0.01
Anza	UTSW	7	139,105,654 (GRCm39)	missense	probably damaging	1.00
borrego	UTSW	7	139,105,586 (GRCm39)	missense	probably damaging	1.00
Cervicalis	UTSW	7	139,061,634 (GRCm39)	missense	probably damaging	1.00
Joshua_tree	UTSW	7	139,154,898 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Inpp5a	UTSW	7	139,091,369 (GRCm39)	missense	probably benign	0.02
R0724:Inpp5a	UTSW	7	139,096,579 (GRCm39)	missense	probably benign	0.08
R0940:Inpp5a	UTSW	7	139,105,654 (GRCm39)	missense	probably damaging	1.00
R1258:Inpp5a	UTSW	7	139,105,660 (GRCm39)	missense	probably damaging	1.00
R2112:Inpp5a	UTSW	7	139,154,877 (GRCm39)	missense	probably damaging	0.99
R2328:Inpp5a	UTSW	7	139,058,010 (GRCm39)	nonsense	probably null
R4223:Inpp5a	UTSW	7	139,138,821 (GRCm39)	missense	possibly damaging	0.72
R4307:Inpp5a	UTSW	7	139,154,879 (GRCm39)	missense	possibly damaging	0.87
R4703:Inpp5a	UTSW	7	139,138,839 (GRCm39)	missense	probably damaging	1.00
R4781:Inpp5a	UTSW	7	139,057,921 (GRCm39)	missense	probably benign	0.11
R4997:Inpp5a	UTSW	7	138,980,654 (GRCm39)	missense	probably benign	0.07
R5762:Inpp5a	UTSW	7	139,118,097 (GRCm39)	missense	possibly damaging	0.95
R6014:Inpp5a	UTSW	7	139,154,898 (GRCm39)	missense	probably damaging	1.00
R6381:Inpp5a	UTSW	7	138,980,589 (GRCm39)	missense	probably benign	0.00
R7255:Inpp5a	UTSW	7	139,091,364 (GRCm39)	missense	probably damaging	0.96
R7324:Inpp5a	UTSW	7	139,105,586 (GRCm39)	missense	probably damaging	1.00
R7362:Inpp5a	UTSW	7	139,158,296 (GRCm39)	missense	probably benign	0.00
R7561:Inpp5a	UTSW	7	139,147,338 (GRCm39)	missense	probably damaging	0.99
R8178:Inpp5a	UTSW	7	139,118,153 (GRCm39)	missense	probably damaging	1.00
R8253:Inpp5a	UTSW	7	139,061,556 (GRCm39)	missense	probably damaging	0.99
R8839:Inpp5a	UTSW	7	138,969,349 (GRCm39)	missense	probably benign	0.07
R9242:Inpp5a	UTSW	7	139,061,634 (GRCm39)	missense	probably damaging	1.00
R9340:Inpp5a	UTSW	7	138,969,380 (GRCm39)	missense	probably benign	0.00
Z1177:Inpp5a	UTSW	7	139,105,691 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTAGAAACCTCTCTGTGTGC -3'
(R):5'- GATAGACCTTGCTGTGACCAGG -3'

Sequencing Primer
(F):5'- GTGCACTCTTTCCTGGATAGCAG -3'
(R):5'- CCTGTACCTAAGTGCTAGCTGAGAG -3'

Posted On

2019-11-26