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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139389109-139579652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139574995 bp (GRCm38)

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: 131,361,792	L103F	probably benign	Het
4932438A13Rik	A	G	3: 36,959,335		probably null	Het
5330417H12Rik	A	G	7: 107,624,558	L103P	unknown	Het
Actb	T	C	5: 142,904,695	I151V	probably benign	Het
Adcy6	T	A	15: 98,604,556	H59L	probably benign	Het
Adss	G	C	1: 177,772,202	S272*	probably null	Het
Aga	A	T	8: 53,511,805	M1L	possibly damaging	Het
Anxa5	G	A	3: 36,465,331	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bod1l	A	C	5: 41,832,340	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405		probably null	Het
Ccdc18	T	A	5: 108,149,041		probably null	Het
Cdh20	G	A	1: 104,941,299	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889		probably null	Het
Chd3	T	C	11: 69,355,633	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619	H1558Q	probably benign	Het
Chil1	A	G	1: 134,189,228	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381	V111A	probably damaging	Het
D430042O09Rik	A	T	7: 125,829,801	M558L	probably benign	Het
Ddx39b	G	A	17: 35,252,750	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865	K64N	probably damaging	Het
Fam135a	A	G	1: 24,028,969	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520		probably benign	Het
Fmn2	T	A	1: 174,666,649	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407	M95K	probably benign	Het
Fyb	T	G	15: 6,638,826	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667	N615S	probably benign	Het
Gart	T	C	16: 91,630,652	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244		probably null	Het
Gm47985	A	T	1: 151,182,974	D122V	probably damaging	Het
Gm49333	A	T	16: 20,633,084	D407V	probably damaging	Het
Gm7168	A	G	17: 13,948,652	K94E	probably benign	Het
Gm996	T	A	2: 25,578,959	E313D	possibly damaging	Het
Gnai2	T	C	9: 107,615,735	H323R		Het
Helz2	C	T	2: 181,234,531	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650	V30M	probably damaging	Het
Itga8	T	A	2: 12,230,239	I403F	possibly damaging	Het
Krt33a	C	T	11: 100,011,602	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108		probably benign	Het
Lama1	T	C	17: 67,750,590	L553P		Het
Lcn9	T	A	2: 25,824,914	*179K	probably null	Het
Lrrc2	T	G	9: 110,980,931	M345R	possibly damaging	Het
March11	T	C	15: 26,387,830	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940		probably null	Het
Mtr	C	T	13: 12,227,839	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805	K596R	unknown	Het
Myo15	T	G	11: 60,504,901	F1397C		Het
Ncor2	T	C	5: 125,109,967	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801	A390T	probably damaging	Het
Olfr381	T	G	11: 73,486,168	I219L	probably benign	Het
Olfr519	T	C	7: 108,894,078	T115A	probably benign	Het
Pds5a	T	A	5: 65,619,666	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,337,352		probably null	Het
Plxna1	T	A	6: 89,337,353		probably null	Het
Ppp4r4	G	A	12: 103,605,061		probably null	Het
Pramel6	T	A	2: 87,508,699	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269		probably null	Het
Rtcb	A	T	10: 85,941,968	D447E	probably benign	Het
Rtn1	C	T	12: 72,216,926	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,389,357	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254	I98S	probably null	Het
Spef2	C	T	15: 9,652,945	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328	W82*	probably null	Het
Tmem159	A	T	7: 120,115,479	I64F	possibly damaging	Het
Topors	T	A	4: 40,262,654	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp773	T	C	7: 7,132,908	R230G	probably benign	Het

Other mutations in Inpp5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Inpp5a	APN	7	139516721	missense	probably benign	0.00
IGL01354:Inpp5a	APN	7	139538234	missense	probably damaging	0.99
IGL01734:Inpp5a	APN	7	139454090	missense	possibly damaging	0.92
IGL02536:Inpp5a	APN	7	139567422	missense	probably benign	0.17
IGL03023:Inpp5a	APN	7	139525786	splice site	probably null
IGL03390:Inpp5a	APN	7	139525748	missense	probably benign	0.01
Anza	UTSW	7	139525738	missense	probably damaging	1.00
borrego	UTSW	7	139525670	missense	probably damaging	1.00
Cervicalis	UTSW	7	139481718	missense	probably damaging	1.00
Joshua_tree	UTSW	7	139574982	missense	probably damaging	1.00
PIT4402001:Inpp5a	UTSW	7	139511453	missense	probably benign	0.02
R0724:Inpp5a	UTSW	7	139516663	missense	probably benign	0.08
R0940:Inpp5a	UTSW	7	139525738	missense	probably damaging	1.00
R1258:Inpp5a	UTSW	7	139525744	missense	probably damaging	1.00
R2112:Inpp5a	UTSW	7	139574961	missense	probably damaging	0.99
R2328:Inpp5a	UTSW	7	139478094	nonsense	probably null
R4223:Inpp5a	UTSW	7	139558905	missense	possibly damaging	0.72
R4307:Inpp5a	UTSW	7	139574963	missense	possibly damaging	0.87
R4703:Inpp5a	UTSW	7	139558923	missense	probably damaging	1.00
R4781:Inpp5a	UTSW	7	139478005	missense	probably benign	0.11
R4997:Inpp5a	UTSW	7	139400738	missense	probably benign	0.07
R5762:Inpp5a	UTSW	7	139538181	missense	possibly damaging	0.95
R6014:Inpp5a	UTSW	7	139574982	missense	probably damaging	1.00
R6381:Inpp5a	UTSW	7	139400673	missense	probably benign	0.00
R7255:Inpp5a	UTSW	7	139511448	missense	probably damaging	0.96
R7324:Inpp5a	UTSW	7	139525670	missense	probably damaging	1.00
R7362:Inpp5a	UTSW	7	139578380	missense	probably benign	0.00
R7561:Inpp5a	UTSW	7	139567422	missense	probably damaging	0.99
R8178:Inpp5a	UTSW	7	139538237	missense	probably damaging	1.00
R8253:Inpp5a	UTSW	7	139481640	missense	probably damaging	0.99
R8839:Inpp5a	UTSW	7	139389433	missense	probably benign	0.07
R9242:Inpp5a	UTSW	7	139481718	missense	probably damaging	1.00
R9340:Inpp5a	UTSW	7	139389464	missense	probably benign	0.00
Z1177:Inpp5a	UTSW	7	139525775	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