Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Inpp5e'

557779

Institutional Source

Beutler Lab

Gene Symbol

Inpp5e

Ensembl Gene

ENSMUSG00000026925

Gene Name

inositol polyphosphate-5-phosphatase E

Synonyms

1200002L24Rik, 72kDa

MMRRC Submission

045331-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26286261-26299215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26297995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 202 (D202V)

Ref Sequence

ENSEMBL: ENSMUSP00000119485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091252] [ENSMUST00000114082] [ENSMUST00000114090] [ENSMUST00000145701]

AlphaFold

Q9JII1

Predicted Effect

probably benign
Transcript: ENSMUST00000091252

SMART Domains

Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1463	1565	3.1e-24	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1635	1898	2.3e-39	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114082

SMART Domains

Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1464	1564	2.6e-10	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1636	1887	6.8e-45	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC
low complexity region	2310	2320	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114090
AA Change: D202V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: D202V

Domain	Start	End	E-Value	Type
low complexity region	277	294	N/A	INTRINSIC
IPPc	300	602	1.27e-62	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145701
AA Change: D202V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: D202V

Domain	Start	End	E-Value	Type
low complexity region	277	294	N/A	INTRINSIC
IPPc	300	602	1.27e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156442

SMART Domains

Protein: ENSMUSP00000122255
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
Pfam:Sec16	14	114	7.7e-11	PFAM
low complexity region	150	164	N/A	INTRINSIC
Pfam:Sec16_C	186	438	1.6e-45	PFAM
low complexity region	659	674	N/A	INTRINSIC
low complexity region	715	727	N/A	INTRINSIC
low complexity region	737	747	N/A	INTRINSIC
low complexity region	777	792	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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 an 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. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Ajm1	T	A	2: 25,468,579 (GRCm39)	H444L	possibly damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Espl1	T	C	15: 102,221,638 (GRCm39)	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm39)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or1j21	T	C	2: 36,683,709 (GRCm39)	S154P	probably benign	Het
Or5ae2	A	G	7: 84,506,251 (GRCm39)	I227V	possibly damaging	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly damaging	Het

Other mutations in Inpp5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Inpp5e	APN	2	26,298,533 (GRCm39)	missense	probably benign
IGL00943:Inpp5e	APN	2	26,290,163 (GRCm39)	splice site	probably benign
IGL01518:Inpp5e	APN	2	26,287,946 (GRCm39)	missense	probably damaging	1.00
R0212:Inpp5e	UTSW	2	26,298,352 (GRCm39)	splice site	probably null
R1818:Inpp5e	UTSW	2	26,287,886 (GRCm39)	missense	probably benign	0.00
R1876:Inpp5e	UTSW	2	26,298,169 (GRCm39)	missense	possibly damaging	0.91
R2508:Inpp5e	UTSW	2	26,289,355 (GRCm39)	missense	probably damaging	1.00
R4175:Inpp5e	UTSW	2	26,290,937 (GRCm39)	missense	probably damaging	0.99
R4647:Inpp5e	UTSW	2	26,297,926 (GRCm39)	missense	probably benign	0.01
R4668:Inpp5e	UTSW	2	26,291,006 (GRCm39)	missense	probably damaging	0.97
R4895:Inpp5e	UTSW	2	26,287,924 (GRCm39)	missense	probably damaging	1.00
R4908:Inpp5e	UTSW	2	26,290,918 (GRCm39)	missense	probably damaging	1.00
R5090:Inpp5e	UTSW	2	26,289,383 (GRCm39)	splice site	probably null
R5096:Inpp5e	UTSW	2	26,289,537 (GRCm39)	missense	probably damaging	1.00
R5830:Inpp5e	UTSW	2	26,290,427 (GRCm39)	missense	probably damaging	1.00
R6056:Inpp5e	UTSW	2	26,297,860 (GRCm39)	nonsense	probably null
R6899:Inpp5e	UTSW	2	26,290,060 (GRCm39)	missense	possibly damaging	0.77
R6939:Inpp5e	UTSW	2	26,297,774 (GRCm39)	splice site	probably null
R7003:Inpp5e	UTSW	2	26,287,877 (GRCm39)	missense	probably benign	0.01
R7275:Inpp5e	UTSW	2	26,298,104 (GRCm39)	missense	probably benign	0.00
R7285:Inpp5e	UTSW	2	26,287,870 (GRCm39)	missense	probably benign	0.36
R7468:Inpp5e	UTSW	2	26,298,161 (GRCm39)	missense	probably benign	0.00
R7873:Inpp5e	UTSW	2	26,297,957 (GRCm39)	nonsense	probably null
R8032:Inpp5e	UTSW	2	26,286,865 (GRCm39)	missense
R8146:Inpp5e	UTSW	2	26,289,274 (GRCm39)	missense	probably benign	0.00
R9227:Inpp5e	UTSW	2	26,288,616 (GRCm39)	missense	probably damaging	1.00
R9310:Inpp5e	UTSW	2	26,287,940 (GRCm39)	missense	probably benign
R9706:Inpp5e	UTSW	2	26,292,126 (GRCm39)	missense	probably benign	0.21
RF002:Inpp5e	UTSW	2	26,298,389 (GRCm39)	missense	possibly damaging	0.95
X0061:Inpp5e	UTSW	2	26,292,159 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAAAGATCTGGCTGAGTGAATG -3'
(R):5'- TGCAAGACTCAGTAGCCCAG -3'

Sequencing Primer
(F):5'- CTGAGTGAATGGAGTGATCGTC -3'
(R):5'- TCAGCACATCCTTGCAGG -3'

Posted On

2019-06-26