Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Inpp5e'

540409

Institutional Source

Beutler Lab

Gene Symbol

Inpp5e

Ensembl Gene

ENSMUSG00000026925

Gene Name

inositol polyphosphate-5-phosphatase E

Synonyms

1200002L24Rik, 72kDa

MMRRC Submission

045053-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6939 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

26286261-26299215 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 26297774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000114090

SMART Domains

Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925

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

Predicted Effect

probably null
Transcript: ENSMUST00000145701

SMART Domains

Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925

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: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Acsm3	T	C	7: 119,377,678 (GRCm39)	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Fkrp	C	T	7: 16,545,751 (GRCm39)	R37Q	probably benign	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gjd3	A	C	11: 102,691,733 (GRCm39)	M90R	probably damaging	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Iqcb1	A	G	16: 36,660,274 (GRCm39)	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Tsg101	T	C	7: 46,556,847 (GRCm39)	T61A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	probably 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
R7003:Inpp5e	UTSW	2	26,287,877 (GRCm39)	missense	probably benign	0.01
R7164:Inpp5e	UTSW	2	26,297,995 (GRCm39)	missense	possibly damaging	0.66
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'- CATTCACATAGCCCCTGGGTAG -3'
(R):5'- CAAACAAGGTTGACCCCGAG -3'

Sequencing Primer
(F):5'- ATAGCCCCTGGGTAGCTAGTTC -3'
(R):5'- AGGTTGACCCCGAGCACAC -3'

Posted On

2018-11-06