Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Inpp5e'

211199

Institutional Source

Beutler Lab

Gene Symbol

Inpp5e

Ensembl Gene

ENSMUSG00000026925

Gene Name

inositol polyphosphate-5-phosphatase E

Synonyms

1200002L24Rik, 72kDa

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26286261-26299215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26298169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 144 (I144K)

Ref Sequence

ENSEMBL: ENSMUSP00000119485 (fasta)

Gene Model

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

AlphaFold

Q9JII1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028291

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: I144K

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: I144K

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: I144K

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: I144K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154486

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,025,396 (GRCm39)	C961F	probably damaging	Het
Abca16	A	C	7: 120,032,608 (GRCm39)	D209A	probably damaging	Het
Adamts14	T	C	10: 61,036,151 (GRCm39)	I1047V	probably benign	Het
Ak1	A	G	2: 32,520,282 (GRCm39)	K27E	probably damaging	Het
Akap9	T	A	5: 4,011,809 (GRCm39)	D837E	probably benign	Het
Arfgef3	T	C	10: 18,473,104 (GRCm39)	Y1653C	probably damaging	Het
Atad2	T	G	15: 57,970,264 (GRCm39)	I446L	probably benign	Het
Atp8b3	T	G	10: 80,365,912 (GRCm39)	T313P	possibly damaging	Het
Btg4	T	C	9: 51,028,489 (GRCm39)	L72S	probably damaging	Het
Canx	A	G	11: 50,195,186 (GRCm39)	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663 (GRCm39)	E250K	probably benign	Het
Chchd10	T	A	10: 75,772,166 (GRCm39)	S46T	probably benign	Het
Col12a1	G	T	9: 79,585,563 (GRCm39)	Y1271*	probably null	Het
Col3a1	G	A	1: 45,381,395 (GRCm39)		probably null	Het
Ctc1	A	T	11: 68,922,390 (GRCm39)	T872S	probably benign	Het
Cx3cl1	T	C	8: 95,507,048 (GRCm39)	F351S	probably damaging	Het
Cyb5r4	T	A	9: 86,937,867 (GRCm39)	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,105,656 (GRCm39)	T285A	probably benign	Het
Dip2a	G	A	10: 76,153,925 (GRCm39)	T135M	probably damaging	Het
Eif1ad18	T	G	12: 88,050,810 (GRCm39)	I115S	probably damaging	Het
Fgf10	A	G	13: 118,925,695 (GRCm39)	E158G	probably damaging	Het
Ftcd	G	T	10: 76,417,403 (GRCm39)	A281S	probably benign	Het
Gpat4	A	T	8: 23,669,486 (GRCm39)	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,376,673 (GRCm39)	L541P	probably damaging	Het
Grk5	T	C	19: 61,071,663 (GRCm39)	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,153,627 (GRCm39)		probably null	Het
Hsd17b13	T	A	5: 104,116,633 (GRCm39)	N127I	probably damaging	Het
Hspa4	T	G	11: 53,174,983 (GRCm39)	D158A	probably benign	Het
Ice2	G	A	9: 69,322,857 (GRCm39)	A451T	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc49	T	C	9: 60,495,060 (GRCm39)	I652V	possibly damaging	Het
Man1a	A	T	10: 53,795,268 (GRCm39)	W571R	probably damaging	Het
Mecom	A	G	3: 30,047,807 (GRCm39)	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,691,224 (GRCm39)	I162T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,716 (GRCm39)	W265R	probably damaging	Het
Mup21	C	T	4: 62,067,663 (GRCm39)	V79I	probably benign	Het
Myh11	G	A	16: 14,086,967 (GRCm39)		probably benign	Het
Myom3	T	A	4: 135,506,711 (GRCm39)	F495I	probably benign	Het
Ncoa7	A	T	10: 30,574,122 (GRCm39)		probably benign	Het
Nisch	T	C	14: 30,895,594 (GRCm39)	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,766,435 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,775 (GRCm39)	I215F	possibly damaging	Het
Or4k1	A	G	14: 50,377,629 (GRCm39)	S156P	probably damaging	Het
Pdcl	A	C	2: 37,245,708 (GRCm39)	H98Q	probably damaging	Het
Pink1	A	G	4: 138,043,013 (GRCm39)	V427A	probably damaging	Het
Plce1	T	C	19: 38,769,067 (GRCm39)	S2242P	probably damaging	Het
Plrg1	C	A	3: 82,976,375 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,702,803 (GRCm39)	F586S	possibly damaging	Het
Pnpla7	G	A	2: 24,930,985 (GRCm39)	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,001,631 (GRCm39)	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,521,971 (GRCm39)		probably benign	Het
Pros1	A	T	16: 62,723,881 (GRCm39)	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,395,841 (GRCm39)	S839P	probably benign	Het
Ptpre	T	C	7: 135,280,046 (GRCm39)	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,645,259 (GRCm39)	A142T	probably damaging	Het
Safb2	T	C	17: 56,883,909 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,801 (GRCm39)	E384G	probably benign	Het
Sec23ip	A	G	7: 128,354,575 (GRCm39)	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,793,637 (GRCm39)	T42M	probably damaging	Het
Slc6a4	A	T	11: 76,905,990 (GRCm39)	T264S	probably benign	Het
Srgap3	A	G	6: 112,752,527 (GRCm39)	M319T	probably damaging	Het
Strn4	T	A	7: 16,572,207 (GRCm39)	I640N	probably damaging	Het
Tacc2	A	G	7: 130,225,475 (GRCm39)	D739G	probably benign	Het
Tigd4	T	A	3: 84,501,242 (GRCm39)	L53*	probably null	Het
Tlr6	T	A	5: 65,112,763 (GRCm39)	D48V	probably damaging	Het
Tmem125	T	C	4: 118,399,101 (GRCm39)	D110G	probably damaging	Het
Tmem198	A	G	1: 75,461,567 (GRCm39)	D341G	probably damaging	Het
Tnfaip3	A	G	10: 18,880,682 (GRCm39)	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,410,486 (GRCm39)	I2378N	possibly damaging	Het
Usp47	A	G	7: 111,654,127 (GRCm39)	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,506,900 (GRCm39)	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,595,505 (GRCm39)	V393D	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
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
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'- AACCTTGTTTGCTGTTCTCAGG -3'
(R):5'- AGACCCAAGTTGGAGCGAAC -3'

Sequencing Primer
(F):5'- AGGCTATGCTGAGGTCCATAGC -3'
(R):5'- AAGTTGGAGCGAACCCTGTC -3'

Posted On

2014-06-30