Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Inpp5b'

231271

Institutional Source

Beutler Lab

Gene Symbol

Inpp5b

Ensembl Gene

ENSMUSG00000028894

Gene Name

inositol polyphosphate-5-phosphatase B

Synonyms

75kDa

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124635643-124695304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124691662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 862 (H862Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030723] [ENSMUST00000094782] [ENSMUST00000106193] [ENSMUST00000138807] [ENSMUST00000175875] [ENSMUST00000184454]

AlphaFold

Q8K337

PDB Structure

A PH domain within OCRL bridges clathrin mediated membrane trafficking to phosphoinositide metabolism [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000030723

SMART Domains

Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890

Domain	Start	End	E-Value	Type
ZnF_C2H2	139	163	1.22e-4	SMART
ZnF_C2H2	169	193	6.42e-4	SMART
ZnF_C2H2	199	223	2.4e-3	SMART
ZnF_C2H2	228	252	2.57e-3	SMART
ZnF_C2H2	258	282	2.57e-3	SMART
ZnF_C2H2	288	312	7.37e-4	SMART
low complexity region	429	456	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	545	558	N/A	INTRINSIC
low complexity region	628	638	N/A	INTRINSIC
low complexity region	656	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094782
AA Change: H862Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894
AA Change: H862Q

Domain	Start	End	E-Value	Type
Pfam:INPP5B_PH	1	150	4.3e-61	PFAM
low complexity region	206	220	N/A	INTRINSIC
IPPc	343	644	6.29e-126	SMART
Blast:RhoGAP	706	732	1e-7	BLAST
Blast:RhoGAP	755	809	2e-24	BLAST
RhoGAP	827	993	6.77e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106193

SMART Domains

Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890

Domain	Start	End	E-Value	Type
ZnF_C2H2	139	163	1.22e-4	SMART
ZnF_C2H2	169	193	6.42e-4	SMART
ZnF_C2H2	199	223	2.4e-3	SMART
ZnF_C2H2	228	252	2.57e-3	SMART
ZnF_C2H2	258	282	2.57e-3	SMART
ZnF_C2H2	288	312	7.37e-4	SMART
low complexity region	429	456	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	545	558	N/A	INTRINSIC
low complexity region	628	638	N/A	INTRINSIC
low complexity region	656	669	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135971

Predicted Effect

probably benign
Transcript: ENSMUST00000138807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147452

Predicted Effect

probably benign
Transcript: ENSMUST00000175875

Predicted Effect

probably benign
Transcript: ENSMUST00000184454

SMART Domains

Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894

Domain	Start	End	E-Value	Type
PDB:2KIG\|A	1	156	1e-105	PDB
low complexity region	206	220	N/A	INTRINSIC
IPPc	343	644	6.29e-126	SMART
PDB:3QBT\|H	645	782	6e-49	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the inositol polyphosphate-5-phosphatase (INPP5) family. This protein hydrolyzes the 5' phosphate from phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol-1,4,5-trisphosphate, which results in changes to multiple signaling pathways. This protein may be involved in protein trafficking and secretion. Homozygous knockout mice exhibit impaired spermatogenesis and male sterility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null male mice are infertile with a disruption in spermatogenesis and a defect in adherens junctions processing. [provided by MGI curators]

Allele List at MGI

All alleles(24) : Targeted(6) Gene trapped(18)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	probably damaging	Het

Other mutations in Inpp5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Inpp5b	APN	4	124,678,168 (GRCm39)	missense	possibly damaging	0.94
IGL00696:Inpp5b	APN	4	124,636,328 (GRCm39)	start codon destroyed	probably null	1.00
IGL00969:Inpp5b	APN	4	124,677,787 (GRCm39)	missense	probably damaging	1.00
IGL01401:Inpp5b	APN	4	124,639,880 (GRCm39)	missense	probably damaging	0.97
IGL01481:Inpp5b	APN	4	124,694,492 (GRCm39)	splice site	probably null
IGL01517:Inpp5b	APN	4	124,676,229 (GRCm39)	missense	probably benign	0.00
IGL03085:Inpp5b	APN	4	124,686,115 (GRCm39)	missense	probably benign	0.01
IGL03178:Inpp5b	APN	4	124,679,047 (GRCm39)	missense	probably benign	0.02
reduced	UTSW	4	124,686,045 (GRCm39)	missense	probably damaging	1.00
P0042:Inpp5b	UTSW	4	124,691,703 (GRCm39)	critical splice donor site	probably null
R0504:Inpp5b	UTSW	4	124,676,201 (GRCm39)	nonsense	probably null
R0531:Inpp5b	UTSW	4	124,689,249 (GRCm39)	missense	probably damaging	0.99
R1396:Inpp5b	UTSW	4	124,682,873 (GRCm39)	missense	probably damaging	1.00
R1626:Inpp5b	UTSW	4	124,677,696 (GRCm39)	missense	probably damaging	1.00
R1768:Inpp5b	UTSW	4	124,687,069 (GRCm39)	nonsense	probably null
R2037:Inpp5b	UTSW	4	124,692,092 (GRCm39)	missense	probably damaging	0.98
R2132:Inpp5b	UTSW	4	124,678,961 (GRCm39)	splice site	probably benign
R2190:Inpp5b	UTSW	4	124,678,988 (GRCm39)	missense	probably damaging	1.00
R3237:Inpp5b	UTSW	4	124,674,279 (GRCm39)	missense	probably benign	0.04
R3800:Inpp5b	UTSW	4	124,679,138 (GRCm39)	missense	probably damaging	1.00
R4735:Inpp5b	UTSW	4	124,677,760 (GRCm39)	missense	probably damaging	0.99
R4827:Inpp5b	UTSW	4	124,637,643 (GRCm39)	intron	probably benign
R4865:Inpp5b	UTSW	4	124,645,288 (GRCm39)	missense	probably benign
R4868:Inpp5b	UTSW	4	124,645,203 (GRCm39)	missense	probably damaging	0.99
R4913:Inpp5b	UTSW	4	124,674,214 (GRCm39)	missense	probably benign	0.09
R5055:Inpp5b	UTSW	4	124,636,824 (GRCm39)	critical splice donor site	probably null
R5068:Inpp5b	UTSW	4	124,636,442 (GRCm39)	splice site	probably null
R5208:Inpp5b	UTSW	4	124,645,110 (GRCm39)	missense	possibly damaging	0.62
R5642:Inpp5b	UTSW	4	124,676,229 (GRCm39)	missense	probably benign	0.00
R5875:Inpp5b	UTSW	4	124,674,199 (GRCm39)	missense	possibly damaging	0.66
R6015:Inpp5b	UTSW	4	124,692,143 (GRCm39)	missense	possibly damaging	0.94
R6288:Inpp5b	UTSW	4	124,679,020 (GRCm39)	missense	probably benign	0.00
R6450:Inpp5b	UTSW	4	124,686,045 (GRCm39)	missense	probably damaging	1.00
R7138:Inpp5b	UTSW	4	124,679,065 (GRCm39)	missense	probably damaging	1.00
R7235:Inpp5b	UTSW	4	124,645,185 (GRCm39)	missense	probably benign	0.04
R7382:Inpp5b	UTSW	4	124,645,370 (GRCm39)	missense	probably benign	0.00
R7659:Inpp5b	UTSW	4	124,689,219 (GRCm39)	missense	probably damaging	1.00
R7806:Inpp5b	UTSW	4	124,678,881 (GRCm39)	splice site	probably null
R8348:Inpp5b	UTSW	4	124,678,967 (GRCm39)	missense	probably damaging	1.00
R8509:Inpp5b	UTSW	4	124,637,698 (GRCm39)	critical splice donor site	probably null
R9430:Inpp5b	UTSW	4	124,636,340 (GRCm39)	missense	possibly damaging	0.84
R9794:Inpp5b	UTSW	4	124,687,174 (GRCm39)	missense	probably damaging	0.98
Z1176:Inpp5b	UTSW	4	124,691,633 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGGAATGATTCAGAAGTCCC -3'
(R):5'- TGCCGTTTGTCAAGTGACCC -3'

Sequencing Primer
(F):5'- TGGAATGATTCAGAAGTCCCACTAC -3'
(R):5'- ACAGATGGAATGTCTTCTCTGGACAG -3'

Posted On

2014-09-18