Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02652:Inpp4b'

302218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp4b

Ensembl Gene

ENSMUSG00000037940

Gene Name

inositol polyphosphate-4-phosphatase, type II

Synonyms

E130107I17Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL02652

Quality Score

Status

Chromosome

Chromosomal Location

81342556-82127914 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 81770800 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]

Predicted Effect

probably benign
Transcript: ENSMUST00000042529

SMART Domains

Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	147	1.72e0	SMART
low complexity region	302	319	N/A	INTRINSIC
low complexity region	425	434	N/A	INTRINSIC
transmembrane domain	898	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109852

SMART Domains

Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC
transmembrane domain	915	937	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164870

Predicted Effect

probably benign
Transcript: ENSMUST00000169116

SMART Domains

Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169387

Predicted Effect

probably benign
Transcript: ENSMUST00000170160

SMART Domains

Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
low complexity region	134	151	N/A	INTRINSIC
low complexity region	257	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172031

SMART Domains

Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213285

Predicted Effect

probably benign
Transcript: ENSMUST00000215332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216036

Predicted Effect

probably benign
Transcript: ENSMUST00000217122

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 67,884,800	D139E	probably benign	Het
Asph	C	T	4: 9,529,984	V347I	probably benign	Het
Ccdc138	A	T	10: 58,513,079	D149V	probably benign	Het
Cep192	A	G	18: 67,858,850		probably benign	Het
Cnnm2	G	A	19: 46,763,211	R480Q	probably damaging	Het
Col24a1	C	A	3: 145,492,301	S1321*	probably null	Het
Cops6	T	G	5: 138,161,438		probably null	Het
Crim1	G	A	17: 78,315,677	A435T	probably damaging	Het
Cttn	G	T	7: 144,441,731	Q382K	probably benign	Het
Dhx38	A	G	8: 109,556,129	L635P	probably damaging	Het
Dmtf1	T	A	5: 9,121,853	T458S	probably benign	Het
Dnah5	T	C	15: 28,366,187	F2682S	probably damaging	Het
Dnah6	T	A	6: 73,095,104	Q2413L	probably damaging	Het
Dock10	T	C	1: 80,592,844		probably null	Het
Engase	C	T	11: 118,478,950	P63S	probably damaging	Het
Grik4	A	G	9: 42,675,277	V94A	possibly damaging	Het
Heatr6	T	C	11: 83,769,732	V566A	probably damaging	Het
Hydin	A	C	8: 110,589,522	T4349P	possibly damaging	Het
Mertk	A	G	2: 128,801,270	E863G	probably benign	Het
Muc19	T	A	15: 91,877,815		noncoding transcript	Het
Myo9a	T	A	9: 59,863,928	F928I	probably damaging	Het
Nyap2	T	C	1: 81,241,720	Y486H	probably damaging	Het
Oas1e	T	C	5: 120,795,405	R32G	probably damaging	Het
Olfr113	A	T	17: 37,574,945	Y159*	probably null	Het
Olfr1298	A	G	2: 111,645,494	F168L	probably benign	Het
Osbpl6	G	A	2: 76,593,454	R848Q	probably damaging	Het
Piezo2	G	A	18: 63,024,475	T2388I	probably damaging	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Ptpn12	T	C	5: 21,002,437	K308E	probably benign	Het
Rgsl1	A	G	1: 153,825,490	L441P	probably damaging	Het
Rictor	T	C	15: 6,776,187		probably null	Het
Scn2a	T	A	2: 65,702,038	S665T	possibly damaging	Het
Scn8a	A	G	15: 101,013,476	I926V	probably damaging	Het
Snrpg	T	C	6: 86,376,528	I30T	probably damaging	Het
Spryd3	A	T	15: 102,118,990		probably null	Het
Svil	A	G	18: 5,114,531	D2036G	probably damaging	Het
Synj2	A	T	17: 6,017,593	I551F	probably damaging	Het
Tiam2	A	T	17: 3,439,696		probably benign	Het
Tmem132b	T	C	5: 125,787,575	F915S	probably damaging	Het
Try5	C	A	6: 41,311,408	V204L	probably benign	Het
Vmn2r6	T	C	3: 64,556,328	T362A	probably benign	Het

Other mutations in Inpp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Inpp4b	APN	8	81856750	missense	probably damaging	1.00
IGL01481:Inpp4b	APN	8	81997380	missense	probably damaging	1.00
IGL01509:Inpp4b	APN	8	81890703	splice site	probably benign
IGL01515:Inpp4b	APN	8	81952711	missense	possibly damaging	0.68
IGL01607:Inpp4b	APN	8	82010663	missense	probably benign	0.03
IGL01643:Inpp4b	APN	8	82071771	missense	probably damaging	0.97
IGL01736:Inpp4b	APN	8	81997339	missense	probably benign	0.00
IGL02154:Inpp4b	APN	8	81969501	splice site	probably benign
IGL02327:Inpp4b	APN	8	82041962	missense	probably benign	0.01
IGL02413:Inpp4b	APN	8	82033171	missense	probably benign
IGL02678:Inpp4b	APN	8	81856744	missense	probably damaging	1.00
IGL03146:Inpp4b	APN	8	81743781	missense	possibly damaging	0.61
LCD18:Inpp4b	UTSW	8	81693010	intron	probably benign
PIT4280001:Inpp4b	UTSW	8	82034417	missense	probably benign	0.00
PIT4480001:Inpp4b	UTSW	8	82046267	missense	probably damaging	1.00
PIT4504001:Inpp4b	UTSW	8	82041935	missense	probably damaging	1.00
R0083:Inpp4b	UTSW	8	81741462	missense	possibly damaging	0.77
R0212:Inpp4b	UTSW	8	81770917	missense	probably benign	0.00
R0285:Inpp4b	UTSW	8	82034516	splice site	probably benign
R0363:Inpp4b	UTSW	8	81884257	splice site	probably benign
R0364:Inpp4b	UTSW	8	81997314	missense	probably benign	0.09
R0471:Inpp4b	UTSW	8	82041899	missense	possibly damaging	0.94
R0550:Inpp4b	UTSW	8	81997337	missense	probably benign	0.00
R0562:Inpp4b	UTSW	8	81768151	missense	possibly damaging	0.88
R0661:Inpp4b	UTSW	8	81741462	missense	possibly damaging	0.77
R0693:Inpp4b	UTSW	8	81997314	missense	probably benign	0.09
R1081:Inpp4b	UTSW	8	82069024	missense	probably damaging	0.97
R1251:Inpp4b	UTSW	8	81890753	missense	probably benign	0.01
R1374:Inpp4b	UTSW	8	81743816	critical splice donor site	probably null
R1445:Inpp4b	UTSW	8	81952834	intron	probably null
R1465:Inpp4b	UTSW	8	81768157	missense	probably damaging	1.00
R1465:Inpp4b	UTSW	8	81768157	missense	probably damaging	1.00
R1647:Inpp4b	UTSW	8	81856774	splice site	probably benign
R1754:Inpp4b	UTSW	8	81770811	missense	probably damaging	1.00
R1759:Inpp4b	UTSW	8	81768103	missense	probably benign	0.06
R2085:Inpp4b	UTSW	8	81952274	missense	probably damaging	1.00
R2156:Inpp4b	UTSW	8	82048489	missense	probably damaging	1.00
R2160:Inpp4b	UTSW	8	82121375	nonsense	probably null
R2175:Inpp4b	UTSW	8	81856699	missense	probably damaging	1.00
R2191:Inpp4b	UTSW	8	81997302	missense	probably damaging	1.00
R2401:Inpp4b	UTSW	8	81997339	missense	probably benign	0.00
R2475:Inpp4b	UTSW	8	82041978	missense	probably benign	0.09
R2512:Inpp4b	UTSW	8	82010550	missense	probably damaging	1.00
R2919:Inpp4b	UTSW	8	81985329	missense	possibly damaging	0.93
R3021:Inpp4b	UTSW	8	81902838	missense	possibly damaging	0.47
R3423:Inpp4b	UTSW	8	81952261	missense	possibly damaging	0.63
R3777:Inpp4b	UTSW	8	82041992	missense	possibly damaging	0.89
R3778:Inpp4b	UTSW	8	82041992	missense	possibly damaging	0.89
R3794:Inpp4b	UTSW	8	82033216	missense	probably damaging	1.00
R3795:Inpp4b	UTSW	8	82033216	missense	probably damaging	1.00
R4590:Inpp4b	UTSW	8	81741411	start codon destroyed	probably null	1.00
R4602:Inpp4b	UTSW	8	81969535	missense	probably damaging	0.99
R4691:Inpp4b	UTSW	8	82122653	missense	probably damaging	1.00
R4924:Inpp4b	UTSW	8	82122624	missense	probably damaging	1.00
R4992:Inpp4b	UTSW	8	82033208	missense	probably damaging	1.00
R5219:Inpp4b	UTSW	8	81884156	missense	probably benign	0.01
R5228:Inpp4b	UTSW	8	81768115	missense	probably damaging	0.99
R5557:Inpp4b	UTSW	8	81952259	missense	probably damaging	0.99
R5627:Inpp4b	UTSW	8	81743816	critical splice donor site	probably benign
R5691:Inpp4b	UTSW	8	81890694	intron	probably benign
R6186:Inpp4b	UTSW	8	82046234	missense	probably damaging	0.99
R6213:Inpp4b	UTSW	8	81997390	missense	probably damaging	1.00
R6232:Inpp4b	UTSW	8	81952184	missense	probably damaging	1.00
R6283:Inpp4b	UTSW	8	81770833	missense	probably damaging	1.00
R6302:Inpp4b	UTSW	8	81768177	missense	probably benign	0.00
R6309:Inpp4b	UTSW	8	82041917	missense	probably damaging	1.00
R6360:Inpp4b	UTSW	8	81902852	missense	probably benign	0.20
R6477:Inpp4b	UTSW	8	81844714	unclassified	probably null
R6773:Inpp4b	UTSW	8	81856620	intron	probably benign
R6968:Inpp4b	UTSW	8	81844457	missense	probably benign	0.18
R7147:Inpp4b	UTSW	8	81902771	missense	probably damaging	1.00
R7318:Inpp4b	UTSW	8	82071745	missense	probably damaging	1.00
R7409:Inpp4b	UTSW	8	81952685	splice site	probably null
R7455:Inpp4b	UTSW	8	82071703	missense	probably damaging	0.99
R7632:Inpp4b	UTSW	8	82046339	missense	probably damaging	1.00
R7844:Inpp4b	UTSW	8	81741320	start gained	probably benign
R7927:Inpp4b	UTSW	8	81741320	start gained	probably benign
RF003:Inpp4b	UTSW	8	81969521	nonsense	probably null
Z1088:Inpp4b	UTSW	8	82068931	critical splice acceptor site	probably null
Z1176:Inpp4b	UTSW	8	82069001	missense	possibly damaging	0.60

Posted On

2015-04-16