Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00850:Inpp4b'

11464

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

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL00850

Quality Score

Status

Chromosome

Chromosomal Location

82069185-82854543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82583379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 161 (Q161R)

Ref Sequence

ENSEMBL: ENSMUSP00000148972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109851] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000217122] [ENSMUST00000215332] [ENSMUST00000213285]

AlphaFold

Q6P1Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042529
AA Change: Q144R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: Q144R

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 damaging
Transcript: ENSMUST00000109851
AA Change: Q29R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105477
Gene: ENSMUSG00000037940
AA Change: Q29R

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
low complexity region	187	204	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
transmembrane domain	783	805	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109852
AA Change: Q161R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: Q161R

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

probably damaging
Transcript: ENSMUST00000169116
AA Change: Q161R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: Q161R

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 damaging
Transcript: ENSMUST00000172031
AA Change: Q161R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: Q161R

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 damaging
Transcript: ENSMUST00000217122
AA Change: Q161R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215332
AA Change: Q161R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213285
AA Change: Q161R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216387

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand1	C	A	10: 119,047,040 (GRCm39)	V817L	probably benign	Het
Cdc16	T	G	8: 13,817,575 (GRCm39)	Y295*	probably null	Het
Cdk12	T	A	11: 98,113,491 (GRCm39)	N758K	unknown	Het
Cep295	A	G	9: 15,234,148 (GRCm39)	L2216S	probably benign	Het
Chpf2	A	G	5: 24,797,259 (GRCm39)	E735G	probably damaging	Het
Chrdl2	A	G	7: 99,683,848 (GRCm39)	T432A	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,246 (GRCm39)		probably null	Het
D130043K22Rik	T	G	13: 25,051,157 (GRCm39)	D464E	probably damaging	Het
Dst	G	T	1: 34,345,705 (GRCm39)	A7622S	probably damaging	Het
Fdx1	A	T	9: 51,859,949 (GRCm39)	I127N	probably damaging	Het
Fem1a	A	G	17: 56,565,355 (GRCm39)	I483V	possibly damaging	Het
Gcc2	C	A	10: 58,094,070 (GRCm39)	D51E	probably benign	Het
Glrb	A	G	3: 80,769,088 (GRCm39)	S178P	probably damaging	Het
Lrrc45	T	C	11: 120,611,436 (GRCm39)		probably benign	Het
Myh3	T	C	11: 66,981,681 (GRCm39)	Y757H	probably damaging	Het
Myo1h	A	C	5: 114,453,132 (GRCm39)		probably benign	Het
Nudt13	T	A	14: 20,356,418 (GRCm39)	S114R	probably damaging	Het
Omg	T	C	11: 79,393,540 (GRCm39)	N106S	possibly damaging	Het
Pbrm1	T	C	14: 30,809,576 (GRCm39)	V1163A	probably damaging	Het
Pi4k2b	T	A	5: 52,918,292 (GRCm39)	Y350*	probably null	Het
Prr29	C	A	11: 106,266,033 (GRCm39)	T32K	possibly damaging	Het
Psd4	C	T	2: 24,284,298 (GRCm39)	A54V	probably benign	Het
Scd3	A	G	19: 44,224,247 (GRCm39)	H160R	probably damaging	Het
Shroom3	T	C	5: 93,098,924 (GRCm39)	L1387P	probably damaging	Het
Stk35	A	G	2: 129,643,912 (GRCm39)	T299A	probably damaging	Het
Thsd7b	G	A	1: 130,092,814 (GRCm39)	S1238N	probably benign	Het
Utp11	T	C	4: 124,576,250 (GRCm39)	K131R	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zan	T	C	5: 137,462,375 (GRCm39)	T935A	unknown	Het

Other mutations in Inpp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Inpp4b	APN	8	82,724,009 (GRCm39)	missense	probably damaging	1.00
IGL01509:Inpp4b	APN	8	82,617,332 (GRCm39)	splice site	probably benign
IGL01515:Inpp4b	APN	8	82,679,340 (GRCm39)	missense	possibly damaging	0.68
IGL01607:Inpp4b	APN	8	82,737,292 (GRCm39)	missense	probably benign	0.03
IGL01643:Inpp4b	APN	8	82,798,400 (GRCm39)	missense	probably damaging	0.97
IGL01736:Inpp4b	APN	8	82,723,968 (GRCm39)	missense	probably benign	0.00
IGL02154:Inpp4b	APN	8	82,696,130 (GRCm39)	splice site	probably benign
IGL02327:Inpp4b	APN	8	82,768,591 (GRCm39)	missense	probably benign	0.01
IGL02413:Inpp4b	APN	8	82,759,800 (GRCm39)	missense	probably benign
IGL02652:Inpp4b	APN	8	82,497,429 (GRCm39)	splice site	probably benign
IGL02678:Inpp4b	APN	8	82,583,373 (GRCm39)	missense	probably damaging	1.00
IGL03146:Inpp4b	APN	8	82,470,410 (GRCm39)	missense	possibly damaging	0.61
LCD18:Inpp4b	UTSW	8	82,419,639 (GRCm39)	intron	probably benign
PIT4280001:Inpp4b	UTSW	8	82,761,046 (GRCm39)	missense	probably benign	0.00
PIT4480001:Inpp4b	UTSW	8	82,772,896 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Inpp4b	UTSW	8	82,768,564 (GRCm39)	missense	probably damaging	1.00
R0083:Inpp4b	UTSW	8	82,468,091 (GRCm39)	missense	possibly damaging	0.77
R0212:Inpp4b	UTSW	8	82,497,546 (GRCm39)	missense	probably benign	0.00
R0285:Inpp4b	UTSW	8	82,761,145 (GRCm39)	splice site	probably benign
R0363:Inpp4b	UTSW	8	82,610,886 (GRCm39)	splice site	probably benign
R0364:Inpp4b	UTSW	8	82,723,943 (GRCm39)	missense	probably benign	0.09
R0471:Inpp4b	UTSW	8	82,768,528 (GRCm39)	missense	possibly damaging	0.94
R0550:Inpp4b	UTSW	8	82,723,966 (GRCm39)	missense	probably benign	0.00
R0562:Inpp4b	UTSW	8	82,494,780 (GRCm39)	missense	possibly damaging	0.88
R0661:Inpp4b	UTSW	8	82,468,091 (GRCm39)	missense	possibly damaging	0.77
R0693:Inpp4b	UTSW	8	82,723,943 (GRCm39)	missense	probably benign	0.09
R1081:Inpp4b	UTSW	8	82,795,653 (GRCm39)	missense	probably damaging	0.97
R1251:Inpp4b	UTSW	8	82,617,382 (GRCm39)	missense	probably benign	0.01
R1374:Inpp4b	UTSW	8	82,470,445 (GRCm39)	critical splice donor site	probably null
R1445:Inpp4b	UTSW	8	82,679,463 (GRCm39)	splice site	probably null
R1465:Inpp4b	UTSW	8	82,494,786 (GRCm39)	missense	probably damaging	1.00
R1465:Inpp4b	UTSW	8	82,494,786 (GRCm39)	missense	probably damaging	1.00
R1647:Inpp4b	UTSW	8	82,583,403 (GRCm39)	splice site	probably benign
R1754:Inpp4b	UTSW	8	82,497,440 (GRCm39)	missense	probably damaging	1.00
R1759:Inpp4b	UTSW	8	82,494,732 (GRCm39)	missense	probably benign	0.06
R2085:Inpp4b	UTSW	8	82,678,903 (GRCm39)	missense	probably damaging	1.00
R2156:Inpp4b	UTSW	8	82,775,118 (GRCm39)	missense	probably damaging	1.00
R2160:Inpp4b	UTSW	8	82,848,004 (GRCm39)	nonsense	probably null
R2175:Inpp4b	UTSW	8	82,583,328 (GRCm39)	missense	probably damaging	1.00
R2191:Inpp4b	UTSW	8	82,723,931 (GRCm39)	missense	probably damaging	1.00
R2401:Inpp4b	UTSW	8	82,723,968 (GRCm39)	missense	probably benign	0.00
R2475:Inpp4b	UTSW	8	82,768,607 (GRCm39)	missense	probably benign	0.09
R2512:Inpp4b	UTSW	8	82,737,179 (GRCm39)	missense	probably damaging	1.00
R2919:Inpp4b	UTSW	8	82,711,958 (GRCm39)	missense	possibly damaging	0.93
R3021:Inpp4b	UTSW	8	82,629,467 (GRCm39)	missense	possibly damaging	0.47
R3423:Inpp4b	UTSW	8	82,678,890 (GRCm39)	missense	possibly damaging	0.63
R3777:Inpp4b	UTSW	8	82,768,621 (GRCm39)	missense	possibly damaging	0.89
R3778:Inpp4b	UTSW	8	82,768,621 (GRCm39)	missense	possibly damaging	0.89
R3794:Inpp4b	UTSW	8	82,759,845 (GRCm39)	missense	probably damaging	1.00
R3795:Inpp4b	UTSW	8	82,759,845 (GRCm39)	missense	probably damaging	1.00
R4590:Inpp4b	UTSW	8	82,468,040 (GRCm39)	start codon destroyed	probably null	1.00
R4602:Inpp4b	UTSW	8	82,696,164 (GRCm39)	missense	probably damaging	0.99
R4691:Inpp4b	UTSW	8	82,849,282 (GRCm39)	missense	probably damaging	1.00
R4924:Inpp4b	UTSW	8	82,849,253 (GRCm39)	missense	probably damaging	1.00
R4992:Inpp4b	UTSW	8	82,759,837 (GRCm39)	missense	probably damaging	1.00
R5219:Inpp4b	UTSW	8	82,610,785 (GRCm39)	missense	probably benign	0.01
R5228:Inpp4b	UTSW	8	82,494,744 (GRCm39)	missense	probably damaging	0.99
R5557:Inpp4b	UTSW	8	82,678,888 (GRCm39)	missense	probably damaging	0.99
R5627:Inpp4b	UTSW	8	82,470,445 (GRCm39)	critical splice donor site	probably benign
R5691:Inpp4b	UTSW	8	82,617,323 (GRCm39)	intron	probably benign
R6186:Inpp4b	UTSW	8	82,772,863 (GRCm39)	missense	probably damaging	0.99
R6213:Inpp4b	UTSW	8	82,724,019 (GRCm39)	missense	probably damaging	1.00
R6232:Inpp4b	UTSW	8	82,678,813 (GRCm39)	missense	probably damaging	1.00
R6283:Inpp4b	UTSW	8	82,497,462 (GRCm39)	missense	probably damaging	1.00
R6302:Inpp4b	UTSW	8	82,494,806 (GRCm39)	missense	probably benign	0.00
R6309:Inpp4b	UTSW	8	82,768,546 (GRCm39)	missense	probably damaging	1.00
R6360:Inpp4b	UTSW	8	82,629,481 (GRCm39)	missense	probably benign	0.20
R6477:Inpp4b	UTSW	8	82,571,343 (GRCm39)	splice site	probably null
R6773:Inpp4b	UTSW	8	82,583,249 (GRCm39)	intron	probably benign
R6968:Inpp4b	UTSW	8	82,571,086 (GRCm39)	missense	probably benign	0.18
R7147:Inpp4b	UTSW	8	82,629,400 (GRCm39)	missense	probably damaging	1.00
R7318:Inpp4b	UTSW	8	82,798,374 (GRCm39)	missense	probably damaging	1.00
R7409:Inpp4b	UTSW	8	82,679,314 (GRCm39)	splice site	probably null
R7455:Inpp4b	UTSW	8	82,798,332 (GRCm39)	missense	probably damaging	0.99
R7632:Inpp4b	UTSW	8	82,772,968 (GRCm39)	missense	probably damaging	1.00
R7844:Inpp4b	UTSW	8	82,467,949 (GRCm39)	start gained	probably benign
R7958:Inpp4b	UTSW	8	82,696,218 (GRCm39)	missense	probably damaging	1.00
R8440:Inpp4b	UTSW	8	82,768,524 (GRCm39)	missense	probably damaging	1.00
R9160:Inpp4b	UTSW	8	82,610,782 (GRCm39)	missense	possibly damaging	0.55
R9303:Inpp4b	UTSW	8	82,759,758 (GRCm39)	missense	probably damaging	1.00
R9390:Inpp4b	UTSW	8	82,497,522 (GRCm39)	missense	probably damaging	1.00
R9583:Inpp4b	UTSW	8	82,497,555 (GRCm39)	critical splice donor site	probably null
R9705:Inpp4b	UTSW	8	82,772,890 (GRCm39)	missense	probably benign	0.14
R9778:Inpp4b	UTSW	8	82,775,160 (GRCm39)	missense	probably benign
RF003:Inpp4b	UTSW	8	82,696,150 (GRCm39)	nonsense	probably null
Z1088:Inpp4b	UTSW	8	82,795,560 (GRCm39)	critical splice acceptor site	probably null
Z1176:Inpp4b	UTSW	8	82,795,630 (GRCm39)	missense	possibly damaging	0.60

Posted On

2012-12-06