Mutagenetix > Incidental Mutation

Incidental Mutation 'R3794:Inpp4b'

272690

Institutional Source

Beutler Lab

Gene Symbol

Inpp4b

Ensembl Gene

ENSMUSG00000037940

Gene Name

inositol polyphosphate-4-phosphatase, type II

Synonyms

E130107I17Rik

MMRRC Submission

040756-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82069185-82854543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82759845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 445 (V445A)

Ref Sequence

ENSEMBL: ENSMUSP00000132156 (fasta)

Gene Model

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

AlphaFold

Q6P1Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042529
AA Change: V613A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: V613A

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

possibly damaging
Transcript: ENSMUST00000109851
AA Change: V498A

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105477
Gene: ENSMUSG00000037940
AA Change: V498A

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: V630A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: V630A

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: V630A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: V630A

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 damaging
Transcript: ENSMUST00000170160
AA Change: V445A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940
AA Change: V445A

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: V630A

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

SMART Domains

Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: V630A

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: ENSMUST00000213285
AA Change: V630A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215332
AA Change: V630A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217122
AA Change: V630A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.4347

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,496,824 (GRCm39)	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,431,486 (GRCm39)	M1L	probably damaging	Het
Ceacam13	A	G	7: 17,747,340 (GRCm39)	*264W	probably null	Het
Dennd5b	A	T	6: 149,002,715 (GRCm39)	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,654,597 (GRCm39)	V706A	probably damaging	Het
Enpp3	T	C	10: 24,707,630 (GRCm39)		probably null	Het
Exoc4	T	G	6: 33,452,932 (GRCm39)	V474G	probably benign	Het
F2rl1	A	G	13: 95,649,719 (GRCm39)	Y388H	unknown	Het
Fasl	T	C	1: 161,609,306 (GRCm39)	R17G	probably benign	Het
Htr1a	G	A	13: 105,580,852 (GRCm39)	V31M	possibly damaging	Het
Itih3	T	C	14: 30,640,351 (GRCm39)	Y319C	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kmt2d	T	C	15: 98,735,240 (GRCm39)		probably benign	Het
Mobp	A	T	9: 119,997,033 (GRCm39)	K55*	probably null	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,765,739 (GRCm39)	I1057V	probably benign	Het
Or10al7	A	G	17: 38,365,786 (GRCm39)	Y224H	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Piezo2	C	T	18: 63,214,864 (GRCm39)	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578 (GRCm39)	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scaf8	A	G	17: 3,240,524 (GRCm39)	E632G	probably damaging	Het
Smurf1	A	G	5: 144,837,985 (GRCm39)		probably null	Het
Tex16	T	G	X: 111,150,375 (GRCm39)	M1R	probably null	Het
Tln1	G	T	4: 43,536,295 (GRCm39)	A1999D	probably damaging	Het
Trgv5	A	T	13: 19,376,694 (GRCm39)	H47L	probably benign	Het
Ttn	C	T	2: 76,772,781 (GRCm39)	V2405I	possibly damaging	Het
Vps13d	G	A	4: 144,812,007 (GRCm39)		probably benign	Het
Xrcc1	A	G	7: 24,269,985 (GRCm39)	T469A	probably benign	Het
Zfp287	G	T	11: 62,605,070 (GRCm39)	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	Het

Other mutations in Inpp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Inpp4b	APN	8	82,583,379 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATATGCCCTGCCACAG -3'
(R):5'- CAGACTCCATCCACTGTTCAAG -3'

Sequencing Primer
(F):5'- TATGCCCTGCCACAGAGGAC -3'
(R):5'- GAAATTGTTCATGATCTAGTCAGCC -3'

Posted On

2015-03-25