Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Inpp4b'

478193

Institutional Source

Beutler Lab

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 #

LCD18 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

82069185-82854543 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 82419639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169387] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]

AlphaFold

Q6P1Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000169387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172167

Predicted Effect

probably benign
Transcript: ENSMUST00000213285

Predicted Effect

probably benign
Transcript: ENSMUST00000215332

Predicted Effect

probably benign
Transcript: ENSMUST00000217122

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dennd1b	G	A	1: 139,042,502 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Ofcc1	G	A	13: 40,246,443 (GRCm39)		probably benign	Het
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CACTGTGCCAAGAATGATACAG -3'
(R):5'- CAGTAAAACCAGTCCTCGGTCC -3'

Sequencing Primer
(F):5'- ACAGGGTTTCTATGCAACGACTG -3'
(R):5'- GTCCTCGGTCCAAAATGTTCATGTAG -3'

Posted On

2017-05-26