Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Inpp5b'

376306

Institutional Source

Beutler Lab

Gene Symbol

Inpp5b

Ensembl Gene

ENSMUSG00000028894

Gene Name

inositol polyphosphate-5-phosphatase B

Synonyms

75kDa

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124635643-124695304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124645203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 210 (S210P)

Ref Sequence

ENSEMBL: ENSMUSP00000115176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094782] [ENSMUST00000153837] [ENSMUST00000154229] [ENSMUST00000184454]

AlphaFold

Q8K337

Predicted Effect

probably benign
Transcript: ENSMUST00000094782
AA Change: S164P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894
AA Change: S164P

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

noncoding transcript
Transcript: ENSMUST00000131381

Predicted Effect

probably damaging
Transcript: ENSMUST00000153837
AA Change: S164P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894
AA Change: S164P

Domain	Start	End	E-Value	Type
PDB:2KIG\|A	1	156	1e-113	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000154229
AA Change: S210P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894
AA Change: S210P

Domain	Start	End	E-Value	Type
PDB:2KIG\|A	1	202	1e-104	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000184454
AA Change: S164P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894
AA Change: S164P

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

Meta Mutation Damage Score

0.1408

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,155,941 (GRCm39)	M541V	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Dzip1	A	T	14: 119,114,626 (GRCm39)	V843E	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Mbtps1	C	T	8: 120,235,667 (GRCm39)	V1004I	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Sis	T	G	3: 72,850,881 (GRCm39)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,704,668 (GRCm39)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	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
R2119:Inpp5b	UTSW	4	124,691,662 (GRCm39)	missense	probably benign	0.00
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
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'- TTGGGGAGTCTCCACCACATAC -3'
(R):5'- TGCCGACATTTCCCAGTCTG -3'

Sequencing Primer
(F):5'- CAATCTTACAGAAATGCAGCTGG -3'
(R):5'- TCAAGCGCTTCATCCCG -3'

Posted On

2016-03-17