Mutagenetix > Incidental Mutation

Incidental Mutation 'R1768:Inpp5b'

194554

Institutional Source

Beutler Lab

Gene Symbol

Inpp5b

Ensembl Gene

ENSMUSG00000028894

Gene Name

inositol polyphosphate-5-phosphatase B

Synonyms

75kDa

MMRRC Submission

039799-MU

Accession Numbers

Essential gene?

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

Stock #

R1768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124635643-124695304 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 124687069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 765 (L765*)

Ref Sequence

ENSEMBL: ENSMUSP00000139221 (fasta)

Gene Model

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

AlphaFold

Q8K337

Predicted Effect

probably null
Transcript: ENSMUST00000094782
AA Change: L765*

SMART Domains

Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894
AA Change: L765*

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: ENSMUST00000135971

Predicted Effect

probably null
Transcript: ENSMUST00000184454
AA Change: L765*

SMART Domains

Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894
AA Change: L765*

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

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

91% (107/117)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,623,470 (GRCm39)	R60P	possibly damaging	Het
Aox1	T	A	1: 58,393,354 (GRCm39)	C1199S	probably benign	Het
Arhgap18	G	A	10: 26,763,857 (GRCm39)	M482I	probably damaging	Het
Arhgap18	G	T	10: 26,763,858 (GRCm39)	A483S	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
BC051019	T	C	7: 109,322,381 (GRCm39)	T38A	probably benign	Het
Bcam	T	C	7: 19,499,543 (GRCm39)	N192S	probably null	Het
Bend5	A	T	4: 111,311,438 (GRCm39)	K351*	probably null	Het
Bicdl2	T	A	17: 23,884,923 (GRCm39)	M208K	probably damaging	Het
Ccp110	A	T	7: 118,325,247 (GRCm39)		probably null	Het
Cdc6	A	T	11: 98,803,043 (GRCm39)	T328S	probably damaging	Het
Cdk5rap2	G	T	4: 70,225,470 (GRCm39)	N558K	probably benign	Het
Cdkn1c	C	T	7: 143,012,858 (GRCm39)	R146K	probably benign	Het
Ceacam18	G	A	7: 43,297,918 (GRCm39)	C371Y	probably benign	Het
Cep95	T	A	11: 106,697,177 (GRCm39)	C233*	probably null	Het
Chrnd	A	G	1: 87,122,650 (GRCm39)	I144V	probably benign	Het
Col6a4	T	A	9: 105,957,299 (GRCm39)	Q175L	probably benign	Het
Cym	A	T	3: 107,120,816 (GRCm39)	V263E	probably damaging	Het
Cyp2a4	G	T	7: 26,012,197 (GRCm39)	V327F	possibly damaging	Het
Dhx29	T	A	13: 113,084,774 (GRCm39)	M664K	probably damaging	Het
Dlec1	T	G	9: 118,975,075 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,792,863 (GRCm39)	Y293H	probably benign	Het
Dnase1l3	T	A	14: 7,974,104 (GRCm38)	N196Y	probably damaging	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Efcab14	A	T	4: 115,610,116 (GRCm39)		probably null	Het
Entpd5	C	T	12: 84,432,985 (GRCm39)	R189H	probably benign	Het
Exoc4	A	T	6: 33,734,985 (GRCm39)	K534M	probably damaging	Het
Extl1	T	A	4: 134,098,449 (GRCm39)	Y194F	probably benign	Het
Eya1	A	G	1: 14,323,299 (GRCm39)	L161S	possibly damaging	Het
Fam163b	T	C	2: 27,002,874 (GRCm39)	E41G	possibly damaging	Het
Fam180a	A	C	6: 35,292,287 (GRCm39)	S40A	probably benign	Het
Fbxl4	T	C	4: 22,385,950 (GRCm39)	S186P	probably benign	Het
Fbxw19	A	T	9: 109,323,840 (GRCm39)	L45*	probably null	Het
Fgf14	G	T	14: 124,913,924 (GRCm39)	T69N	probably benign	Het
Flt1	A	G	5: 147,609,519 (GRCm39)	Y432H	probably damaging	Het
Frmd4b	A	T	6: 97,283,725 (GRCm39)	L374Q	possibly damaging	Het
G6pc2	T	A	2: 69,053,321 (GRCm39)	V125D	probably damaging	Het
Gm10033	T	C	8: 69,826,210 (GRCm39)	I119M	unknown	Het
Gna15	A	T	10: 81,347,954 (GRCm39)	L164Q	probably damaging	Het
Gnaz	C	A	10: 74,827,702 (GRCm39)	D151E	possibly damaging	Het
Has1	T	C	17: 18,070,562 (GRCm39)	T120A	probably benign	Het
Hectd4	T	A	5: 121,496,366 (GRCm39)	D3919E	possibly damaging	Het
Hs3st5	A	G	10: 36,709,165 (GRCm39)	I233M	probably benign	Het
Ilf3	T	C	9: 21,314,438 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,561 (GRCm39)	I1174N	probably damaging	Het
Kash5	T	A	7: 44,838,227 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,877,755 (GRCm39)	L445P	probably damaging	Het
Kctd20	A	T	17: 29,181,824 (GRCm39)	N159Y	probably damaging	Het
Kctd20	A	T	17: 29,185,755 (GRCm39)	D366V	probably damaging	Het
Klk15	T	C	7: 43,587,757 (GRCm39)		probably benign	Het
Lama4	T	G	10: 38,979,497 (GRCm39)	N1658K	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mas1	T	C	17: 13,060,586 (GRCm39)	Y279C	probably damaging	Het
Mast2	G	T	4: 116,164,156 (GRCm39)	D1747E	probably damaging	Het
Mest	G	A	6: 30,745,138 (GRCm39)	M235I	probably benign	Het
Mfsd6	A	G	1: 52,699,964 (GRCm39)		probably null	Het
Mllt10	T	A	2: 18,167,657 (GRCm39)	S449R	probably damaging	Het
Mon2	T	A	10: 122,849,668 (GRCm39)	T1211S	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Myh15	A	T	16: 48,983,498 (GRCm39)	T1538S	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Npy1r	A	G	8: 67,157,177 (GRCm39)	D199G	possibly damaging	Het
Numbl	A	G	7: 26,980,379 (GRCm39)	T454A	probably benign	Het
Nutm2	T	G	13: 50,627,152 (GRCm39)	F436V	probably damaging	Het
Opa1	T	C	16: 29,439,628 (GRCm39)	S773P	probably benign	Het
Or12e1	T	A	2: 87,022,042 (GRCm39)	S4T	probably benign	Het
Or2d3	A	T	7: 106,491,184 (GRCm39)		probably null	Het
Or2d3	G	T	7: 106,491,185 (GRCm39)	L44M	probably damaging	Het
Or2r11	A	G	6: 42,437,611 (GRCm39)	L114S	probably damaging	Het
Or2t48	A	G	11: 58,420,602 (GRCm39)	L70P	probably damaging	Het
Or51b17	A	G	7: 103,542,484 (GRCm39)	S153P	probably benign	Het
Or51m1	C	T	7: 103,578,932 (GRCm39)	R301*	probably null	Het
Or52e7	A	G	7: 104,685,157 (GRCm39)	S251G	probably benign	Het
Or52i2	A	G	7: 102,319,508 (GRCm39)	Y127C	probably damaging	Het
Or8b12c	T	A	9: 37,715,599 (GRCm39)	Y131N	probably damaging	Het
Pde8a	G	C	7: 80,950,471 (GRCm39)		probably null	Het
Pgam1	T	C	19: 41,906,144 (GRCm39)	F232S	probably damaging	Het
Pgk1	T	A	X: 105,243,914 (GRCm39)	V303E	possibly damaging	Het
Pirb	A	T	7: 3,720,189 (GRCm39)	C395S	probably damaging	Het
Plxnc1	C	T	10: 94,680,184 (GRCm39)	V824I	probably benign	Het
Ppp6r1	A	G	7: 4,636,691 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,056,131 (GRCm39)		probably benign	Het
Rars1	T	A	11: 35,700,465 (GRCm39)	T539S	probably damaging	Het
Rbm44	G	T	1: 91,081,679 (GRCm39)		probably null	Het
Samd4b	A	G	7: 28,113,317 (GRCm39)	I216T	probably benign	Het
Serpine2	A	C	1: 79,794,532 (GRCm39)	F134V	probably damaging	Het
Shmt1	A	G	11: 60,683,790 (GRCm39)	Y341H	probably damaging	Het
Slc23a2	C	A	2: 131,917,561 (GRCm39)	V226F	probably benign	Het
Slc23a4	A	G	6: 34,933,896 (GRCm39)	I69T	probably damaging	Het
Slc37a1	C	A	17: 31,552,652 (GRCm39)	T319K	possibly damaging	Het
Slc6a4	A	T	11: 76,904,078 (GRCm39)	T178S	probably damaging	Het
Smarca4	G	A	9: 21,612,479 (GRCm39)	A1588T	possibly damaging	Het
Spag17	A	T	3: 99,934,668 (GRCm39)	Y650F	possibly damaging	Het
Stab2	C	T	10: 86,838,872 (GRCm39)	G65S	probably damaging	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Stip1	C	A	19: 6,999,165 (GRCm39)	C471F	probably damaging	Het
Taf1	T	C	X: 100,584,500 (GRCm39)	S223P	probably benign	Het
Tchh	C	A	3: 93,350,882 (GRCm39)	N107K	possibly damaging	Het
Tenm3	A	C	8: 48,685,139 (GRCm39)	H2432Q	probably damaging	Het
Tmem243	A	G	5: 9,168,548 (GRCm39)	N110S	probably damaging	Het
Toe1	A	T	4: 116,662,076 (GRCm39)	I306F	probably benign	Het
Trank1	G	A	9: 111,221,995 (GRCm39)	V2911M	probably damaging	Het
Trpm4	A	G	7: 44,958,036 (GRCm39)	I811T	probably damaging	Het
Tspear	T	A	10: 77,710,950 (GRCm39)		probably null	Het
Ttc28	A	T	5: 111,425,034 (GRCm39)	I1589F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,686 (GRCm39)		probably benign	Het
U2af2	C	A	7: 5,070,544 (GRCm39)	R78S	probably benign	Het
Wdr17	A	T	8: 55,126,689 (GRCm39)	D388E	possibly damaging	Het
Wdr3	A	T	3: 100,061,186 (GRCm39)	S261T	probably benign	Het
Zfp667	A	G	7: 6,308,066 (GRCm39)	N245D	possibly damaging	Het
Zfp692	A	G	11: 58,201,002 (GRCm39)		probably benign	Het
Zfp729a	T	C	13: 67,767,370 (GRCm39)	H953R	probably benign	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
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
R4868:Inpp5b	UTSW	4	124,645,203 (GRCm39)	missense	probably damaging	0.99
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'- GCTTCTCCAGTGCCAAGCATACAG -3'
(R):5'- ATGAGGTGTGTGAGCCCAAGTTCC -3'

Sequencing Primer
(F):5'- CAAGCATACAGGTCCGTATTG -3'
(R):5'- AAGTTCCCAGTACTCGGTCTG -3'

Posted On

2014-05-23