Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Inpp5b'

591423

Institutional Source

Beutler Lab

Gene Symbol

Inpp5b

Ensembl Gene

ENSMUSG00000028894

Gene Name

inositol polyphosphate-5-phosphatase B

Synonyms

75kDa

MMRRC Submission

045734-MU

Accession Numbers

Essential gene?

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

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124635643-124695304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124689219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 833 (L833P)

Ref Sequence

ENSEMBL: ENSMUSP00000092375 (fasta)

Gene Model

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

AlphaFold

Q8K337

PDB Structure

A PH domain within OCRL bridges clathrin mediated membrane trafficking to phosphoinositide metabolism [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094782
AA Change: L833P

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

SMART Domains

Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894
AA Change: L833P

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

probably benign
Transcript: ENSMUST00000184454

SMART Domains

Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894

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

0.8634

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,048,907 (GRCm39)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,093,806 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or2b4	A	T	17: 38,116,054 (GRCm39)	Q6L	probably benign	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Prmt7	G	T	8: 106,963,918 (GRCm39)	A271S	probably benign	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	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
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
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
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'- GATTGAGCCGTTGTCCTTTC -3'
(R):5'- CATTCAGAAGTCCTTCCCTGGG -3'

Sequencing Primer
(F):5'- GAGCCGTTGTCCTTTCCTGTTC -3'
(R):5'- GGACAGCCGCTTTGCTTC -3'

Posted On

2019-11-12