Incidental Mutation 'IGL01481:Inpp5b'
ID 88633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5b
Ensembl Gene ENSMUSG00000028894
Gene Name inositol polyphosphate-5-phosphatase B
Synonyms 75kDa
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL01481
Quality Score
Status
Chromosome 4
Chromosomal Location 124635643-124695304 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 124694492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030723] [ENSMUST00000094782] [ENSMUST00000094782] [ENSMUST00000106193] [ENSMUST00000138807] [ENSMUST00000184454] [ENSMUST00000175875]
AlphaFold Q8K337
Predicted Effect probably null
Transcript: ENSMUST00000030723
SMART Domains Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890

DomainStartEndE-ValueType
ZnF_C2H2 139 163 1.22e-4 SMART
ZnF_C2H2 169 193 6.42e-4 SMART
ZnF_C2H2 199 223 2.4e-3 SMART
ZnF_C2H2 228 252 2.57e-3 SMART
ZnF_C2H2 258 282 2.57e-3 SMART
ZnF_C2H2 288 312 7.37e-4 SMART
low complexity region 429 456 N/A INTRINSIC
low complexity region 500 526 N/A INTRINSIC
low complexity region 545 558 N/A INTRINSIC
low complexity region 628 638 N/A INTRINSIC
low complexity region 656 669 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000094782
SMART Domains Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000094782
SMART Domains Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000106193
SMART Domains Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890

DomainStartEndE-ValueType
ZnF_C2H2 139 163 1.22e-4 SMART
ZnF_C2H2 169 193 6.42e-4 SMART
ZnF_C2H2 199 223 2.4e-3 SMART
ZnF_C2H2 228 252 2.57e-3 SMART
ZnF_C2H2 258 282 2.57e-3 SMART
ZnF_C2H2 288 312 7.37e-4 SMART
low complexity region 429 456 N/A INTRINSIC
low complexity region 500 526 N/A INTRINSIC
low complexity region 545 558 N/A INTRINSIC
low complexity region 628 638 N/A INTRINSIC
low complexity region 656 669 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135971
Predicted Effect probably null
Transcript: ENSMUST00000138807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142446
Predicted Effect probably benign
Transcript: ENSMUST00000184454
SMART Domains Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147452
Predicted Effect probably null
Transcript: ENSMUST00000175875
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Inpp5b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-11-18