Incidental Mutation 'R5055:Inpp5b'
ID 390761
Institutional Source Beutler Lab
Gene Symbol Inpp5b
Ensembl Gene ENSMUSG00000028894
Gene Name inositol polyphosphate-5-phosphatase B
Synonyms 75kDa
MMRRC Submission 042645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R5055 (G1)
Quality Score 216
Status Validated
Chromosome 4
Chromosomal Location 124635643-124695304 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 124636824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094782] [ENSMUST00000094782] [ENSMUST00000094782] [ENSMUST00000094782] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000153837] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000154229] [ENSMUST00000184454] [ENSMUST00000184454] [ENSMUST00000184454] [ENSMUST00000184454]
AlphaFold Q8K337
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: 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 noncoding transcript
Transcript: ENSMUST00000102164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131381
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000153837
SMART Domains Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 156 1e-113 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
Predicted Effect probably null
Transcript: ENSMUST00000154229
SMART Domains Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894

DomainStartEndE-ValueType
PDB:2KIG|A 1 202 1e-104 PDB
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 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 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 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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (84/86)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,013,996 (GRCm39) V329I probably damaging Het
Adgrl3 C A 5: 81,794,398 (GRCm39) A541E possibly damaging Het
Agbl1 A T 7: 76,063,325 (GRCm39) I263F probably damaging Het
Ash1l T C 3: 88,930,519 (GRCm39) probably null Het
Bccip A G 7: 133,316,652 (GRCm39) T91A probably benign Het
Bnc1 A T 7: 81,624,163 (GRCm39) F355I probably damaging Het
Bpifa2 A T 2: 153,855,630 (GRCm39) D185V probably damaging Het
Capn8 T A 1: 182,399,526 (GRCm39) V89D probably damaging Het
Cfap46 A T 7: 139,241,106 (GRCm39) M421K probably damaging Het
Chd2 A T 7: 73,130,256 (GRCm39) L800M probably damaging Het
Chd4 A G 6: 125,077,949 (GRCm39) D137G possibly damaging Het
Crtap A G 9: 114,219,208 (GRCm39) Y154H probably benign Het
Ctdp1 T A 18: 80,499,303 (GRCm39) Q213L probably damaging Het
Cts6 T C 13: 61,344,164 (GRCm39) Y296C probably damaging Het
Daxx G T 17: 34,131,134 (GRCm39) V354F probably benign Het
Dnah2 A G 11: 69,411,599 (GRCm39) I341T possibly damaging Het
Epha2 A G 4: 141,036,380 (GRCm39) D272G probably benign Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fbxl7 C A 15: 26,553,022 (GRCm39) G82W probably damaging Het
Fcamr G A 1: 130,739,174 (GRCm39) C158Y probably damaging Het
Fyb1 A C 15: 6,614,630 (GRCm39) probably benign Het
Gars1 G A 6: 55,045,077 (GRCm39) R454H probably damaging Het
Ghsr T C 3: 27,426,421 (GRCm39) V159A probably benign Het
Glp1r A T 17: 31,137,861 (GRCm39) Q97H probably benign Het
Gm27047 T C 6: 130,606,909 (GRCm39) noncoding transcript Het
Igkv3-3 A C 6: 70,664,223 (GRCm39) I22L probably benign Het
Ipo9 C A 1: 135,330,097 (GRCm39) E448* probably null Het
Itgb2l A T 16: 96,229,003 (GRCm39) I400N probably damaging Het
Kat6b T A 14: 21,567,062 (GRCm39) H40Q probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnq2 G T 2: 180,728,554 (GRCm39) probably benign Het
Klf7 T C 1: 64,118,439 (GRCm39) T53A probably benign Het
Kmt2a A G 9: 44,729,649 (GRCm39) probably benign Het
Lrp10 C T 14: 54,705,802 (GRCm39) R331C probably benign Het
Map4k5 A T 12: 69,878,332 (GRCm39) D289E probably benign Het
Mfsd4b2 A T 10: 39,799,773 (GRCm39) M43K possibly damaging Het
Msr1 T G 8: 40,076,997 (GRCm39) R138S possibly damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Myh9 G A 15: 77,648,723 (GRCm39) A1711V probably benign Het
Myo18b A G 5: 113,023,083 (GRCm39) probably benign Het
Nampt A T 12: 32,883,120 (GRCm39) N102Y possibly damaging Het
Nell2 T C 15: 95,371,460 (GRCm39) I92V probably benign Het
Nes A G 3: 87,884,521 (GRCm39) N883D probably benign Het
Neurl3 T A 1: 36,312,463 (GRCm39) probably benign Het
Ocln T A 13: 100,675,930 (GRCm39) T188S probably benign Het
Or2ag20 T A 7: 106,464,937 (GRCm39) M250K probably damaging Het
Or5m10 T C 2: 85,717,585 (GRCm39) F147S probably benign Het
Parp14 T A 16: 35,664,733 (GRCm39) Q1305L probably benign Het
Pde3a C T 6: 141,433,682 (GRCm39) Q855* probably null Het
Pde4b T C 4: 102,052,311 (GRCm39) probably benign Het
Pdk2 T C 11: 94,930,242 (GRCm39) M65V probably benign Het
Phf21a T C 2: 92,182,201 (GRCm39) S377P probably damaging Het
Plcb2 T A 2: 118,548,703 (GRCm39) T408S probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ppp6r2 A G 15: 89,167,152 (GRCm39) D789G probably benign Het
Prdm16 T C 4: 154,419,719 (GRCm39) M897V possibly damaging Het
Prss57 A G 10: 79,620,178 (GRCm39) probably null Het
Psd G T 19: 46,310,907 (GRCm39) L381I probably benign Het
Ptprq A T 10: 107,370,540 (GRCm39) D2050E probably benign Het
Rfc1 G T 5: 65,423,505 (GRCm39) N1034K probably damaging Het
Ryr3 C T 2: 112,661,504 (GRCm39) G1829S probably benign Het
Scaper T C 9: 55,767,003 (GRCm39) probably null Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Slc28a1 A G 7: 80,818,796 (GRCm39) N583S possibly damaging Het
Slc35e3 C T 10: 117,580,884 (GRCm39) G140D probably damaging Het
Slc6a9 G A 4: 117,725,347 (GRCm39) probably null Het
Sptlc1 A G 13: 53,496,218 (GRCm39) S376P probably benign Het
Sspo G A 6: 48,441,729 (GRCm39) C1913Y probably damaging Het
Taar7b A T 10: 23,876,845 (GRCm39) I337F possibly damaging Het
Tdpoz2 T A 3: 93,559,235 (GRCm39) I246F probably damaging Het
Trpa1 C T 1: 14,946,183 (GRCm39) V983M probably damaging Het
Trpm5 A T 7: 142,626,521 (GRCm39) M1112K probably benign Het
Tsbp1 G A 17: 34,667,770 (GRCm39) C154Y possibly damaging Het
Uso1 A T 5: 92,340,594 (GRCm39) K670I probably benign Het
Washc4 A G 10: 83,392,771 (GRCm39) D257G probably damaging Het
Wdr41 T A 13: 95,151,725 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,860 (GRCm39) Q668R possibly 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
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
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'- TCTCGAAGCCATATGGGAAAAG -3'
(R):5'- AAGCTTCCACATCACATCTTGC -3'

Sequencing Primer
(F):5'- CTACCAGGTGCTTTACATAGGTAGC -3'
(R):5'- GCTGATTATTAAAGGCTTAGAACACG -3'
Posted On 2016-06-06