Incidental Mutation 'R0083:Inpp4b'
ID 19759
Institutional Source Beutler Lab
Gene Symbol Inpp4b
Ensembl Gene ENSMUSG00000037940
Gene Name inositol polyphosphate-4-phosphatase, type II
Synonyms E130107I17Rik
MMRRC Submission 038370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0083 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 82069185-82854543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82468091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 18 (A18E)
Ref Sequence ENSEMBL: ENSMUSP00000130104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000217122] [ENSMUST00000215332]
AlphaFold Q6P1Y8
Predicted Effect probably benign
Transcript: ENSMUST00000042529
AA Change: A18E

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: A18E

DomainStartEndE-ValueType
C2 40 147 1.72e0 SMART
low complexity region 302 319 N/A INTRINSIC
low complexity region 425 434 N/A INTRINSIC
transmembrane domain 898 920 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109852
AA Change: A18E

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: A18E

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
transmembrane domain 915 937 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169116
AA Change: A18E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: A18E

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169387
AA Change: A18E

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000172031
AA Change: A18E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: A18E

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172167
Predicted Effect probably benign
Transcript: ENSMUST00000213285
AA Change: A18E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000217122
AA Change: A18E

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215332
AA Change: A18E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 83.1%
Validation Efficiency 88% (117/133)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,667,406 (GRCm39) I266F unknown Het
Adam39 T G 8: 41,278,115 (GRCm39) F169V probably damaging Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Ankrd26 G T 6: 118,500,215 (GRCm39) H1085Q probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Atp6v0d2 G A 4: 19,880,001 (GRCm39) probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C1qtnf3 G A 15: 10,975,718 (GRCm39) V175I possibly damaging Het
Cacna1c A G 6: 118,602,484 (GRCm39) M1293T probably damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Cntn4 A G 6: 106,502,330 (GRCm39) I362M possibly damaging Het
Col22a1 A T 15: 71,762,346 (GRCm39) D104E possibly damaging Het
Col4a4 T C 1: 82,484,832 (GRCm39) probably null Het
Cul7 C A 17: 46,966,482 (GRCm39) R304S probably benign Het
Elfn2 A T 15: 78,557,614 (GRCm39) L311Q probably damaging Het
Esrrb T C 12: 86,561,226 (GRCm39) L320P probably damaging Het
Fads2b A T 2: 85,324,476 (GRCm39) F283L possibly damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Fkbp4 G A 6: 128,409,370 (GRCm39) probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Greb1 T C 12: 16,746,452 (GRCm39) M1273V probably benign Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Ints13 A G 6: 146,452,162 (GRCm39) Y686H probably benign Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Krt81 A G 15: 101,361,346 (GRCm39) I78T probably damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mctp2 G T 7: 71,878,264 (GRCm39) F271L possibly damaging Het
Mrto4 C T 4: 139,075,279 (GRCm39) V175I possibly damaging Het
Myh14 A G 7: 44,283,943 (GRCm39) V654A probably damaging Het
Neu2 A G 1: 87,524,984 (GRCm39) Y323C probably damaging Het
Nt5dc1 A C 10: 34,279,760 (GRCm39) M94R probably damaging Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Obscn T C 11: 58,913,200 (GRCm39) D6939G probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pias4 A G 10: 81,000,000 (GRCm39) S18P probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plk5 G A 10: 80,192,496 (GRCm39) G34S possibly damaging Het
Ptprj A T 2: 90,300,121 (GRCm39) probably null Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Sap130 C A 18: 31,799,382 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,694 (GRCm39) P902S probably damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc15a2 T C 16: 36,602,645 (GRCm39) Y72C probably damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Sppl2c G A 11: 104,077,358 (GRCm39) V53I probably benign Het
Sstr1 T A 12: 58,260,528 (GRCm39) C384S possibly damaging Het
Sulf1 A G 1: 12,887,641 (GRCm39) M272V probably damaging Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,550 (GRCm39) probably benign Het
Topaz1 A T 9: 122,604,674 (GRCm39) I1093L probably benign Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Vmn2r26 A T 6: 124,030,940 (GRCm39) probably null Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp939 A T 7: 39,123,534 (GRCm39) noncoding transcript Het
Other mutations in Inpp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Inpp4b APN 8 82,583,379 (GRCm39) missense probably damaging 1.00
IGL01481:Inpp4b APN 8 82,724,009 (GRCm39) missense probably damaging 1.00
IGL01509:Inpp4b APN 8 82,617,332 (GRCm39) splice site probably benign
IGL01515:Inpp4b APN 8 82,679,340 (GRCm39) missense possibly damaging 0.68
IGL01607:Inpp4b APN 8 82,737,292 (GRCm39) missense probably benign 0.03
IGL01643:Inpp4b APN 8 82,798,400 (GRCm39) missense probably damaging 0.97
IGL01736:Inpp4b APN 8 82,723,968 (GRCm39) missense probably benign 0.00
IGL02154:Inpp4b APN 8 82,696,130 (GRCm39) splice site probably benign
IGL02327:Inpp4b APN 8 82,768,591 (GRCm39) missense probably benign 0.01
IGL02413:Inpp4b APN 8 82,759,800 (GRCm39) missense probably benign
IGL02652:Inpp4b APN 8 82,497,429 (GRCm39) splice site probably benign
IGL02678:Inpp4b APN 8 82,583,373 (GRCm39) missense probably damaging 1.00
IGL03146:Inpp4b APN 8 82,470,410 (GRCm39) missense possibly damaging 0.61
LCD18:Inpp4b UTSW 8 82,419,639 (GRCm39) intron probably benign
PIT4280001:Inpp4b UTSW 8 82,761,046 (GRCm39) missense probably benign 0.00
PIT4480001:Inpp4b UTSW 8 82,772,896 (GRCm39) missense probably damaging 1.00
PIT4504001:Inpp4b UTSW 8 82,768,564 (GRCm39) missense probably damaging 1.00
R0212:Inpp4b UTSW 8 82,497,546 (GRCm39) missense probably benign 0.00
R0285:Inpp4b UTSW 8 82,761,145 (GRCm39) splice site probably benign
R0363:Inpp4b UTSW 8 82,610,886 (GRCm39) splice site probably benign
R0364:Inpp4b UTSW 8 82,723,943 (GRCm39) missense probably benign 0.09
R0471:Inpp4b UTSW 8 82,768,528 (GRCm39) missense possibly damaging 0.94
R0550:Inpp4b UTSW 8 82,723,966 (GRCm39) missense probably benign 0.00
R0562:Inpp4b UTSW 8 82,494,780 (GRCm39) missense possibly damaging 0.88
R0661:Inpp4b UTSW 8 82,468,091 (GRCm39) missense possibly damaging 0.77
R0693:Inpp4b UTSW 8 82,723,943 (GRCm39) missense probably benign 0.09
R1081:Inpp4b UTSW 8 82,795,653 (GRCm39) missense probably damaging 0.97
R1251:Inpp4b UTSW 8 82,617,382 (GRCm39) missense probably benign 0.01
R1374:Inpp4b UTSW 8 82,470,445 (GRCm39) critical splice donor site probably null
R1445:Inpp4b UTSW 8 82,679,463 (GRCm39) splice site probably null
R1465:Inpp4b UTSW 8 82,494,786 (GRCm39) missense probably damaging 1.00
R1465:Inpp4b UTSW 8 82,494,786 (GRCm39) missense probably damaging 1.00
R1647:Inpp4b UTSW 8 82,583,403 (GRCm39) splice site probably benign
R1754:Inpp4b UTSW 8 82,497,440 (GRCm39) missense probably damaging 1.00
R1759:Inpp4b UTSW 8 82,494,732 (GRCm39) missense probably benign 0.06
R2085:Inpp4b UTSW 8 82,678,903 (GRCm39) missense probably damaging 1.00
R2156:Inpp4b UTSW 8 82,775,118 (GRCm39) missense probably damaging 1.00
R2160:Inpp4b UTSW 8 82,848,004 (GRCm39) nonsense probably null
R2175:Inpp4b UTSW 8 82,583,328 (GRCm39) missense probably damaging 1.00
R2191:Inpp4b UTSW 8 82,723,931 (GRCm39) missense probably damaging 1.00
R2401:Inpp4b UTSW 8 82,723,968 (GRCm39) missense probably benign 0.00
R2475:Inpp4b UTSW 8 82,768,607 (GRCm39) missense probably benign 0.09
R2512:Inpp4b UTSW 8 82,737,179 (GRCm39) missense probably damaging 1.00
R2919:Inpp4b UTSW 8 82,711,958 (GRCm39) missense possibly damaging 0.93
R3021:Inpp4b UTSW 8 82,629,467 (GRCm39) missense possibly damaging 0.47
R3423:Inpp4b UTSW 8 82,678,890 (GRCm39) missense possibly damaging 0.63
R3777:Inpp4b UTSW 8 82,768,621 (GRCm39) missense possibly damaging 0.89
R3778:Inpp4b UTSW 8 82,768,621 (GRCm39) missense possibly damaging 0.89
R3794:Inpp4b UTSW 8 82,759,845 (GRCm39) missense probably damaging 1.00
R3795:Inpp4b UTSW 8 82,759,845 (GRCm39) missense probably damaging 1.00
R4590:Inpp4b UTSW 8 82,468,040 (GRCm39) start codon destroyed probably null 1.00
R4602:Inpp4b UTSW 8 82,696,164 (GRCm39) missense probably damaging 0.99
R4691:Inpp4b UTSW 8 82,849,282 (GRCm39) missense probably damaging 1.00
R4924:Inpp4b UTSW 8 82,849,253 (GRCm39) missense probably damaging 1.00
R4992:Inpp4b UTSW 8 82,759,837 (GRCm39) missense probably damaging 1.00
R5219:Inpp4b UTSW 8 82,610,785 (GRCm39) missense probably benign 0.01
R5228:Inpp4b UTSW 8 82,494,744 (GRCm39) missense probably damaging 0.99
R5557:Inpp4b UTSW 8 82,678,888 (GRCm39) missense probably damaging 0.99
R5627:Inpp4b UTSW 8 82,470,445 (GRCm39) critical splice donor site probably benign
R5691:Inpp4b UTSW 8 82,617,323 (GRCm39) intron probably benign
R6186:Inpp4b UTSW 8 82,772,863 (GRCm39) missense probably damaging 0.99
R6213:Inpp4b UTSW 8 82,724,019 (GRCm39) missense probably damaging 1.00
R6232:Inpp4b UTSW 8 82,678,813 (GRCm39) missense probably damaging 1.00
R6283:Inpp4b UTSW 8 82,497,462 (GRCm39) missense probably damaging 1.00
R6302:Inpp4b UTSW 8 82,494,806 (GRCm39) missense probably benign 0.00
R6309:Inpp4b UTSW 8 82,768,546 (GRCm39) missense probably damaging 1.00
R6360:Inpp4b UTSW 8 82,629,481 (GRCm39) missense probably benign 0.20
R6477:Inpp4b UTSW 8 82,571,343 (GRCm39) splice site probably null
R6773:Inpp4b UTSW 8 82,583,249 (GRCm39) intron probably benign
R6968:Inpp4b UTSW 8 82,571,086 (GRCm39) missense probably benign 0.18
R7147:Inpp4b UTSW 8 82,629,400 (GRCm39) missense probably damaging 1.00
R7318:Inpp4b UTSW 8 82,798,374 (GRCm39) missense probably damaging 1.00
R7409:Inpp4b UTSW 8 82,679,314 (GRCm39) splice site probably null
R7455:Inpp4b UTSW 8 82,798,332 (GRCm39) missense probably damaging 0.99
R7632:Inpp4b UTSW 8 82,772,968 (GRCm39) missense probably damaging 1.00
R7844:Inpp4b UTSW 8 82,467,949 (GRCm39) start gained probably benign
R7958:Inpp4b UTSW 8 82,696,218 (GRCm39) missense probably damaging 1.00
R8440:Inpp4b UTSW 8 82,768,524 (GRCm39) missense probably damaging 1.00
R9160:Inpp4b UTSW 8 82,610,782 (GRCm39) missense possibly damaging 0.55
R9303:Inpp4b UTSW 8 82,759,758 (GRCm39) missense probably damaging 1.00
R9390:Inpp4b UTSW 8 82,497,522 (GRCm39) missense probably damaging 1.00
R9583:Inpp4b UTSW 8 82,497,555 (GRCm39) critical splice donor site probably null
R9705:Inpp4b UTSW 8 82,772,890 (GRCm39) missense probably benign 0.14
R9778:Inpp4b UTSW 8 82,775,160 (GRCm39) missense probably benign
RF003:Inpp4b UTSW 8 82,696,150 (GRCm39) nonsense probably null
Z1088:Inpp4b UTSW 8 82,795,560 (GRCm39) critical splice acceptor site probably null
Z1176:Inpp4b UTSW 8 82,795,630 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- TCTCTGAAAAGAGCACAGCGGAAC -3'
(R):5'- ACCTAGTGGCATTTGGTGGAACCC -3'

Sequencing Primer
(F):5'- AGGAACCCTGTATCTACCTTATAGC -3'
(R):5'- AACCCAGGTTTCTGTGAATGC -3'
Posted On 2013-04-11