Incidental Mutation 'R1465:Inpp4b'
ID 201070
Institutional Source Beutler Lab
Gene Symbol Inpp4b
Ensembl Gene ENSMUSG00000037940
Gene Name inositol polyphosphate-4-phosphatase, type II
Synonyms E130107I17Rik
MMRRC Submission 039519-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R1465 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 82069185-82854543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82494786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 67 (V67E)
Ref Sequence ENSEMBL: ENSMUSP00000150541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000217122] [ENSMUST00000215332]
AlphaFold Q6P1Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000042529
AA Change: V67E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: V67E

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 damaging
Transcript: ENSMUST00000109852
AA Change: V67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: V67E

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 noncoding transcript
Transcript: ENSMUST00000164870
Predicted Effect probably damaging
Transcript: ENSMUST00000169116
AA Change: V67E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: V67E

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 probably benign
Transcript: ENSMUST00000169387
Predicted Effect probably benign
Transcript: ENSMUST00000170160
SMART Domains Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940

DomainStartEndE-ValueType
low complexity region 134 151 N/A INTRINSIC
low complexity region 257 266 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172031
AA Change: V67E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: V67E

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 probably damaging
Transcript: ENSMUST00000213285
AA Change: V67E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217122
AA Change: V67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215332
AA Change: V67E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216036
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.5%
  • 10x: 93.6%
  • 20x: 86.6%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,866 (GRCm39) Y121H probably damaging Het
Abca13 G T 11: 9,349,303 (GRCm39) G3626W probably damaging Het
Acvr1c A G 2: 58,174,973 (GRCm39) Y192H probably damaging Het
Afm A T 5: 90,698,200 (GRCm39) D534V probably damaging Het
Agl T C 3: 116,565,021 (GRCm39) E1076G probably benign Het
Ahcyl T C 16: 45,974,211 (GRCm39) K389E probably benign Het
Angptl3 A T 4: 98,925,757 (GRCm39) H361L probably benign Het
Apob T C 12: 8,061,421 (GRCm39) F3301S possibly damaging Het
Arhgef33 T A 17: 80,674,730 (GRCm39) C376S possibly damaging Het
Ass1 A G 2: 31,410,428 (GRCm39) *413W probably null Het
Atp6v1h T A 1: 5,165,911 (GRCm39) L127Q probably damaging Het
Bcl2l1 G A 2: 152,671,870 (GRCm39) S14F probably damaging Het
Bhmt1b T G 18: 87,775,382 (GRCm39) F302V probably damaging Het
Birc6 G A 17: 74,930,853 (GRCm39) A2477T probably benign Het
Bpifb9a G A 2: 154,112,941 (GRCm39) A589T possibly damaging Het
Casp9 C A 4: 141,533,151 (GRCm39) T252K probably benign Het
Cct4 G A 11: 22,952,922 (GRCm39) D533N probably damaging Het
Clcn6 A C 4: 148,098,358 (GRCm39) I555S probably damaging Het
Col4a4 A T 1: 82,475,543 (GRCm39) probably null Het
Cyp2d10 A T 15: 82,288,129 (GRCm39) probably null Het
D930048N14Rik A G 11: 51,545,740 (GRCm39) probably benign Het
Dhfr A G 13: 92,504,815 (GRCm39) probably benign Het
Dlg5 T C 14: 24,204,764 (GRCm39) probably null Het
Dnah11 T C 12: 118,002,430 (GRCm39) E2240G probably damaging Het
Dnmt3a A G 12: 3,916,088 (GRCm39) E17G probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Dpy19l2 A G 9: 24,580,618 (GRCm39) M241T probably benign Het
Dpy19l4 A G 4: 11,296,034 (GRCm39) S212P probably damaging Het
Ephb6 T C 6: 41,593,040 (GRCm39) F426S probably damaging Het
F5 A T 1: 164,026,402 (GRCm39) D1658V probably benign Het
Faah A T 4: 115,856,755 (GRCm39) V469E probably damaging Het
Fas T C 19: 34,294,013 (GRCm39) C123R probably damaging Het
Fhod1 T C 8: 106,065,546 (GRCm39) probably benign Het
Filip1 A G 9: 79,805,589 (GRCm39) V55A probably benign Het
Frmpd1 G A 4: 45,273,197 (GRCm39) R372Q probably damaging Het
Glyctk C T 9: 106,034,806 (GRCm39) G87S probably damaging Het
Golga3 T C 5: 110,357,744 (GRCm39) L1080P probably damaging Het
Gpr137 T C 19: 6,915,812 (GRCm39) T281A probably benign Het
Grap2 T A 15: 80,532,612 (GRCm39) probably null Het
Hlcs T C 16: 94,069,151 (GRCm39) D170G probably damaging Het
Hook1 A G 4: 95,901,493 (GRCm39) T484A probably benign Het
Hoxa5 T A 6: 52,180,771 (GRCm39) H187L probably benign Het
Inpp1 G T 1: 52,829,253 (GRCm39) S255R probably benign Het
Iqgap3 A G 3: 87,994,616 (GRCm39) N105S probably damaging Het
Kcnq5 A G 1: 21,539,692 (GRCm39) probably null Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Klk1b24 C A 7: 43,840,785 (GRCm39) T71N probably benign Het
Loxhd1 A G 18: 77,468,269 (GRCm39) probably null Het
Lrp1b C T 2: 41,001,071 (GRCm39) R2165Q probably benign Het
Lrp2bp A T 8: 46,478,272 (GRCm39) Q328L possibly damaging Het
Lrrc63 T A 14: 75,344,829 (GRCm39) K419N possibly damaging Het
Lrrc9 A G 12: 72,547,533 (GRCm39) N150S probably benign Het
Lrrn4 C A 2: 132,713,995 (GRCm39) C317F probably damaging Het
Ltbp2 T C 12: 84,860,074 (GRCm39) S627G probably damaging Het
Macf1 A T 4: 123,386,947 (GRCm39) S1224T probably damaging Het
Meis2 A C 2: 115,889,151 (GRCm39) H200Q probably benign Het
Mesd C A 7: 83,544,790 (GRCm39) A80E probably benign Het
Mtor G T 4: 148,610,450 (GRCm39) probably benign Het
Myo3a T C 2: 22,467,939 (GRCm39) F398L probably benign Het
Nagpa G T 16: 5,019,392 (GRCm39) probably benign Het
Nanp A G 2: 150,872,749 (GRCm39) C60R probably benign Het
Nectin2 T G 7: 19,464,041 (GRCm39) M313L probably benign Het
Nek4 C T 14: 30,678,844 (GRCm39) H123Y probably damaging Het
Nploc4 A G 11: 120,299,607 (GRCm39) V371A probably damaging Het
Ntrk3 T C 7: 78,005,762 (GRCm39) probably benign Het
Or11g7 A G 14: 50,690,634 (GRCm39) T42A possibly damaging Het
Or13c7b A G 4: 43,820,723 (GRCm39) F213L probably benign Het
Or52n4 T C 7: 104,294,153 (GRCm39) N140S probably benign Het
Or5b109 T A 19: 13,212,265 (GRCm39) V217E possibly damaging Het
Pcdh20 T A 14: 88,706,673 (GRCm39) Q209L probably benign Het
Pcdhb20 G A 18: 37,637,750 (GRCm39) R92H probably damaging Het
Pgap1 T C 1: 54,567,714 (GRCm39) H377R probably benign Het
Phyhipl G T 10: 70,406,798 (GRCm39) P52Q probably damaging Het
Plekhg4 T C 8: 106,107,672 (GRCm39) probably benign Het
Pwwp2a T A 11: 43,596,383 (GRCm39) V516E possibly damaging Het
Rack1 T C 11: 48,692,586 (GRCm39) V69A probably damaging Het
Rexo5 T A 7: 119,400,581 (GRCm39) probably null Het
Rnf123 T C 9: 107,948,665 (GRCm39) probably benign Het
Rock1 G T 18: 10,072,863 (GRCm39) Q1161K possibly damaging Het
Rps6ka2 T C 17: 7,560,266 (GRCm39) L568P probably damaging Het
Seh1l T C 18: 67,917,054 (GRCm39) S78P probably damaging Het
Serpinb3b A T 1: 107,083,573 (GRCm39) probably null Het
Setd1a T C 7: 127,387,512 (GRCm39) probably benign Het
Setx G T 2: 29,030,401 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,791,545 (GRCm39) probably benign Het
Shc2 G T 10: 79,467,136 (GRCm39) R146S probably damaging Het
Skap2 T C 6: 51,886,348 (GRCm39) T5A probably benign Het
Skor2 A T 18: 76,964,340 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,480,983 (GRCm39) I93M probably benign Het
Sohlh1 C T 2: 25,733,359 (GRCm39) G295D probably damaging Het
Speg A G 1: 75,405,128 (GRCm39) probably benign Het
Sult2a8 A C 7: 14,150,208 (GRCm39) C168G probably benign Het
Tax1bp1 T C 6: 52,704,179 (GRCm39) probably benign Het
Tbc1d4 T C 14: 101,685,124 (GRCm39) I1176V possibly damaging Het
Tcof1 A G 18: 60,952,026 (GRCm39) probably benign Het
Thada A T 17: 84,744,104 (GRCm39) F735I possibly damaging Het
Tle1 A C 4: 72,058,068 (GRCm39) H52Q probably damaging Het
Tmem101 A T 11: 102,044,155 (GRCm39) V244E probably damaging Het
Tnfrsf26 C A 7: 143,171,668 (GRCm39) C95F probably damaging Het
Uspl1 T C 5: 149,150,842 (GRCm39) S482P probably benign Het
Vmn2r118 G T 17: 55,917,935 (GRCm39) N192K probably benign Het
Vmn2r14 C T 5: 109,368,195 (GRCm39) V266I possibly damaging Het
Vmn2r51 A G 7: 9,834,249 (GRCm39) I263T probably damaging Het
Zfp937 T A 2: 150,080,967 (GRCm39) C332* probably null Het
Zscan21 T A 5: 138,123,470 (GRCm39) S50T probably benign 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
R0083:Inpp4b UTSW 8 82,468,091 (GRCm39) missense possibly damaging 0.77
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
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'- TGCCATCCCGGAGCACTCAA -3'
(R):5'- CAGCCAGCAAGAGACCACAAGTT -3'

Sequencing Primer
(F):5'- GAACTCTCAATTCAGCTTGGCAG -3'
(R):5'- ggggggagggagagagag -3'
Posted On 2014-05-23