Incidental Mutation 'R0562:Inpp4b'
ID 45951
Institutional Source Beutler Lab
Gene Symbol Inpp4b
Ensembl Gene ENSMUSG00000037940
Gene Name inositol polyphosphate-4-phosphatase, type II
Synonyms E130107I17Rik
MMRRC Submission 038753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0562 (G1)
Quality Score 145
Status Validated
Chromosome 8
Chromosomal Location 82069185-82854543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82494780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 65 (I65T)
Ref Sequence ENSEMBL: ENSMUSP00000148972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]
AlphaFold Q6P1Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000042529
AA Change: I65T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: I65T

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 possibly damaging
Transcript: ENSMUST00000109852
AA Change: I65T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: I65T

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 possibly damaging
Transcript: ENSMUST00000169116
AA Change: I65T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: I65T

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 possibly damaging
Transcript: ENSMUST00000172031
AA Change: I65T

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: I65T

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: ENSMUST00000213285
AA Change: I65T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215332
AA Change: I65T

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217122
AA Change: I65T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216036
Meta Mutation Damage Score 0.3053 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb C T 7: 131,027,518 (GRCm39) Q63* probably null Het
Adam26b A T 8: 43,973,408 (GRCm39) N531K probably benign Het
Agt A G 8: 125,286,014 (GRCm39) I356T probably benign Het
Ankmy1 A T 1: 92,827,413 (GRCm39) probably benign Het
Anxa3 C T 5: 96,960,743 (GRCm39) S49L possibly damaging Het
Arap3 C A 18: 38,108,593 (GRCm39) R1279L probably damaging Het
Azin1 A G 15: 38,493,825 (GRCm39) I266T probably benign Het
Btnl7-ps T C 17: 34,752,498 (GRCm39) noncoding transcript Het
Car5a T A 8: 122,671,469 (GRCm39) T22S probably benign Het
Card6 A G 15: 5,134,648 (GRCm39) I185T probably damaging Het
Ccdc81 T C 7: 89,552,437 (GRCm39) D11G probably benign Het
Cep170b T C 12: 112,705,623 (GRCm39) V1127A probably benign Het
Ces1h T C 8: 94,083,771 (GRCm39) I390M unknown Het
Col9a1 T A 1: 24,218,360 (GRCm39) probably null Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Cyb561a3 T C 19: 10,564,074 (GRCm39) V138A probably benign Het
Dcaf1 T C 9: 106,721,321 (GRCm39) probably benign Het
Dnah17 A G 11: 117,963,726 (GRCm39) Y2516H probably damaging Het
Dsc2 T A 18: 20,174,594 (GRCm39) N521Y probably damaging Het
Dst G A 1: 34,267,062 (GRCm39) E4835K probably damaging Het
Duox2 T C 2: 122,120,080 (GRCm39) E810G probably damaging Het
Dusp15 T C 2: 152,793,268 (GRCm39) N3S possibly damaging Het
Eif1ad9 A G 12: 88,296,436 (GRCm39) D138G unknown Het
Epha4 T C 1: 77,365,124 (GRCm39) K625R probably benign Het
Fcgbpl1 G A 7: 27,862,115 (GRCm39) V2394I probably benign Het
Gata5 C T 2: 179,969,552 (GRCm39) probably null Het
Grm5 A G 7: 87,252,227 (GRCm39) N159S probably damaging Het
Hivep3 T A 4: 119,953,751 (GRCm39) M689K probably benign Het
Ift56 T A 6: 38,378,064 (GRCm39) V292E probably damaging Het
Ilvbl G T 10: 78,419,321 (GRCm39) G499C probably damaging Het
Jarid2 T C 13: 45,055,835 (GRCm39) V208A probably damaging Het
Kcnh4 T C 11: 100,641,070 (GRCm39) M460V possibly damaging Het
Klhl22 A G 16: 17,610,488 (GRCm39) N580D probably benign Het
Klk15 T A 7: 43,588,269 (GRCm39) C192* probably null Het
Klk1b9 A G 7: 43,445,090 (GRCm39) E194G probably damaging Het
Lama1 G T 17: 68,122,954 (GRCm39) G2779V probably damaging Het
Lmln C T 16: 32,937,455 (GRCm39) R607* probably null Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Matk A T 10: 81,095,525 (GRCm39) Y115F probably benign Het
Mettl18 A G 1: 163,824,062 (GRCm39) K128E probably benign Het
Mrps22 T C 9: 98,474,746 (GRCm39) H246R probably benign Het
Msln A T 17: 25,971,980 (GRCm39) M79K probably benign Het
Myf6 G A 10: 107,330,420 (GRCm39) P49L probably benign Het
Nat1 C T 8: 67,943,963 (GRCm39) T113I possibly damaging Het
Ncor2 C T 5: 125,162,093 (GRCm39) V394M unknown Het
Oas1c T C 5: 120,943,669 (GRCm39) probably benign Het
Or8k21 T A 2: 86,144,869 (GRCm39) T254S probably benign Het
Otp A T 13: 95,013,917 (GRCm39) T112S probably damaging Het
Pcdh7 A G 5: 57,877,405 (GRCm39) N320S probably damaging Het
Pdzd2 G T 15: 12,592,364 (GRCm39) F93L probably damaging Het
Phf20l1 A G 15: 66,481,453 (GRCm39) E283G probably damaging Het
Polr1e T C 4: 45,029,421 (GRCm39) F342S probably damaging Het
Pp2d1 T A 17: 53,846,196 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,664,291 (GRCm39) probably null Het
Reg3g A T 6: 78,444,471 (GRCm39) H107Q possibly damaging Het
Rgl1 T C 1: 152,415,696 (GRCm39) K408E probably damaging Het
Samd4 T C 14: 47,314,966 (GRCm39) C309R probably damaging Het
Sestd1 C A 2: 77,061,066 (GRCm39) W104L probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc22a21 T A 11: 53,870,446 (GRCm39) K80* probably null Het
Snx20 T A 8: 89,356,630 (GRCm39) Q62L probably benign Het
Spef1l T C 7: 139,557,026 (GRCm39) M120V probably benign Het
Stk40 C A 4: 126,032,594 (GRCm39) probably benign Het
Taf2 A T 15: 54,885,584 (GRCm39) probably benign Het
Tcf23 C T 5: 31,127,654 (GRCm39) P152L probably damaging Het
Tex29 T C 8: 11,894,138 (GRCm39) probably benign Het
Tjp3 A G 10: 81,116,389 (GRCm39) V235A probably damaging Het
Tns3 A T 11: 8,443,262 (GRCm39) I367N possibly damaging Het
Ttn T A 2: 76,543,255 (GRCm39) M33244L probably benign Het
Ush2a A T 1: 188,089,044 (GRCm39) N333I probably damaging Het
Usp34 T C 11: 23,382,406 (GRCm39) probably benign Het
Vmn1r204 A C 13: 22,740,848 (GRCm39) S160R probably benign Het
Vmn2r75 C T 7: 85,797,449 (GRCm39) W788* probably null Het
Vwa5b1 T C 4: 138,363,022 (GRCm39) probably benign Het
Zbtb7a A G 10: 80,984,163 (GRCm39) E535G probably benign Het
Zfp1004 T A 2: 150,034,494 (GRCm39) C303S probably damaging Het
Zranb3 T C 1: 127,964,295 (GRCm39) D144G 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
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'- TGCCATCCCGGAGCACTCAA -3'
(R):5'- CAGCCAGCAAGAGACCACAAGTT -3'

Sequencing Primer
(F):5'- GAACTCTCAATTCAGCTTGGCAG -3'
(R):5'- ggggggagggagagagag -3'
Posted On 2013-06-11