Incidental Mutation 'R6302:Inpp4b'
ID 509282
Institutional Source Beutler Lab
Gene Symbol Inpp4b
Ensembl Gene ENSMUSG00000037940
Gene Name inositol polyphosphate-4-phosphatase, type II
Synonyms E130107I17Rik
MMRRC Submission 044467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 82069185-82854543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82494806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 74 (T74A)
Ref Sequence ENSEMBL: ENSMUSP00000150541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]
AlphaFold Q6P1Y8
Predicted Effect probably benign
Transcript: ENSMUST00000042529
AA Change: T74A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: T74A

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: T74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: T74A

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 benign
Transcript: ENSMUST00000169116
AA Change: T74A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: T74A

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 benign
Transcript: ENSMUST00000172031
AA Change: T74A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: T74A

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: ENSMUST00000213285
AA Change: T74A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215332
AA Change: T74A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217122
AA Change: T74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216036
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G T 4: 144,396,760 (GRCm39) S324* probably null Het
Actl11 T G 9: 107,806,772 (GRCm39) V365G probably benign Het
Adgrg6 T A 10: 14,317,227 (GRCm39) D531V probably benign Het
Ankrd11 A G 8: 123,616,728 (GRCm39) S2354P probably benign Het
Ano9 A T 7: 140,684,221 (GRCm39) W514R probably damaging Het
Arfgef3 A T 10: 18,528,589 (GRCm39) V266E probably damaging Het
Bahcc1 T C 11: 120,167,634 (GRCm39) I1345T probably damaging Het
Bpifb4 G A 2: 153,801,587 (GRCm39) M355I probably benign Het
Catsperb T C 12: 101,554,402 (GRCm39) S699P possibly damaging Het
Cdh23 T G 10: 60,140,872 (GRCm39) I3161L possibly damaging Het
Chd3 T C 11: 69,244,604 (GRCm39) T1257A probably damaging Het
Cnnm4 C T 1: 36,539,036 (GRCm39) T638I probably benign Het
Cspg4b A G 13: 113,504,646 (GRCm39) D1925G probably damaging Het
Cyp26c1 A G 19: 37,674,936 (GRCm39) T86A probably damaging Het
Cyp3a63-ps A G 5: 145,564,847 (GRCm39) noncoding transcript Het
Dnah14 T A 1: 181,428,771 (GRCm39) I259N possibly damaging Het
Dnah17 T C 11: 118,019,981 (GRCm39) D22G probably benign Het
Epn2 T G 11: 61,437,312 (GRCm39) T87P probably damaging Het
Fbxl18 A G 5: 142,874,578 (GRCm39) L81P probably damaging Het
Gas1 A T 13: 60,323,970 (GRCm39) D221E probably damaging Het
Gm8356 T C 14: 17,691,275 (GRCm39) Y130C probably damaging Het
Gpr151 T G 18: 42,712,459 (GRCm39) K73T probably damaging Het
Helq A C 5: 100,946,305 (GRCm39) V12G probably damaging Het
Kirrel3 G A 9: 34,919,045 (GRCm39) V234I probably damaging Het
Kxd1 T A 8: 70,972,713 (GRCm39) probably null Het
Lif T C 11: 4,218,924 (GRCm39) Y68H probably damaging Het
Map6 A G 7: 98,985,314 (GRCm39) Q406R probably damaging Het
Mcoln3 A T 3: 145,830,527 (GRCm39) M86L probably benign Het
Mei1 T A 15: 81,987,439 (GRCm39) Y834* probably null Het
Mroh1 T C 15: 76,320,319 (GRCm39) probably null Het
Myo15b T C 11: 115,777,065 (GRCm39) I2319T possibly damaging Het
Myo7b T G 18: 32,127,439 (GRCm39) D621A probably damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nek7 T C 1: 138,426,351 (GRCm39) D254G probably damaging Het
Nsd2 A G 5: 34,024,921 (GRCm39) R560G possibly damaging Het
Or2t46 T C 11: 58,472,464 (GRCm39) F265L probably benign Het
Or52x1 A T 7: 104,852,926 (GRCm39) L208H probably damaging Het
Pbx1 T A 1: 168,018,910 (GRCm39) T312S probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,610,097 (GRCm39) S390G probably damaging Het
Plcxd3 C T 15: 4,546,239 (GRCm39) T81M probably damaging Het
Pmf1 C T 3: 88,307,017 (GRCm39) probably null Het
Rabep1 T C 11: 70,825,947 (GRCm39) V739A probably damaging Het
Rex2 A G 4: 147,142,451 (GRCm39) D313G possibly damaging Het
Rpia C T 6: 70,750,485 (GRCm39) V216I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sec13 T A 6: 113,712,167 (GRCm39) H56L probably damaging Het
Sec16a A T 2: 26,315,817 (GRCm39) V1733D probably damaging Het
Sim2 G A 16: 93,898,089 (GRCm39) A108T probably damaging Het
Slc27a5 T C 7: 12,722,479 (GRCm39) D665G probably damaging Het
Slc38a6 T A 12: 73,383,849 (GRCm39) V180E probably damaging Het
Smarcad1 T G 6: 65,052,122 (GRCm39) N38K possibly damaging Het
Spem2 T C 11: 69,709,091 (GRCm39) T45A possibly damaging Het
Svil T C 18: 5,057,432 (GRCm39) S714P probably benign Het
Taar7b T A 10: 23,876,158 (GRCm39) S108T possibly damaging Het
Tbl3 T C 17: 24,923,645 (GRCm39) K256E probably benign Het
Tcam1 T G 11: 106,177,276 (GRCm39) C423G probably damaging Het
Trpm4 A T 7: 44,977,143 (GRCm39) probably null Het
Ttyh2 T C 11: 114,592,662 (GRCm39) C231R probably damaging Het
Ugt3a1 C T 15: 9,365,397 (GRCm39) P337S probably damaging Het
Vmn2r83 A C 10: 79,304,837 (GRCm39) T16P possibly damaging Het
Vps52 T C 17: 34,182,189 (GRCm39) F589S probably damaging Het
Xkr4 T C 1: 3,286,961 (GRCm39) T410A probably damaging Het
Xkr9 A G 1: 13,742,726 (GRCm39) T4A probably damaging Het
Yars2 T C 16: 16,122,438 (GRCm39) L268P probably damaging Het
Zbtb41 C A 1: 139,357,027 (GRCm39) N427K possibly damaging Het
Zeb2 T C 2: 44,887,771 (GRCm39) T414A 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
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
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'- GCTCTGCTCAGAAGTTTGCC -3'
(R):5'- AAGTCAGCTGTTCAGAGGGG -3'

Sequencing Primer
(F):5'- CCTAGAGAGATCGACTGAGTTCC -3'
(R):5'- CTGTTCAGAGGGGCGGAG -3'
Posted On 2018-04-02