Incidental Mutation 'R5159:Inpp5d'
ID 396859
Institutional Source Beutler Lab
Gene Symbol Inpp5d
Ensembl Gene ENSMUSG00000026288
Gene Name inositol polyphosphate-5-phosphatase D
Synonyms SHIP1, Src homology 2 domain-containing inositol-5-phosphatase, s-SHIP, SHIP, SHIP-1
MMRRC Submission 042741-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R5159 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87548034-87648229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87604064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 244 (L244P)
Ref Sequence ENSEMBL: ENSMUSP00000044647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042275] [ENSMUST00000072999] [ENSMUST00000167032] [ENSMUST00000168783] [ENSMUST00000169754] [ENSMUST00000170300]
AlphaFold Q9ES52
Predicted Effect probably damaging
Transcript: ENSMUST00000042275
AA Change: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044647
Gene: ENSMUSG00000026288
AA Change: L244P

DomainStartEndE-ValueType
SH2 6 95 7.15e-29 SMART
low complexity region 107 120 N/A INTRINSIC
IPPc 404 720 4.5e-104 SMART
low complexity region 767 777 N/A INTRINSIC
low complexity region 954 979 N/A INTRINSIC
low complexity region 1045 1057 N/A INTRINSIC
low complexity region 1119 1131 N/A INTRINSIC
low complexity region 1139 1148 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000072999
AA Change: L244P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072763
Gene: ENSMUSG00000026288
AA Change: L244P

DomainStartEndE-ValueType
SH2 6 95 7.15e-29 SMART
low complexity region 107 120 N/A INTRINSIC
IPPc 404 720 4.5e-104 SMART
low complexity region 767 777 N/A INTRINSIC
low complexity region 932 953 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167032
SMART Domains Protein: ENSMUSP00000126569
Gene: ENSMUSG00000026288

DomainStartEndE-ValueType
IPPc 142 458 4.5e-104 SMART
low complexity region 505 515 N/A INTRINSIC
low complexity region 692 717 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
low complexity region 857 869 N/A INTRINSIC
low complexity region 877 886 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168783
AA Change: L245P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131244
Gene: ENSMUSG00000026288
AA Change: L245P

DomainStartEndE-ValueType
SH2 6 95 7.15e-29 SMART
low complexity region 107 118 N/A INTRINSIC
IPPc 405 721 4.5e-104 SMART
low complexity region 768 778 N/A INTRINSIC
low complexity region 985 997 N/A INTRINSIC
low complexity region 1059 1071 N/A INTRINSIC
low complexity region 1079 1088 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169754
AA Change: L245P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127941
Gene: ENSMUSG00000026288
AA Change: L245P

DomainStartEndE-ValueType
SH2 6 95 4.6e-31 SMART
low complexity region 107 118 N/A INTRINSIC
IPPc 405 721 2.2e-106 SMART
low complexity region 768 778 N/A INTRINSIC
low complexity region 955 980 N/A INTRINSIC
low complexity region 1046 1058 N/A INTRINSIC
low complexity region 1120 1132 N/A INTRINSIC
low complexity region 1140 1149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170300
SMART Domains Protein: ENSMUSP00000132384
Gene: ENSMUSG00000026288

DomainStartEndE-ValueType
IPPc 142 458 4.5e-104 SMART
low complexity region 505 515 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
low complexity region 796 808 N/A INTRINSIC
low complexity region 816 825 N/A INTRINSIC
Meta Mutation Damage Score 0.2001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,352 (GRCm39) T412A probably benign Het
Aldh5a1 T A 13: 25,097,776 (GRCm39) M420L possibly damaging Het
Armc2 A G 10: 41,884,711 (GRCm39) S77P probably damaging Het
Avil A G 10: 126,856,317 (GRCm39) probably null Het
Bltp3a A G 17: 28,100,530 (GRCm39) H323R probably damaging Het
Bmp5 T A 9: 75,801,035 (GRCm39) F388L probably damaging Het
Brca2 T G 5: 150,465,573 (GRCm39) V1779G possibly damaging Het
Cblb T A 16: 51,932,483 (GRCm39) S147T probably damaging Het
Cblc T C 7: 19,519,233 (GRCm39) E409G probably benign Het
Cdc34b C T 11: 94,632,886 (GRCm39) R29W probably damaging Het
Clic6 T A 16: 92,324,954 (GRCm39) Y371N probably benign Het
Col5a2 A G 1: 45,425,991 (GRCm39) probably null Het
Coro1a A T 7: 126,302,221 (GRCm39) V42D probably damaging Het
Cpa3 C T 3: 20,281,387 (GRCm39) C173Y probably damaging Het
Crb1 A C 1: 139,170,756 (GRCm39) V817G probably damaging Het
Cyp2c39 A G 19: 39,549,378 (GRCm39) T299A possibly damaging Het
Dock5 G A 14: 68,029,738 (GRCm39) R1019C probably benign Het
Exoc8 T C 8: 125,622,952 (GRCm39) T472A probably benign Het
Fancc A G 13: 63,469,679 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,852,733 (GRCm39) M1340K probably benign Het
Ireb2 A G 9: 54,799,831 (GRCm39) N424S probably benign Het
Krt35 T C 11: 99,984,875 (GRCm39) D261G probably damaging Het
Lipc T A 9: 70,720,192 (GRCm39) I272L probably benign Het
Lpcat3 A G 6: 124,676,357 (GRCm39) probably benign Het
Lzts1 T C 8: 69,591,236 (GRCm39) D304G probably benign Het
Mdn1 A G 4: 32,774,008 (GRCm39) I5540V possibly damaging Het
Msln T C 17: 25,970,563 (GRCm39) S231G probably benign Het
Mup8 G A 4: 60,221,062 (GRCm39) T101M probably benign Het
Myh8 T C 11: 67,179,179 (GRCm39) I524T probably damaging Het
Pappa2 A G 1: 158,589,189 (GRCm39) C1679R probably damaging Het
Pcdhb1 T C 18: 37,399,416 (GRCm39) S456P possibly damaging Het
Pcdhga5 A G 18: 37,828,719 (GRCm39) N389S probably benign Het
Pitrm1 C A 13: 6,617,507 (GRCm39) S620R probably benign Het
Plod3 T A 5: 137,023,932 (GRCm39) probably benign Het
Por A T 5: 135,759,771 (GRCm39) Q194L probably benign Het
Prkag3 A T 1: 74,780,646 (GRCm39) Y396N probably damaging Het
R3hcc1 T C 14: 69,935,053 (GRCm39) probably null Het
Rcan3 C T 4: 135,152,592 (GRCm39) S43N probably damaging Het
Rhot1 A G 11: 80,111,098 (GRCm39) T31A probably damaging Het
Rnps1 T G 17: 24,637,486 (GRCm39) S43A unknown Het
Rp1 T C 1: 4,416,426 (GRCm39) D1562G possibly damaging Het
Rps19-ps13 A G 18: 40,859,428 (GRCm39) noncoding transcript Het
Serpina3c A T 12: 104,115,771 (GRCm39) S258T possibly damaging Het
Smc2 G A 4: 52,460,181 (GRCm39) R519Q possibly damaging Het
Sorbs2 A T 8: 46,248,767 (GRCm39) T593S probably benign Het
Sptbn2 A G 19: 4,787,885 (GRCm39) T955A probably benign Het
Stfa3 T C 16: 36,272,581 (GRCm39) K40E probably damaging Het
Tmem87b A G 2: 128,666,378 (GRCm39) E75G probably benign Het
Tmprss15 T C 16: 78,800,298 (GRCm39) Q595R probably benign Het
Trak1 A T 9: 121,289,478 (GRCm39) I597F probably damaging Het
Trat1 T C 16: 48,555,300 (GRCm39) D144G probably damaging Het
Trim25 T C 11: 88,890,358 (GRCm39) V15A probably benign Het
Tulp1 A C 17: 28,578,034 (GRCm39) probably null Het
Txndc15 T A 13: 55,865,734 (GRCm39) M66K probably benign Het
Vmn1r206 T A 13: 22,804,775 (GRCm39) N144I probably damaging Het
Wwc2 T C 8: 48,353,796 (GRCm39) T113A probably benign Het
Xpo5 A C 17: 46,528,535 (GRCm39) E313D probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Other mutations in Inpp5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Inpp5d APN 1 87,611,537 (GRCm39) missense probably benign 0.00
IGL00329:Inpp5d APN 1 87,595,725 (GRCm39) missense probably benign 0.00
IGL00897:Inpp5d APN 1 87,639,836 (GRCm39) missense probably benign 0.14
IGL01314:Inpp5d APN 1 87,611,472 (GRCm39) nonsense probably null
IGL02145:Inpp5d APN 1 87,642,777 (GRCm39) missense probably damaging 1.00
IGL02422:Inpp5d APN 1 87,635,854 (GRCm39) missense probably damaging 1.00
IGL02538:Inpp5d APN 1 87,623,088 (GRCm39) missense probably null 0.92
IGL02680:Inpp5d APN 1 87,629,205 (GRCm39) missense possibly damaging 0.87
IGL03083:Inpp5d APN 1 87,638,863 (GRCm39) missense probably damaging 1.00
IGL03308:Inpp5d APN 1 87,630,919 (GRCm39) missense probably damaging 1.00
americas UTSW 1 87,642,864 (GRCm39) missense probably damaging 1.00
Apfelsine UTSW 1 87,611,567 (GRCm39) nonsense probably null
Auburn UTSW 1 87,609,402 (GRCm39) splice site probably null
Autumnal UTSW 1 87,619,433 (GRCm39) missense probably damaging 0.97
Gourd UTSW 1 87,625,337 (GRCm39) intron probably benign
lyda UTSW 1 87,611,484 (GRCm39) missense probably damaging 1.00
Mandarin UTSW 1 87,637,348 (GRCm39) missense probably damaging 0.99
naranjo UTSW 1 87,635,933 (GRCm39) critical splice donor site probably null
New_black UTSW 1 87,637,397 (GRCm39) missense probably damaging 1.00
Orange UTSW 1 87,625,268 (GRCm39) critical splice donor site probably null
pantone UTSW 1 87,627,397 (GRCm39) missense probably damaging 1.00
sailing UTSW 1 87,633,686 (GRCm39) missense probably damaging 1.00
Salamander UTSW 1 87,623,102 (GRCm39) missense probably damaging 0.99
Sandstone UTSW 1 87,623,122 (GRCm39) missense probably damaging 1.00
styx UTSW 1 87,597,506 (GRCm39) critical splice donor site probably benign
tangerine UTSW 1 87,633,671 (GRCm39) missense probably damaging 1.00
ulster UTSW 1 87,629,198 (GRCm39) nonsense probably null
R0010:Inpp5d UTSW 1 87,625,268 (GRCm39) critical splice donor site probably null
R0037:Inpp5d UTSW 1 87,635,851 (GRCm39) missense probably damaging 0.99
R0087:Inpp5d UTSW 1 87,642,860 (GRCm39) missense probably damaging 1.00
R0492:Inpp5d UTSW 1 87,625,872 (GRCm39) missense possibly damaging 0.94
R0520:Inpp5d UTSW 1 87,633,642 (GRCm39) splice site probably benign
R0733:Inpp5d UTSW 1 87,595,799 (GRCm39) splice site probably benign
R1464:Inpp5d UTSW 1 87,625,827 (GRCm39) splice site probably benign
R1576:Inpp5d UTSW 1 87,609,280 (GRCm39) missense probably damaging 0.96
R1576:Inpp5d UTSW 1 87,597,407 (GRCm39) missense probably benign 0.16
R1592:Inpp5d UTSW 1 87,593,254 (GRCm39) missense possibly damaging 0.90
R1750:Inpp5d UTSW 1 87,626,803 (GRCm39) missense probably damaging 1.00
R1774:Inpp5d UTSW 1 87,595,611 (GRCm39) missense probably benign 0.30
R1972:Inpp5d UTSW 1 87,604,036 (GRCm39) missense probably benign 0.00
R2024:Inpp5d UTSW 1 87,623,072 (GRCm39) nonsense probably null
R2405:Inpp5d UTSW 1 87,627,451 (GRCm39) missense possibly damaging 0.94
R3412:Inpp5d UTSW 1 87,595,779 (GRCm39) missense possibly damaging 0.93
R3414:Inpp5d UTSW 1 87,595,779 (GRCm39) missense possibly damaging 0.93
R3756:Inpp5d UTSW 1 87,629,130 (GRCm39) splice site probably benign
R4652:Inpp5d UTSW 1 87,593,173 (GRCm39) missense probably benign 0.03
R4676:Inpp5d UTSW 1 87,642,864 (GRCm39) missense probably damaging 1.00
R4834:Inpp5d UTSW 1 87,625,245 (GRCm39) missense possibly damaging 0.52
R5086:Inpp5d UTSW 1 87,633,686 (GRCm39) missense probably damaging 1.00
R5250:Inpp5d UTSW 1 87,637,397 (GRCm39) missense probably damaging 1.00
R5442:Inpp5d UTSW 1 87,645,788 (GRCm39) missense probably benign 0.02
R5875:Inpp5d UTSW 1 87,645,696 (GRCm39) missense possibly damaging 0.47
R6135:Inpp5d UTSW 1 87,548,119 (GRCm39) splice site probably null
R6371:Inpp5d UTSW 1 87,627,397 (GRCm39) missense probably damaging 1.00
R6385:Inpp5d UTSW 1 87,627,397 (GRCm39) missense probably damaging 1.00
R6386:Inpp5d UTSW 1 87,627,397 (GRCm39) missense probably damaging 1.00
R6526:Inpp5d UTSW 1 87,603,972 (GRCm39) start gained probably benign
R6572:Inpp5d UTSW 1 87,623,118 (GRCm39) missense probably damaging 0.99
R6831:Inpp5d UTSW 1 87,629,198 (GRCm39) nonsense probably null
R6853:Inpp5d UTSW 1 87,609,402 (GRCm39) splice site probably null
R6883:Inpp5d UTSW 1 87,627,412 (GRCm39) missense probably damaging 0.98
R7082:Inpp5d UTSW 1 87,623,102 (GRCm39) missense probably damaging 0.99
R7215:Inpp5d UTSW 1 87,628,940 (GRCm39) missense probably benign 0.30
R7418:Inpp5d UTSW 1 87,635,933 (GRCm39) critical splice donor site probably null
R7471:Inpp5d UTSW 1 87,623,122 (GRCm39) missense probably damaging 1.00
R7593:Inpp5d UTSW 1 87,645,500 (GRCm39) missense possibly damaging 0.82
R7716:Inpp5d UTSW 1 87,593,121 (GRCm39) missense probably damaging 0.97
R7781:Inpp5d UTSW 1 87,627,394 (GRCm39) missense probably damaging 1.00
R7808:Inpp5d UTSW 1 87,611,567 (GRCm39) nonsense probably null
R7920:Inpp5d UTSW 1 87,633,671 (GRCm39) missense probably damaging 1.00
R8788:Inpp5d UTSW 1 87,611,484 (GRCm39) missense probably damaging 1.00
R8839:Inpp5d UTSW 1 87,619,433 (GRCm39) missense probably damaging 0.97
R8905:Inpp5d UTSW 1 87,637,348 (GRCm39) missense probably damaging 0.99
R8906:Inpp5d UTSW 1 87,625,337 (GRCm39) intron probably benign
R9517:Inpp5d UTSW 1 87,638,853 (GRCm39) missense probably benign 0.01
R9667:Inpp5d UTSW 1 87,623,128 (GRCm39) missense probably damaging 1.00
R9716:Inpp5d UTSW 1 87,625,191 (GRCm39) missense possibly damaging 0.90
Z1176:Inpp5d UTSW 1 87,630,853 (GRCm39) missense probably damaging 1.00
Z1176:Inpp5d UTSW 1 87,597,431 (GRCm39) missense probably benign 0.16
Z1191:Inpp5d UTSW 1 87,611,492 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACGGGCCAACTGATCTTTG -3'
(R):5'- AGCTGATGCCAGGAAATGCC -3'

Sequencing Primer
(F):5'- AACTGATCTTTGCCGGGGC -3'
(R):5'- CTTCACAAAAGGGCATGGAGTCTATC -3'
Posted On 2016-06-21