Incidental Mutation 'R0733:Inpp5d'
ID 67078
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 038914-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R0733 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87548034-87648229 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 87595799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042275] [ENSMUST00000072999] [ENSMUST00000163576] [ENSMUST00000168783] [ENSMUST00000169754]
AlphaFold Q9ES52
Predicted Effect probably benign
Transcript: ENSMUST00000042275
SMART Domains Protein: ENSMUSP00000044647
Gene: ENSMUSG00000026288

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 benign
Transcript: ENSMUST00000072999
SMART Domains Protein: ENSMUSP00000072763
Gene: ENSMUSG00000026288

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: ENSMUST00000163576
Predicted Effect probably benign
Transcript: ENSMUST00000165554
SMART Domains Protein: ENSMUSP00000128700
Gene: ENSMUSG00000026288

DomainStartEndE-ValueType
SCOP:d1d4ta_ 17 75 1e-12 SMART
Blast:SH2 19 65 2e-28 BLAST
PDB:2YSX|A 19 76 1e-36 PDB
low complexity region 77 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168783
SMART Domains Protein: ENSMUSP00000131244
Gene: ENSMUSG00000026288

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 benign
Transcript: ENSMUST00000169754
SMART Domains Protein: ENSMUSP00000127941
Gene: ENSMUSG00000026288

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,668,957 (GRCm39) Y88C probably damaging Het
Acbd3 A G 1: 180,579,783 (GRCm39) I476V possibly damaging Het
Apba2 T C 7: 64,399,912 (GRCm39) I689T probably damaging Het
AU018091 A G 7: 3,209,001 (GRCm39) Y362H probably damaging Het
Castor2 T C 5: 134,165,054 (GRCm39) F208L possibly damaging Het
Cdh26 T C 2: 178,128,724 (GRCm39) S759P probably damaging Het
Clcc1 A G 3: 108,582,056 (GRCm39) Q387R probably benign Het
Cobl C T 11: 12,315,167 (GRCm39) G259R probably benign Het
Col4a1 C T 8: 11,268,934 (GRCm39) R968Q possibly damaging Het
Ddr2 A G 1: 169,832,381 (GRCm39) probably benign Het
Dera C A 6: 137,773,846 (GRCm39) N201K probably damaging Het
Dsg1a A C 18: 20,471,725 (GRCm39) E659A probably damaging Het
Dus2 G T 8: 106,772,702 (GRCm39) probably null Het
Ears2 T A 7: 121,647,352 (GRCm39) I311F possibly damaging Het
Eml4 T A 17: 83,761,893 (GRCm39) M417K possibly damaging Het
Exosc4 A T 15: 76,213,616 (GRCm39) M147L probably benign Het
Fam171a2 T A 11: 102,330,548 (GRCm39) Y278F possibly damaging Het
Fastk A C 5: 24,648,921 (GRCm39) H155Q probably null Het
Fem1b G T 9: 62,704,125 (GRCm39) N378K possibly damaging Het
Fut11 C A 14: 20,745,427 (GRCm39) Y119* probably null Het
Gm6797 T C X: 8,511,388 (GRCm39) noncoding transcript Het
Gstt4 T C 10: 75,653,148 (GRCm39) D138G probably benign Het
Hprt1 G A X: 52,091,027 (GRCm39) C66Y probably damaging Het
Ints6l T A X: 55,547,108 (GRCm39) S621T probably benign Het
Ints6l C G X: 55,550,172 (GRCm39) A699G probably benign Het
Kctd3 A G 1: 188,729,247 (GRCm39) probably benign Het
Kntc1 G T 5: 123,928,979 (GRCm39) V1252L probably null Het
Lama5 A T 2: 179,822,511 (GRCm39) M2854K possibly damaging Het
Lcn5 G T 2: 25,551,113 (GRCm39) L187F probably damaging Het
Lrp3 A T 7: 34,901,545 (GRCm39) L758M possibly damaging Het
Ltn1 T A 16: 87,209,395 (GRCm39) I740F probably benign Het
Mcm5 A G 8: 75,853,876 (GRCm39) K710R probably benign Het
Mllt10 A G 2: 18,208,577 (GRCm39) probably benign Het
Nbr1 T A 11: 101,467,197 (GRCm39) M864K probably benign Het
Nkiras2 T C 11: 100,515,758 (GRCm39) probably null Het
Nlrp4d T A 7: 10,116,449 (GRCm39) E144V probably benign Het
Nppc T C 1: 86,597,356 (GRCm39) probably benign Het
Ormdl2 T A 10: 128,655,868 (GRCm39) Q94L probably damaging Het
Paox G C 7: 139,707,440 (GRCm39) D88H probably damaging Het
Prl7a2 T C 13: 27,846,671 (GRCm39) E114G probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Prss54 T C 8: 96,286,368 (GRCm39) D235G possibly damaging Het
Rwdd3 T C 3: 120,965,256 (GRCm39) M24V probably benign Het
Serpinb6e T A 13: 34,025,201 (GRCm39) N30I probably benign Het
Sh3rf1 G A 8: 61,825,594 (GRCm39) A530T probably benign Het
Slc28a1 T C 7: 80,774,648 (GRCm39) I165T probably benign Het
Slco6d1 T A 1: 98,355,994 (GRCm39) L143* probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Snx27 A G 3: 94,469,320 (GRCm39) L7P probably benign Het
Spata31e2 T A 1: 26,722,013 (GRCm39) T1056S possibly damaging Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
St8sia2 C T 7: 73,610,588 (GRCm39) G232S probably benign Het
Sun1 A G 5: 139,216,918 (GRCm39) H255R possibly damaging Het
Tent2 T A 13: 93,291,547 (GRCm39) Q365L probably benign Het
Ube2k A G 5: 65,738,795 (GRCm39) I95V probably damaging Het
Ube2m C A 7: 12,769,679 (GRCm39) E126D probably damaging Het
Vmn2r27 A T 6: 124,169,147 (GRCm39) M661K probably benign Het
Wdr47 A T 3: 108,525,939 (GRCm39) D154V probably damaging Het
Zfp113 A G 5: 138,143,845 (GRCm39) V135A 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
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
R5159:Inpp5d UTSW 1 87,604,064 (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'- CCCAGAAACATTCCTATGTCTGCCG -3'
(R):5'- AGCAGCCCTGTAGAGTGATTTCCC -3'

Sequencing Primer
(F):5'- GTCTCTCCGAGACACTGTTT -3'
(R):5'- GCAATCTTGTACTTACAGGGCAG -3'
Posted On 2013-09-03