Incidental Mutation 'R6385:Inpp5d'
ID 515530
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 044534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R6385 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87548034-87648229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87627397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 566 (L566Q)
Ref Sequence ENSEMBL: ENSMUSP00000127941 (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: L565Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044647
Gene: ENSMUSG00000026288
AA Change: L565Q

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 possibly damaging
Transcript: ENSMUST00000072999
AA Change: L565Q

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072763
Gene: ENSMUSG00000026288
AA Change: L565Q

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 damaging
Transcript: ENSMUST00000167032
AA Change: L303Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126569
Gene: ENSMUSG00000026288
AA Change: L303Q

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: L566Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131244
Gene: ENSMUSG00000026288
AA Change: L566Q

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: L566Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127941
Gene: ENSMUSG00000026288
AA Change: L566Q

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 damaging
Transcript: ENSMUST00000170300
AA Change: L303Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132384
Gene: ENSMUSG00000026288
AA Change: L303Q

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 0.9048 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,236 (GRCm39) M910L probably benign Het
Abca9 T A 11: 110,025,080 (GRCm39) I988F probably damaging Het
Adgra2 A T 8: 27,608,878 (GRCm39) S92C probably damaging Het
Apon A G 10: 128,090,223 (GRCm39) probably benign Het
Arap3 G A 18: 38,130,084 (GRCm39) R26* probably null Het
Btnl6 T G 17: 34,727,343 (GRCm39) I396L probably benign Het
Catsper3 G T 13: 55,934,239 (GRCm39) Q53H probably damaging Het
Cep164 T G 9: 45,691,081 (GRCm39) E372A probably damaging Het
Cln3 A T 7: 126,174,207 (GRCm39) C339S probably null Het
Cntnap2 G A 6: 46,833,114 (GRCm39) D776N probably benign Het
Cttnbp2nl A G 3: 104,912,952 (GRCm39) F311L probably benign Het
Daam2 C T 17: 49,770,964 (GRCm39) A918T probably damaging Het
Dst T C 1: 34,346,549 (GRCm39) V7353A possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fanca A T 8: 124,032,606 (GRCm39) probably null Het
Filip1 G T 9: 79,727,813 (GRCm39) Q269K possibly damaging Het
Fut9 G A 4: 25,620,328 (GRCm39) S162L probably damaging Het
Gtf2ird1 A T 5: 134,433,544 (GRCm39) H294Q probably benign Het
Gucy1a1 A G 3: 82,016,313 (GRCm39) I225T probably benign Het
H2-DMb1 T A 17: 34,374,576 (GRCm39) N75K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hes1 A G 16: 29,884,424 (GRCm39) M6V possibly damaging Het
Hydin A T 8: 111,038,856 (GRCm39) H198L possibly damaging Het
Iars1 T C 13: 49,855,371 (GRCm39) L266P probably damaging Het
Ifna11 A G 4: 88,738,386 (GRCm39) E64G probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lama5 T C 2: 179,838,326 (GRCm39) T850A probably damaging Het
Lgi3 A G 14: 70,768,610 (GRCm39) T36A possibly damaging Het
Lrp2 T C 2: 69,326,128 (GRCm39) S1810G probably benign Het
Lypd10 A T 7: 24,413,535 (GRCm39) I184F probably damaging Het
Msln T A 17: 25,970,115 (GRCm39) D280V probably benign Het
Myh4 A T 11: 67,146,663 (GRCm39) I1513F probably damaging Het
Ncf2 A T 1: 152,706,173 (GRCm39) M262L probably benign Het
Neb G T 2: 52,075,311 (GRCm39) A218D probably damaging Het
Notch4 C A 17: 34,792,788 (GRCm39) Q640K probably null Het
Or4f7 T C 2: 111,644,964 (GRCm39) I36V probably benign Het
Or52e19b A T 7: 103,033,104 (GRCm39) V35D possibly damaging Het
Or6k6 A T 1: 173,944,862 (GRCm39) F240Y probably damaging Het
Pear1 G T 3: 87,661,506 (GRCm39) H562N probably benign Het
Poli C A 18: 70,663,072 (GRCm39) probably benign Het
Ppp3r2 A G 4: 49,681,767 (GRCm39) I61T possibly damaging Het
Rfc5 T C 5: 117,523,463 (GRCm39) T112A probably benign Het
Serhl A G 15: 82,985,823 (GRCm39) T5A probably benign Het
Shank3 T C 15: 89,405,578 (GRCm39) probably null Het
Slc22a28 A G 19: 8,078,844 (GRCm39) S282P probably damaging Het
Slc2a12 C T 10: 22,569,929 (GRCm39) T540I possibly damaging Het
Slurp2 T C 15: 74,618,524 (GRCm39) M1V probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tln2 C T 9: 67,185,411 (GRCm39) A700T probably benign Het
Ttn C T 2: 76,748,192 (GRCm39) V4286I probably benign Het
Ube2u A G 4: 100,389,341 (GRCm39) K214R possibly damaging Het
Vmn1r46 A G 6: 89,953,427 (GRCm39) H92R probably damaging Het
Wdr90 A G 17: 26,067,504 (GRCm39) I1486T probably damaging Het
Zc3h11a A T 1: 133,565,192 (GRCm39) S236T possibly damaging Het
Zfp318 A G 17: 46,721,932 (GRCm39) K1312E probably damaging Het
Zfp930 A G 8: 69,681,283 (GRCm39) Y326C probably damaging Het
Zfp972 G T 2: 177,563,588 (GRCm39) D8E probably damaging 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
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
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'- GACTCTGTGTTCCCAGTTGG -3'
(R):5'- CCTGGTTCTGAGTGTTCACATG -3'

Sequencing Primer
(F):5'- GGTTTCCCAGACACACTCAGG -3'
(R):5'- CTGAGTGTTCACATGTCTCTTTG -3'
Posted On 2018-05-04