Incidental Mutation 'R5086:Inpp5d'
ID 387413
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 042675-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R5086 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87548034-87648229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87633686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 441 (H441R)
Ref Sequence ENSEMBL: ENSMUSP00000132384 (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: H703R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044647
Gene: ENSMUSG00000026288
AA Change: H703R

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: H703R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072763
Gene: ENSMUSG00000026288
AA Change: H703R

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 noncoding transcript
Transcript: ENSMUST00000163548
Predicted Effect probably damaging
Transcript: ENSMUST00000167032
AA Change: H441R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126569
Gene: ENSMUSG00000026288
AA Change: H441R

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: H704R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131244
Gene: ENSMUSG00000026288
AA Change: H704R

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: H704R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127941
Gene: ENSMUSG00000026288
AA Change: H704R

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: H441R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132384
Gene: ENSMUSG00000026288
AA Change: H441R

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 0.9565 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
Asb1 A G 1: 91,482,533 (GRCm39) Y214C probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Mrps18a T A 17: 46,436,621 (GRCm39) D143E probably benign Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sec22a G T 16: 35,168,112 (GRCm39) S133* probably null Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) 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
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'- GGCAAGTTCAGGCACCTTTG -3'
(R):5'- GTGATGTGGCCTGAACATGAAG -3'

Sequencing Primer
(F):5'- ACCTTTGCTTCTTGGACTCAGGG -3'
(R):5'- TGTGGCCTGAACATGAAGAGATC -3'
Posted On 2016-06-06