Incidental Mutation 'R6895:Inpp5j'
ID 538294
Institutional Source Beutler Lab
Gene Symbol Inpp5j
Ensembl Gene ENSMUSG00000034570
Gene Name inositol polyphosphate 5-phosphatase J
Synonyms Pipp, Pib5pa
MMRRC Submission 044989-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R6895 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 3445557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000064265] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]
AlphaFold P59644
Predicted Effect probably null
Transcript: ENSMUST00000044507
SMART Domains Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
low complexity region 180 216 N/A INTRINSIC
low complexity region 292 311 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 390 413 N/A INTRINSIC
IPPc 418 733 4.41e-98 SMART
low complexity region 840 862 N/A INTRINSIC
low complexity region 868 887 N/A INTRINSIC
low complexity region 898 919 N/A INTRINSIC
low complexity region 924 943 N/A INTRINSIC
low complexity region 992 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000044682
SMART Domains Protein: ENSMUSP00000041571
Gene: ENSMUSG00000034579

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 139 259 1.58e-2 SMART
low complexity region 305 324 N/A INTRINSIC
Pfam:Phospholip_A2_2 343 431 4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064265
SMART Domains Protein: ENSMUSP00000068699
Gene: ENSMUSG00000034579

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 139 259 1.58e-2 SMART
low complexity region 305 324 N/A INTRINSIC
Pfam:Phospholip_A2_2 343 426 5.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110018
SMART Domains Protein: ENSMUSP00000105645
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
IPPc 2 301 4e-86 SMART
low complexity region 408 430 N/A INTRINSIC
low complexity region 436 455 N/A INTRINSIC
low complexity region 466 487 N/A INTRINSIC
low complexity region 492 511 N/A INTRINSIC
low complexity region 560 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110019
SMART Domains Protein: ENSMUSP00000105646
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
IPPc 2 301 4e-86 SMART
low complexity region 408 430 N/A INTRINSIC
low complexity region 436 455 N/A INTRINSIC
low complexity region 466 487 N/A INTRINSIC
low complexity region 492 511 N/A INTRINSIC
low complexity region 560 570 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000148939
Predicted Effect probably benign
Transcript: ENSMUST00000154756
SMART Domains Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
low complexity region 180 216 N/A INTRINSIC
low complexity region 292 311 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 390 413 N/A INTRINSIC
IPPc 418 733 4.41e-98 SMART
low complexity region 870 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183684
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (45/45)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 A G 18: 12,394,046 (GRCm39) V256A probably benign Het
Arid4a A G 12: 71,110,076 (GRCm39) D139G probably benign Het
AU040320 T C 4: 126,685,723 (GRCm39) W100R probably damaging Het
C4bp T C 1: 130,563,943 (GRCm39) *470W probably null Het
Capn8 C A 1: 182,456,234 (GRCm39) D661E possibly damaging Het
Car14 T C 3: 95,805,472 (GRCm39) T334A probably benign Het
Cfhr4 G A 1: 139,668,210 (GRCm39) P308S possibly damaging Het
Chd6 T A 2: 160,830,260 (GRCm39) T1012S probably damaging Het
Csmd3 T C 15: 47,529,910 (GRCm39) probably null Het
Dnaaf2 A G 12: 69,244,437 (GRCm39) V208A probably benign Het
Dnah11 A G 12: 117,958,926 (GRCm39) W2986R probably damaging Het
Epb42 G A 2: 120,867,104 (GRCm39) probably benign Het
Fam120a A G 13: 49,045,497 (GRCm39) F780L probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Grid2 T C 6: 64,372,283 (GRCm39) F655S probably damaging Het
Homer3 T C 8: 70,737,955 (GRCm39) S2P probably damaging Het
Hydin T C 8: 111,038,883 (GRCm39) V207A probably benign Het
Jak1 C T 4: 101,011,734 (GRCm39) probably null Het
Jmjd1c A G 10: 67,052,869 (GRCm39) I220V probably benign Het
Kat6a T G 8: 23,425,799 (GRCm39) S1115A possibly damaging Het
Larp4 T G 15: 99,905,611 (GRCm39) probably null Het
Lrrc72 T G 12: 36,259,717 (GRCm39) D43A probably damaging Het
Mptx2 A C 1: 173,105,252 (GRCm39) V13G probably benign Het
Nmbr A T 10: 14,645,704 (GRCm39) *258Y probably null Het
Nup210l C T 3: 90,067,231 (GRCm39) A757V probably damaging Het
Nup62 A G 7: 44,479,157 (GRCm39) K391E possibly damaging Het
Nup93 T A 8: 94,970,314 (GRCm39) I71K probably damaging Het
Or14a256 A T 7: 86,265,323 (GRCm39) C177S probably damaging Het
Or8b51 A C 9: 38,569,385 (GRCm39) L101R probably damaging Het
Pik3cg A G 12: 32,254,346 (GRCm39) M547T possibly damaging Het
Ropn1 A T 16: 34,497,668 (GRCm39) I187F possibly damaging Het
Rtp3 T C 9: 110,816,264 (GRCm39) R96G possibly damaging Het
Sfrp5 A T 19: 42,188,227 (GRCm39) S197R probably damaging Het
Slc12a6 A G 2: 112,185,440 (GRCm39) H903R probably damaging Het
Slc26a3 G T 12: 31,513,523 (GRCm39) A482S probably damaging Het
Slc2a12 G T 10: 22,568,084 (GRCm39) A504S probably damaging Het
Slitrk5 C A 14: 111,919,085 (GRCm39) P903Q probably damaging Het
Tas2r123 A T 6: 132,824,133 (GRCm39) H10L probably benign Het
Tex46 T C 4: 136,340,212 (GRCm39) V99A probably benign Het
Top2b T C 14: 16,413,604 (GRCm38) V1024A probably benign Het
Ugt2b36 G A 5: 87,240,157 (GRCm39) T76I probably benign Het
Usp31 G T 7: 121,252,399 (GRCm39) T747K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Other mutations in Inpp5j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Inpp5j APN 11 3,450,009 (GRCm39) splice site probably benign
IGL00435:Inpp5j APN 11 3,452,255 (GRCm39) missense probably benign 0.00
IGL00509:Inpp5j APN 11 3,451,595 (GRCm39) missense possibly damaging 0.94
IGL00916:Inpp5j APN 11 3,452,389 (GRCm39) missense probably damaging 1.00
IGL00975:Inpp5j APN 11 3,452,176 (GRCm39) missense probably damaging 1.00
IGL01523:Inpp5j APN 11 3,445,932 (GRCm39) splice site probably null
IGL02472:Inpp5j APN 11 3,445,338 (GRCm39) unclassified probably benign
IGL02512:Inpp5j APN 11 3,449,661 (GRCm39) missense probably damaging 1.00
IGL02897:Inpp5j APN 11 3,450,619 (GRCm39) missense probably damaging 1.00
IGL03408:Inpp5j APN 11 3,452,809 (GRCm39) missense possibly damaging 0.95
R0048:Inpp5j UTSW 11 3,451,417 (GRCm39) missense probably damaging 0.97
R0440:Inpp5j UTSW 11 3,451,150 (GRCm39) missense possibly damaging 0.95
R0455:Inpp5j UTSW 11 3,453,122 (GRCm39) missense possibly damaging 0.66
R0483:Inpp5j UTSW 11 3,449,738 (GRCm39) missense probably damaging 1.00
R0554:Inpp5j UTSW 11 3,449,644 (GRCm39) missense probably damaging 1.00
R0639:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.29
R0673:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.29
R0926:Inpp5j UTSW 11 3,451,439 (GRCm39) splice site probably benign
R1114:Inpp5j UTSW 11 3,444,814 (GRCm39) missense possibly damaging 0.57
R1132:Inpp5j UTSW 11 3,452,305 (GRCm39) missense possibly damaging 0.90
R1463:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.03
R1757:Inpp5j UTSW 11 3,454,738 (GRCm39) missense possibly damaging 0.49
R1978:Inpp5j UTSW 11 3,452,150 (GRCm39) missense probably damaging 1.00
R3078:Inpp5j UTSW 11 3,453,124 (GRCm39) splice site probably null
R3831:Inpp5j UTSW 11 3,450,229 (GRCm39) missense probably damaging 1.00
R4012:Inpp5j UTSW 11 3,450,185 (GRCm39) missense probably benign 0.06
R4183:Inpp5j UTSW 11 3,451,134 (GRCm39) missense probably damaging 0.99
R4209:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4210:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4211:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4477:Inpp5j UTSW 11 3,451,625 (GRCm39) missense probably damaging 1.00
R4729:Inpp5j UTSW 11 3,445,025 (GRCm39) missense probably damaging 0.99
R4840:Inpp5j UTSW 11 3,449,676 (GRCm39) missense probably damaging 1.00
R5025:Inpp5j UTSW 11 3,450,664 (GRCm39) missense probably damaging 1.00
R5151:Inpp5j UTSW 11 3,452,270 (GRCm39) missense probably damaging 1.00
R5195:Inpp5j UTSW 11 3,449,889 (GRCm39) critical splice donor site probably null
R5623:Inpp5j UTSW 11 3,444,766 (GRCm39) missense probably damaging 0.96
R6262:Inpp5j UTSW 11 3,452,615 (GRCm39) missense probably benign 0.02
R6448:Inpp5j UTSW 11 3,445,387 (GRCm39) missense probably damaging 0.99
R6465:Inpp5j UTSW 11 3,452,293 (GRCm39) missense possibly damaging 0.84
R6723:Inpp5j UTSW 11 3,450,640 (GRCm39) missense probably damaging 0.99
R7060:Inpp5j UTSW 11 3,450,133 (GRCm39) splice site probably null
R7346:Inpp5j UTSW 11 3,451,065 (GRCm39) missense probably damaging 1.00
R8026:Inpp5j UTSW 11 3,445,171 (GRCm39) missense
R8360:Inpp5j UTSW 11 3,449,767 (GRCm39) missense probably damaging 0.99
R9706:Inpp5j UTSW 11 3,449,960 (GRCm39) missense possibly damaging 0.95
T0975:Inpp5j UTSW 11 3,452,527 (GRCm39) missense possibly damaging 0.69
Z1176:Inpp5j UTSW 11 3,452,484 (GRCm39) nonsense probably null
Z1177:Inpp5j UTSW 11 3,452,191 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGTGGTGGCTATAGTAACCC -3'
(R):5'- TACCGGGTAAGACTCTGCAG -3'

Sequencing Primer
(F):5'- TAGTAACCCAGAATGAAGTCTCCGTG -3'
(R):5'- CTCTGCAGGAAGGAAGTCACTCTG -3'
Posted On 2018-11-06