Incidental Mutation 'R8026:Inpp5j'
ID 617721
Institutional Source Beutler Lab
Gene Symbol Inpp5j
Ensembl Gene ENSMUSG00000034570
Gene Name inositol polyphosphate 5-phosphatase J
Synonyms Pipp, Pib5pa
MMRRC Submission 067465-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R8026 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3445171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 494 (S494P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000064265] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]
AlphaFold P59644
Predicted Effect probably benign
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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,611,723 (GRCm39) V513A probably damaging Het
Acsf2 C T 11: 94,453,714 (GRCm39) V416M probably damaging Het
Adrm1 G A 2: 179,817,002 (GRCm39) A225T unknown Het
Aldh9a1 T C 1: 167,180,236 (GRCm39) probably null Het
Apbb2 T C 5: 66,608,987 (GRCm39) D220G probably benign Het
Bace2 T C 16: 97,238,052 (GRCm39) V501A probably benign Het
Camsap1 T C 2: 25,828,214 (GRCm39) N1170S probably benign Het
Casr A G 16: 36,315,979 (GRCm39) V697A probably damaging Het
Clcn1 T C 6: 42,284,595 (GRCm39) probably null Het
Cobl T C 11: 12,203,459 (GRCm39) K1081R probably benign Het
Ctr9 T A 7: 110,633,099 (GRCm39) L116I probably damaging Het
Dennd4a T C 9: 64,780,312 (GRCm39) F616S probably damaging Het
Dynlt1a C T 17: 6,362,089 (GRCm39) G30S possibly damaging Het
Eif1 T C 11: 100,211,274 (GRCm39) S23P possibly damaging Het
Eml6 A C 11: 29,699,973 (GRCm39) L1721R possibly damaging Het
Fscb A G 12: 64,521,049 (GRCm39) I139T probably benign Het
Fstl4 A G 11: 52,959,496 (GRCm39) E179G probably damaging Het
Fuom T C 7: 139,680,067 (GRCm39) T95A Het
Gigyf1 C T 5: 137,523,740 (GRCm39) H1001Y probably damaging Het
Gm21886 T A 18: 80,132,961 (GRCm39) S66C probably damaging Het
Helz2 G A 2: 180,881,998 (GRCm39) T265I probably benign Het
Hs6st3 G T 14: 120,106,968 (GRCm39) V459F probably damaging Het
Ido2 A G 8: 25,025,156 (GRCm39) probably null Het
Idua A G 5: 108,818,115 (GRCm39) I96V probably benign Het
Iftap A T 2: 101,400,989 (GRCm39) probably benign Het
Krt19 A G 11: 100,032,209 (GRCm39) V285A probably damaging Het
Krt71 T G 15: 101,646,817 (GRCm39) D297A possibly damaging Het
L3hypdh G A 12: 72,131,723 (GRCm39) R70C probably damaging Het
Masp1 T C 16: 23,303,156 (GRCm39) Y324C probably damaging Het
Mfap2 A G 4: 140,741,114 (GRCm39) D25G possibly damaging Het
Mmp17 G A 5: 129,672,148 (GRCm39) probably null Het
Mroh7 G A 4: 106,578,634 (GRCm39) P15S probably benign Het
Muc5b T A 7: 141,417,373 (GRCm39) C3440S probably benign Het
Naip5 C A 13: 100,382,406 (GRCm39) S101I probably damaging Het
Neb A T 2: 52,113,060 (GRCm39) Y1066N Het
Nop56 T A 2: 130,119,188 (GRCm39) C38S probably benign Het
Nup214 T A 2: 31,923,362 (GRCm39) L1297Q possibly damaging Het
Oasl2 C A 5: 115,040,329 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,132 (GRCm39) F175L probably damaging Het
Or4c58 T C 2: 89,675,273 (GRCm39) N15D probably benign Het
Or51b4 A G 7: 103,530,904 (GRCm39) V182A possibly damaging Het
Or52a5 T A 7: 103,427,547 (GRCm39) I2F probably benign Het
Or5h24 T C 16: 58,918,731 (GRCm39) H208R unknown Het
Or8g4 T C 9: 39,662,092 (GRCm39) S137P possibly damaging Het
Pacrg C T 17: 10,795,496 (GRCm39) V155I probably benign Het
Patz1 A T 11: 3,257,658 (GRCm39) M96L probably benign Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Ptprr A G 10: 115,884,075 (GRCm39) Y44C probably damaging Het
Rad51ap1 A G 6: 126,911,675 (GRCm39) probably null Het
Raet1e A C 10: 22,057,198 (GRCm39) D174A probably damaging Het
Rhobtb2 T G 14: 70,034,214 (GRCm39) D337A probably benign Het
Sbf2 T C 7: 109,934,594 (GRCm39) K1377E probably damaging Het
Sh3pxd2b A G 11: 32,361,567 (GRCm39) K260E probably damaging Het
Slc4a8 A T 15: 100,685,170 (GRCm39) I234F possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tbxas1 C T 6: 39,004,830 (GRCm39) T359I probably benign Het
Trim9 T A 12: 70,337,161 (GRCm39) S309C probably benign Het
Ttn G A 2: 76,659,483 (GRCm39) P12191S unknown Het
Unc80 A G 1: 66,522,463 (GRCm39) R222G possibly damaging Het
Vmn1r202 A T 13: 22,686,314 (GRCm39) H34Q possibly damaging Het
Vmn2r61 T A 7: 41,916,141 (GRCm39) N251K probably benign Het
Vmn2r67 A T 7: 84,785,924 (GRCm39) Y694N probably damaging Het
Vwde A G 6: 13,205,782 (GRCm39) F255S probably benign Het
Zfp532 T G 18: 65,758,227 (GRCm39) I720R possibly damaging Het
Zfp819 A G 7: 43,267,319 (GRCm39) T601A probably benign Het
Zfp853 G T 5: 143,274,280 (GRCm39) Q462K unknown 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
R6895:Inpp5j UTSW 11 3,445,557 (GRCm39) splice site probably null
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
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'- TCGGCTGCTACTACTGTGAC -3'
(R):5'- TCAGACGATAGGGCCAAAGC -3'

Sequencing Primer
(F):5'- GCTGCTACTACTGTGACCCCTG -3'
(R):5'- CAGGCCAAGATGTCCCAGTC -3'
Posted On 2020-01-23