Incidental Mutation 'R7346:Inpp5j'
ID 570210
Institutional Source Beutler Lab
Gene Symbol Inpp5j
Ensembl Gene ENSMUSG00000034570
Gene Name inositol polyphosphate 5-phosphatase J
Synonyms Pipp, Pib5pa
MMRRC Submission 045373-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R7346 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3451065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 528 (T528I)
Ref Sequence ENSEMBL: ENSMUSP00000046625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]
AlphaFold P59644
Predicted Effect probably damaging
Transcript: ENSMUST00000044507
AA Change: T528I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: T528I

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: 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 damaging
Transcript: ENSMUST00000154756
AA Change: T528I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: T528I

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,914,587 (GRCm39) P52S unknown Het
Adarb2 A G 13: 8,620,420 (GRCm39) E302G probably damaging Het
Adgrf5 T A 17: 43,762,070 (GRCm39) L1255H probably damaging Het
Adra1a T A 14: 66,875,733 (GRCm39) I236N probably benign Het
As3mt T C 19: 46,708,891 (GRCm39) F295S probably damaging Het
Bmp5 G A 9: 75,780,642 (GRCm39) R313Q probably damaging Het
Ccnj T A 19: 40,833,394 (GRCm39) S191T probably benign Het
Clk2 T A 3: 89,080,852 (GRCm39) probably null Het
Cpz T C 5: 35,675,000 (GRCm39) E83G probably damaging Het
Cts3 A G 13: 61,715,434 (GRCm39) I133T probably benign Het
Dars2 C T 1: 160,874,342 (GRCm39) probably null Het
Dsel A T 1: 111,788,798 (GRCm39) V579D probably damaging Het
Dync1h1 C A 12: 110,602,076 (GRCm39) A2038E probably damaging Het
Eaf1 A G 14: 31,216,777 (GRCm39) probably benign Het
Fsip2 A C 2: 82,828,524 (GRCm39) I6774L probably benign Het
Glis2 T C 16: 4,431,432 (GRCm39) F320L possibly damaging Het
Hcar1 A G 5: 124,017,693 (GRCm39) probably benign Het
Hectd1 A T 12: 51,797,104 (GRCm39) H2211Q probably benign Het
Hmcn1 A G 1: 150,559,496 (GRCm39) I2385T probably damaging Het
Ifi44 T A 3: 151,438,094 (GRCm39) M398L probably benign Het
Il16 C T 7: 83,293,249 (GRCm39) E1273K probably damaging Het
Kbtbd6 C T 14: 79,690,627 (GRCm39) P441S probably damaging Het
Kcnt1 C T 2: 25,753,855 (GRCm39) probably benign Het
Kif26b T C 1: 178,358,306 (GRCm39) L139P probably damaging Het
Klb C T 5: 65,505,974 (GRCm39) Q74* probably null Het
L3mbtl1 G A 2: 162,808,926 (GRCm39) V600I probably benign Het
Lcp1 C T 14: 75,447,946 (GRCm39) A317V possibly damaging Het
Lipc C T 9: 70,720,029 (GRCm39) G326D probably damaging Het
Mbnl2 T A 14: 120,616,694 (GRCm39) F103I probably benign Het
Mdm1 G T 10: 118,000,193 (GRCm39) E609* probably null Het
Med16 A G 10: 79,744,650 (GRCm39) probably null Het
Mga T C 2: 119,766,008 (GRCm39) V1424A possibly damaging Het
Mocs2 G T 13: 114,964,710 (GRCm39) probably null Het
Morc1 C T 16: 48,451,263 (GRCm39) probably null Het
Mpc2 T A 1: 165,307,080 (GRCm39) W94R probably damaging Het
Mrm3 G A 11: 76,141,002 (GRCm39) V337I possibly damaging Het
N4bp3 T C 11: 51,536,433 (GRCm39) H133R probably benign Het
Ncam2 G T 16: 81,420,256 (GRCm39) G810V probably damaging Het
Nipbl T C 15: 8,373,090 (GRCm39) E1052G possibly damaging Het
Nlrp12 C T 7: 3,297,887 (GRCm39) V95M probably damaging Het
Nrip1 T C 16: 76,090,244 (GRCm39) N438D possibly damaging Het
Nsun4 C A 4: 115,909,035 (GRCm39) M508I probably benign Het
Pla2g2c T C 4: 138,461,650 (GRCm39) S40P probably damaging Het
Plec A G 15: 76,082,178 (GRCm39) probably null Het
Ppfia2 G T 10: 106,693,356 (GRCm39) M620I possibly damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prkd1 A T 12: 50,695,617 (GRCm39) I47N possibly damaging Het
Prr14l T C 5: 32,988,028 (GRCm39) D489G probably benign Het
Ptch2 T A 4: 116,971,849 (GRCm39) Y1124N probably benign Het
Ptpra T G 2: 130,395,320 (GRCm39) Y808D probably damaging Het
Rint1 T A 5: 24,020,651 (GRCm39) F558Y possibly damaging Het
Rnf215 T A 11: 4,089,792 (GRCm39) C268* probably null Het
Slc25a13 T C 6: 6,181,100 (GRCm39) E28G possibly damaging Het
Slc38a8 G T 8: 120,226,554 (GRCm39) Y78* probably null Het
Slc4a7 T C 14: 14,775,000 (GRCm38) M810T probably damaging Het
Slitrk1 A G 14: 109,150,591 (GRCm39) V40A possibly damaging Het
Sobp A T 10: 42,898,831 (GRCm39) S251R probably damaging Het
Spata31d1a G A 13: 59,851,015 (GRCm39) S371L probably benign Het
Tada2b T C 5: 36,634,180 (GRCm39) T133A possibly damaging Het
Tbc1d20 A G 2: 152,146,881 (GRCm39) D90G probably benign Het
Tek T A 4: 94,715,533 (GRCm39) I408K probably benign Het
Tgfb2 A G 1: 186,382,077 (GRCm39) F150S probably benign Het
Tmem63b T C 17: 45,977,517 (GRCm39) T370A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tspan17 C G 13: 54,940,434 (GRCm39) L34V probably benign Het
Vmn1r238 A T 18: 3,123,151 (GRCm39) Y88N probably damaging Het
Vmn1r85 A G 7: 12,818,964 (GRCm39) I60T probably damaging Het
Vmn2r96 T C 17: 18,803,029 (GRCm39) M313T probably benign Het
Zp3r G A 1: 130,511,217 (GRCm39) S387F probably benign 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
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'- TTGACAGGTCATGAGCCTGAC -3'
(R):5'- ACTGCTGGGTGTCCCTATTG -3'

Sequencing Primer
(F):5'- GGCTGGCCACAAGAACTTG -3'
(R):5'- CCTATTGCCAGGGTAGGGAG -3'
Posted On 2019-09-13