Incidental Mutation 'IGL03390:Inpp5a'
ID421026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5a
Ensembl Gene ENSMUSG00000025477
Gene Nameinositol polyphosphate-5-phosphatase A
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03390
Quality Score
Status
Chromosome7
Chromosomal Location139389109-139579652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 139525748 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 213 (V213G)
Ref Sequence ENSEMBL: ENSMUSP00000095589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026550] [ENSMUST00000097975] [ENSMUST00000106098]
Predicted Effect probably benign
Transcript: ENSMUST00000026550
AA Change: V205G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: V205G

DomainStartEndE-ValueType
IPPc 8 400 2.48e-165 SMART
low complexity region 415 422 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097975
AA Change: V213G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: V213G

DomainStartEndE-ValueType
IPPc 25 408 1.84e-150 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106098
AA Change: V205G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: V205G

DomainStartEndE-ValueType
IPPc 8 400 2.48e-165 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152475
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 124,839,825 probably benign Het
Ccdc18 A G 5: 108,212,131 Y1127C probably damaging Het
Cdnf T A 2: 3,523,826 L134* probably null Het
Col11a1 A G 3: 114,090,253 D257G unknown Het
Cthrc1 T A 15: 39,077,134 I44N probably benign Het
Dlec1 T C 9: 119,123,220 Y545H probably benign Het
Drosha T G 15: 12,884,983 probably null Het
Ebf2 A G 14: 67,424,109 N562S probably benign Het
Fem1b G A 9: 62,796,964 A338V probably benign Het
Gga3 A T 11: 115,586,994 probably null Het
Gm7247 A T 14: 51,523,457 H161L probably benign Het
Gm7367 A G 7: 60,155,769 noncoding transcript Het
Kcns3 T C 12: 11,091,232 T489A probably benign Het
Kifc3 G A 8: 95,108,613 A211V probably damaging Het
Krt71 T C 15: 101,734,552 D507G possibly damaging Het
Lama5 T C 2: 180,207,218 Y224C probably damaging Het
Lrrc37a A G 11: 103,496,031 L2421P unknown Het
Mtch2 C T 2: 90,859,550 T205I probably benign Het
Olfr108 T C 17: 37,446,364 V281A probably benign Het
Prkdc T A 16: 15,670,626 C537* probably null Het
Prl2a1 T C 13: 27,801,716 V5A probably benign Het
Prob1 T C 18: 35,654,139 Y354C probably benign Het
Rimklb C T 6: 122,456,321 S347N possibly damaging Het
Rnase2a T C 14: 51,255,488 D140G probably damaging Het
Ryr2 G A 13: 11,772,416 P1017S probably benign Het
Slc3a1 A G 17: 85,032,777 D209G probably damaging Het
Sntn T A 14: 13,682,205 probably benign Het
Tal2 G T 4: 53,785,994 L58F probably damaging Het
Trim39 T C 17: 36,260,571 K432E probably damaging Het
Trmt5 A T 12: 73,282,727 M219K probably benign Het
Vmn2r3 T A 3: 64,275,346 I311L possibly damaging Het
Wfdc17 A T 11: 83,704,785 probably benign Het
Zbtb6 T G 2: 37,429,572 I115L probably damaging Het
Zfp750 A T 11: 121,511,944 C659* probably null Het
Other mutations in Inpp5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Inpp5a APN 7 139516721 missense probably benign 0.00
IGL01354:Inpp5a APN 7 139538234 missense probably damaging 0.99
IGL01734:Inpp5a APN 7 139454090 missense possibly damaging 0.92
IGL02536:Inpp5a APN 7 139567422 missense probably benign 0.17
IGL03023:Inpp5a APN 7 139525786 splice site probably null
Anza UTSW 7 139525738 missense probably damaging 1.00
borrego UTSW 7 139525670 missense probably damaging 1.00
Joshua_tree UTSW 7 139574982 missense probably damaging 1.00
PIT4402001:Inpp5a UTSW 7 139511453 missense probably benign 0.02
R0724:Inpp5a UTSW 7 139516663 missense probably benign 0.08
R0940:Inpp5a UTSW 7 139525738 missense probably damaging 1.00
R1258:Inpp5a UTSW 7 139525744 missense probably damaging 1.00
R2112:Inpp5a UTSW 7 139574961 missense probably damaging 0.99
R2328:Inpp5a UTSW 7 139478094 nonsense probably null
R4223:Inpp5a UTSW 7 139558905 missense possibly damaging 0.72
R4307:Inpp5a UTSW 7 139574963 missense possibly damaging 0.87
R4703:Inpp5a UTSW 7 139558923 missense probably damaging 1.00
R4781:Inpp5a UTSW 7 139478005 missense probably benign 0.11
R4997:Inpp5a UTSW 7 139400738 missense probably benign 0.07
R5762:Inpp5a UTSW 7 139538181 missense possibly damaging 0.95
R6014:Inpp5a UTSW 7 139574982 missense probably damaging 1.00
R6381:Inpp5a UTSW 7 139400673 missense probably benign 0.00
R7255:Inpp5a UTSW 7 139511448 missense probably damaging 0.96
R7324:Inpp5a UTSW 7 139525670 missense probably damaging 1.00
R7362:Inpp5a UTSW 7 139578380 missense probably benign 0.00
R7561:Inpp5a UTSW 7 139567422 missense probably damaging 0.99
R7748:Inpp5a UTSW 7 139574995 missense probably damaging 0.96
R8178:Inpp5a UTSW 7 139538237 missense probably damaging 1.00
R8253:Inpp5a UTSW 7 139481640 missense probably damaging 0.99
R8839:Inpp5a UTSW 7 139389433 missense probably benign 0.07
Z1177:Inpp5a UTSW 7 139525775 missense probably damaging 0.99
Posted On2016-08-02