Incidental Mutation 'R1719:Inpp4a'
ID 191240
Institutional Source Beutler Lab
Gene Symbol Inpp4a
Ensembl Gene ENSMUSG00000026113
Gene Name inositol polyphosphate-4-phosphatase, type I
Synonyms 107kDa
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1719 (G1)
Quality Score 155
Status Not validated
Chromosome 1
Chromosomal Location 37338946-37449817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37437880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 223 (S223C)
Ref Sequence ENSEMBL: ENSMUSP00000142118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027287] [ENSMUST00000058307] [ENSMUST00000114933] [ENSMUST00000132401] [ENSMUST00000132615] [ENSMUST00000136846] [ENSMUST00000137266] [ENSMUST00000140264] [ENSMUST00000193774] [ENSMUST00000168546]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027287
AA Change: S856C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: S856C

DomainStartEndE-ValueType
Blast:C2 49 142 1e-57 BLAST
SCOP:d1bdya_ 50 168 7e-5 SMART
low complexity region 565 590 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058307
AA Change: S580C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: S580C

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114933
AA Change: S591C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: S591C

DomainStartEndE-ValueType
low complexity region 300 325 N/A INTRINSIC
transmembrane domain 662 684 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000132401
AA Change: S889C

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: S889C

DomainStartEndE-ValueType
Blast:C2 49 142 1e-57 BLAST
SCOP:d1bdya_ 50 168 6e-5 SMART
low complexity region 602 623 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132615
AA Change: S855C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: S855C

DomainStartEndE-ValueType
Blast:C2 49 142 1e-57 BLAST
SCOP:d1bdya_ 50 168 7e-5 SMART
low complexity region 565 590 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136846
AA Change: S855C

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: S855C

DomainStartEndE-ValueType
Blast:C2 49 142 9e-58 BLAST
SCOP:d1bdya_ 50 168 7e-5 SMART
low complexity region 559 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137266
AA Change: S894C

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: S894C

DomainStartEndE-ValueType
Blast:C2 49 142 1e-57 BLAST
SCOP:d1bdya_ 50 168 6e-5 SMART
low complexity region 377 391 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000140264
AA Change: S850C

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: S850C

DomainStartEndE-ValueType
Blast:C2 49 142 7e-58 BLAST
SCOP:d1bdya_ 50 168 7e-5 SMART
low complexity region 377 391 N/A INTRINSIC
low complexity region 564 589 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193774
AA Change: S223C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
AA Change: S223C

DomainStartEndE-ValueType
Blast:C2 45 87 7e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000168546
AA Change: S580C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: S580C

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A T 19: 31,904,526 (GRCm39) K263M probably damaging Het
Adam26a G A 8: 44,023,073 (GRCm39) T139M possibly damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap9 C T 5: 4,007,645 (GRCm39) Q238* probably null Het
Ankrd6 A T 4: 32,828,774 (GRCm39) V85E probably damaging Het
Ap2b1 C A 11: 83,215,430 (GRCm39) P125T probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Cblc A T 7: 19,524,399 (GRCm39) D280E probably benign Het
Cdk11b T C 4: 155,732,854 (GRCm39) probably benign Het
Cela2a G T 4: 141,545,257 (GRCm39) F239L probably damaging Het
Cfap57 A T 4: 118,463,828 (GRCm39) C342S probably benign Het
Clca4a C A 3: 144,669,516 (GRCm39) W345L probably damaging Het
Col6a5 T C 9: 105,808,492 (GRCm39) D852G unknown Het
Cyp4a32 T C 4: 115,468,505 (GRCm39) V329A possibly damaging Het
Dcaf8 C T 1: 172,003,062 (GRCm39) P287S probably damaging Het
Dmxl1 T A 18: 50,067,704 (GRCm39) D2654E probably damaging Het
Dpep1 A T 8: 123,927,486 (GRCm39) I347F possibly damaging Het
Dtnb T A 12: 3,693,936 (GRCm39) Y56* probably null Het
Duox1 T C 2: 122,169,125 (GRCm39) Y1182H possibly damaging Het
Dusp10 T A 1: 183,769,422 (GRCm39) S129R probably benign Het
Dync2i1 T C 12: 116,219,532 (GRCm39) I137V probably benign Het
Epcam G A 17: 87,949,556 (GRCm39) R173Q probably damaging Het
Ephb3 A G 16: 21,039,400 (GRCm39) E384G probably damaging Het
Exosc10 A T 4: 148,652,960 (GRCm39) D525V probably damaging Het
Fam186a T A 15: 99,840,227 (GRCm39) T2006S possibly damaging Het
Fbxw21 T A 9: 108,977,242 (GRCm39) T156S possibly damaging Het
Fcrl5 A G 3: 87,364,704 (GRCm39) E568G probably damaging Het
Fmn2 C T 1: 174,436,024 (GRCm39) probably benign Het
Fut9 A G 4: 25,619,744 (GRCm39) F357L possibly damaging Het
Garre1 A T 7: 33,947,631 (GRCm39) M459K probably damaging Het
Gas2l1 G A 11: 5,014,266 (GRCm39) H65Y probably damaging Het
Gjd2 A T 2: 113,843,614 (GRCm39) M1K probably null Het
Hdgfl3 T C 7: 81,549,432 (GRCm39) Y149C probably damaging Het
Hmcn2 T C 2: 31,244,733 (GRCm39) V730A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Knl1 T A 2: 118,902,219 (GRCm39) W1307R probably benign Het
Kpna3 A G 14: 61,624,926 (GRCm39) L139P probably damaging Het
Lama3 T C 18: 12,612,929 (GRCm39) probably null Het
Lin54 G A 5: 100,633,108 (GRCm39) P192L possibly damaging Het
Lpo T A 11: 87,700,018 (GRCm39) probably null Het
Lrrc37 T A 11: 103,507,897 (GRCm39) probably benign Het
Lrrd1 T G 5: 3,900,483 (GRCm39) probably null Het
Nbas T A 12: 13,610,978 (GRCm39) probably null Het
Nemp1 G A 10: 127,532,117 (GRCm39) G341D probably damaging Het
Nrp1 T C 8: 129,152,366 (GRCm39) F192L probably damaging Het
Nufip2 T A 11: 77,583,916 (GRCm39) V610E probably damaging Het
Nup160 T G 2: 90,530,780 (GRCm39) Y479* probably null Het
Oas1d A T 5: 121,058,025 (GRCm39) D323V possibly damaging Het
Or10ak14 A G 4: 118,610,797 (GRCm39) W315R possibly damaging Het
Or14j1 A G 17: 38,146,244 (GRCm39) D118G possibly damaging Het
Or4c3d T C 2: 89,882,128 (GRCm39) Y180C probably damaging Het
Or52e4 C A 7: 104,706,001 (GRCm39) H183N probably damaging Het
Or5ac22 T A 16: 59,135,069 (GRCm39) R234* probably null Het
Or8b3 G A 9: 38,314,550 (GRCm39) V127M possibly damaging Het
Or8c9 A T 9: 38,241,803 (GRCm39) T307S probably benign Het
Pcm1 T A 8: 41,766,396 (GRCm39) M1567K possibly damaging Het
Pdxk A G 10: 78,279,730 (GRCm39) V215A probably benign Het
Phf12 T A 11: 77,914,427 (GRCm39) L74Q probably damaging Het
Plcg1 A G 2: 160,595,663 (GRCm39) E537G probably null Het
Plxna2 C T 1: 194,326,678 (GRCm39) P204L possibly damaging Het
Ppp3cb T G 14: 20,574,131 (GRCm39) M236L probably benign Het
Qrsl1 A T 10: 43,772,026 (GRCm39) S55T probably damaging Het
Rbm5 T C 9: 107,621,112 (GRCm39) probably null Het
Sipa1l2 A G 8: 126,171,274 (GRCm39) S1403P probably damaging Het
Sis C T 3: 72,872,937 (GRCm39) C67Y probably damaging Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Speg G A 1: 75,394,507 (GRCm39) E1739K probably benign Het
Sprtn C A 8: 125,628,372 (GRCm39) H154Q probably damaging Het
St7l A G 3: 104,778,303 (GRCm39) T147A probably benign Het
Stab1 G A 14: 30,867,985 (GRCm39) Q1630* probably null Het
Stpg2 A G 3: 138,937,960 (GRCm39) D173G probably benign Het
Tcf20 G A 15: 82,736,978 (GRCm39) T1491I probably benign Het
Themis2 A T 4: 132,516,960 (GRCm39) I180N possibly damaging Het
Timd5 T C 11: 46,417,121 (GRCm39) L13P probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,638,340 (GRCm39) V13980A probably damaging Het
Ttn C T 2: 76,575,978 (GRCm39) V24972M probably damaging Het
Usp5 A T 6: 124,800,423 (GRCm39) M286K possibly damaging Het
Vmn2r22 G A 6: 123,614,802 (GRCm39) R263C possibly damaging Het
Vmn2r71 T G 7: 85,270,435 (GRCm39) C534G probably damaging Het
Wnk2 C T 13: 49,214,202 (GRCm39) S1460N possibly damaging Het
Zfp445 G A 9: 122,681,707 (GRCm39) P745S probably damaging Het
Zfp957 C T 14: 79,451,436 (GRCm39) G121D probably damaging Het
Zscan4f A G 7: 11,135,254 (GRCm39) E220G possibly damaging Het
Other mutations in Inpp4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Inpp4a APN 1 37,427,986 (GRCm39) missense probably damaging 1.00
IGL01821:Inpp4a APN 1 37,416,798 (GRCm39) missense probably damaging 1.00
IGL02015:Inpp4a APN 1 37,428,793 (GRCm39) missense probably damaging 1.00
IGL02036:Inpp4a APN 1 37,416,650 (GRCm39) intron probably benign
IGL02040:Inpp4a APN 1 37,435,166 (GRCm39) missense probably damaging 0.99
IGL02082:Inpp4a APN 1 37,405,708 (GRCm39) intron probably benign
IGL02318:Inpp4a APN 1 37,407,384 (GRCm39) missense probably damaging 1.00
IGL02555:Inpp4a APN 1 37,419,049 (GRCm39) missense possibly damaging 0.70
IGL02622:Inpp4a APN 1 37,418,115 (GRCm39) missense probably benign 0.26
stultified UTSW 1 37,426,911 (GRCm39) missense probably damaging 0.99
R0265:Inpp4a UTSW 1 37,418,067 (GRCm39) missense probably damaging 1.00
R0388:Inpp4a UTSW 1 37,435,241 (GRCm39) missense probably damaging 0.96
R0543:Inpp4a UTSW 1 37,408,573 (GRCm39) intron probably benign
R1269:Inpp4a UTSW 1 37,428,823 (GRCm39) missense probably benign 0.01
R1799:Inpp4a UTSW 1 37,432,059 (GRCm39) missense possibly damaging 0.56
R2127:Inpp4a UTSW 1 37,406,000 (GRCm39) missense probably benign 0.08
R2143:Inpp4a UTSW 1 37,426,827 (GRCm39) missense probably damaging 1.00
R2174:Inpp4a UTSW 1 37,435,211 (GRCm39) missense probably damaging 1.00
R2258:Inpp4a UTSW 1 37,416,777 (GRCm39) missense probably damaging 1.00
R2327:Inpp4a UTSW 1 37,405,247 (GRCm39) missense probably damaging 0.96
R2437:Inpp4a UTSW 1 37,432,037 (GRCm39) missense probably damaging 1.00
R2897:Inpp4a UTSW 1 37,405,675 (GRCm39) missense probably benign 0.07
R2898:Inpp4a UTSW 1 37,405,675 (GRCm39) missense probably benign 0.07
R4830:Inpp4a UTSW 1 37,410,861 (GRCm39) missense probably damaging 1.00
R4934:Inpp4a UTSW 1 37,426,922 (GRCm39) missense possibly damaging 0.74
R5141:Inpp4a UTSW 1 37,419,168 (GRCm39) missense probably benign 0.17
R5152:Inpp4a UTSW 1 37,397,616 (GRCm39) missense possibly damaging 0.88
R5627:Inpp4a UTSW 1 37,406,854 (GRCm39) missense probably damaging 0.96
R5789:Inpp4a UTSW 1 37,411,410 (GRCm39) missense possibly damaging 0.75
R6004:Inpp4a UTSW 1 37,411,451 (GRCm39) missense probably damaging 0.99
R6107:Inpp4a UTSW 1 37,416,829 (GRCm39) missense probably damaging 0.98
R6180:Inpp4a UTSW 1 37,419,183 (GRCm39) missense probably benign
R6434:Inpp4a UTSW 1 37,437,919 (GRCm39) missense probably damaging 1.00
R6571:Inpp4a UTSW 1 37,426,839 (GRCm39) missense probably damaging 1.00
R6766:Inpp4a UTSW 1 37,411,422 (GRCm39) missense probably damaging 1.00
R6992:Inpp4a UTSW 1 37,428,772 (GRCm39) missense probably damaging 0.98
R7025:Inpp4a UTSW 1 37,408,504 (GRCm39) missense probably benign 0.00
R7126:Inpp4a UTSW 1 37,413,353 (GRCm39) missense probably benign 0.00
R7473:Inpp4a UTSW 1 37,408,534 (GRCm39) missense probably benign 0.37
R7509:Inpp4a UTSW 1 37,426,911 (GRCm39) missense probably damaging 0.99
R7654:Inpp4a UTSW 1 37,413,179 (GRCm39) splice site probably null
R7920:Inpp4a UTSW 1 37,406,886 (GRCm39) missense probably benign 0.08
R8273:Inpp4a UTSW 1 37,407,520 (GRCm39) intron probably benign
R8739:Inpp4a UTSW 1 37,422,207 (GRCm39) intron probably benign
R9158:Inpp4a UTSW 1 37,442,552 (GRCm39) missense possibly damaging 0.76
R9281:Inpp4a UTSW 1 37,410,850 (GRCm39) missense probably damaging 1.00
R9678:Inpp4a UTSW 1 37,405,952 (GRCm39) missense probably damaging 0.97
RF006:Inpp4a UTSW 1 37,427,908 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- AAGCAGTGATGCCCAAAGGTCTC -3'
(R):5'- TGGTCAAACTCAAGTGTGCTGGAAG -3'

Sequencing Primer
(F):5'- AGGTTCTGATACCATCTCAGCAG -3'
(R):5'- TGCAGTTTACACAGCAAAGG -3'
Posted On 2014-05-14