Incidental Mutation 'R2174:Inpp4a'
ID 237660
Institutional Source Beutler Lab
Gene Symbol Inpp4a
Ensembl Gene ENSMUSG00000026113
Gene Name inositol polyphosphate-4-phosphatase, type I
Synonyms 107kDa
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 37338946-37449817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37435211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 827 (N827S)
Ref Sequence ENSEMBL: ENSMUSP00000027287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027287] [ENSMUST00000058307] [ENSMUST00000114933] [ENSMUST00000132401] [ENSMUST00000132615] [ENSMUST00000136846] [ENSMUST00000137266] [ENSMUST00000193774] [ENSMUST00000140264] [ENSMUST00000168546]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027287
AA Change: N827S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: N827S

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: ENSMUST00000058307
AA Change: N551S

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: N551S

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114933
AA Change: N562S

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: N562S

DomainStartEndE-ValueType
low complexity region 300 325 N/A INTRINSIC
transmembrane domain 662 684 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132401
AA Change: N860S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: N860S

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: N826S

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: N826S

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: N826S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: N826S

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: N865S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: N865S

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: ENSMUST00000193774
AA Change: N194S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
AA Change: N194S

DomainStartEndE-ValueType
Blast:C2 45 87 7e-13 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000140264
AA Change: N821S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: N821S

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 benign
Transcript: ENSMUST00000168546
AA Change: N551S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: N551S

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Meta Mutation Damage Score 0.1192 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably 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
R1719:Inpp4a UTSW 1 37,437,880 (GRCm39) missense probably damaging 1.00
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
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'- AAATTCAGGGCTCAGATGGC -3'
(R):5'- ATGATGTCCAGTGTCCTCCCAC -3'

Sequencing Primer
(F):5'- GGCTCAGATGGCCATGTCTAAATC -3'
(R):5'- TGCTGAACCTACACAGTGATG -3'
Posted On 2014-10-02