Incidental Mutation 'R1779:Pik3ap1'
ID 197408
Institutional Source Beutler Lab
Gene Symbol Pik3ap1
Ensembl Gene ENSMUSG00000025017
Gene Name phosphoinositide-3-kinase adaptor protein 1
Synonyms BCAP, 1810044J04Rik
MMRRC Submission 039810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41260980-41373541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41320673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 182 (V182E)
Ref Sequence ENSEMBL: ENSMUSP00000052777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059672]
AlphaFold Q9EQ32
Predicted Effect probably damaging
Transcript: ENSMUST00000059672
AA Change: V182E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: V182E

DomainStartEndE-ValueType
DBB 180 319 8.55e-75 SMART
SCOP:d1bd8__ 331 396 8e-5 SMART
Blast:ANK 336 365 1e-7 BLAST
low complexity region 533 552 N/A INTRINSIC
low complexity region 716 740 N/A INTRINSIC
low complexity region 802 808 N/A INTRINSIC
Meta Mutation Damage Score 0.9237 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,200,163 (GRCm39) L476F probably damaging Het
4930432E11Rik A T 7: 29,278,591 (GRCm39) noncoding transcript Het
A930011G23Rik A T 5: 99,370,897 (GRCm39) probably benign Het
Abcd3 A G 3: 121,575,612 (GRCm39) Y217H probably damaging Het
Abraxas1 A T 5: 100,965,822 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,523,346 (GRCm39) Y427C probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam10 T A 9: 70,683,651 (GRCm39) probably benign Het
Adam24 G A 8: 41,134,004 (GRCm39) V491I possibly damaging Het
Adamts2 T G 11: 50,647,524 (GRCm39) V299G probably damaging Het
Adh7 A G 3: 137,929,752 (GRCm39) T143A probably damaging Het
Ahcyl1 A G 3: 107,581,419 (GRCm39) S81P probably benign Het
Arhgap20 C A 9: 51,761,215 (GRCm39) T986K probably benign Het
Atp13a5 A T 16: 29,133,478 (GRCm39) I391N possibly damaging Het
Atp6v0a1 C A 11: 100,917,511 (GRCm39) A143E probably benign Het
Calcrl A G 2: 84,181,629 (GRCm39) I173T probably damaging Het
Casz1 A G 4: 149,017,394 (GRCm39) T228A probably benign Het
Cckar A G 5: 53,857,321 (GRCm39) I292T probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cfhr2 T A 1: 139,786,383 (GRCm39) probably null Het
Chkb T C 15: 89,313,260 (GRCm39) I109V possibly damaging Het
Clec2i T C 6: 128,865,069 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,934 (GRCm39) W216R probably damaging Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cp C A 3: 20,011,549 (GRCm39) D34E possibly damaging Het
Cse1l T C 2: 166,782,044 (GRCm39) probably null Het
Dennd3 T C 15: 73,394,357 (GRCm39) probably null Het
Dnah7a A G 1: 53,616,382 (GRCm39) V1193A probably benign Het
Eaf2 A G 16: 36,630,832 (GRCm39) probably null Het
Efcab3 T A 11: 104,611,765 (GRCm39) S536T probably benign Het
Ephb2 T C 4: 136,421,136 (GRCm39) T405A possibly damaging Het
Fam117a G A 11: 95,269,779 (GRCm39) V348M probably damaging Het
Fh1 T C 1: 175,428,990 (GRCm39) *167W probably null Het
Fmo9 T A 1: 166,490,868 (GRCm39) I486F probably benign Het
Gabbr1 T A 17: 37,365,771 (GRCm39) I150N probably damaging Het
Gfpt1 T C 6: 87,054,179 (GRCm39) V478A possibly damaging Het
Gm2663 A T 6: 40,974,894 (GRCm39) V59E probably damaging Het
Gm4868 T A 5: 125,925,176 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,026,934 (GRCm39) T108S probably benign Het
Hells G T 19: 38,935,286 (GRCm39) A319S probably benign Het
Helz2 A G 2: 180,876,780 (GRCm39) V1238A probably benign Het
Helz2 T A 2: 180,880,252 (GRCm39) Q488L possibly damaging Het
Hkdc1 A G 10: 62,227,162 (GRCm39) F765S probably damaging Het
Hspg2 T A 4: 137,245,820 (GRCm39) W938R probably damaging Het
Itpr2 G A 6: 146,060,399 (GRCm39) R2473* probably null Het
Kctd1 C T 18: 15,194,839 (GRCm39) V595I probably benign Het
Krt7 A G 15: 101,321,290 (GRCm39) Y369C probably damaging Het
Krt72 T C 15: 101,689,364 (GRCm39) T323A probably benign Het
Krt76 A G 15: 101,801,122 (GRCm39) L58P unknown Het
Liph C A 16: 21,786,800 (GRCm39) R272L probably benign Het
Lrrc9 A T 12: 72,502,772 (GRCm39) K248* probably null Het
Mei4 T A 9: 81,809,195 (GRCm39) S93T probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Myo5b A G 18: 74,875,218 (GRCm39) M1541V probably benign Het
Napg A G 18: 63,115,762 (GRCm39) E66G probably benign Het
Npr3 T C 15: 11,851,572 (GRCm39) D406G probably damaging Het
Nr2c2 A G 6: 92,136,224 (GRCm39) T355A possibly damaging Het
Or13j1 G A 4: 43,706,041 (GRCm39) H176Y probably damaging Het
Or4a71 A T 2: 89,357,989 (GRCm39) I255K probably benign Het
Or51m1 G T 7: 103,578,668 (GRCm39) V213L probably benign Het
Or51v8 A G 7: 103,319,845 (GRCm39) I131T probably benign Het
Or52z13 A T 7: 103,247,107 (GRCm39) I195F probably damaging Het
Or5b107 T C 19: 13,142,404 (GRCm39) Y9H probably benign Het
Or8d1 A G 9: 38,766,846 (GRCm39) M163V possibly damaging Het
Orai2 T C 5: 136,179,793 (GRCm39) E80G probably damaging Het
Pcdhb14 T A 18: 37,582,535 (GRCm39) V547E probably damaging Het
Pcdhb15 T C 18: 37,609,084 (GRCm39) I772T possibly damaging Het
Pcnt T C 10: 76,244,630 (GRCm39) Q1150R probably damaging Het
Pdcd6 A G 13: 74,453,700 (GRCm39) I146T probably damaging Het
Phldb2 T A 16: 45,621,988 (GRCm39) D664V probably damaging Het
Pip4k2a A G 2: 18,852,433 (GRCm39) V283A probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Pnpla6 T C 8: 3,591,404 (GRCm39) W1151R probably damaging Het
Ppp1r14c A G 10: 3,316,890 (GRCm39) Y75C probably damaging Het
Prl2b1 C T 13: 27,567,452 (GRCm39) D224N probably benign Het
Ptgis A G 2: 167,056,778 (GRCm39) S270P probably benign Het
Rgs11 C A 17: 26,429,640 (GRCm39) A446D probably damaging Het
Rims2 A G 15: 39,545,098 (GRCm39) T1531A probably damaging Het
Sbno1 A T 5: 124,526,580 (GRCm39) probably benign Het
Scarb2 C G 5: 92,596,416 (GRCm39) M409I probably benign Het
Scube3 C T 17: 28,387,353 (GRCm39) probably benign Het
Slc44a4 T C 17: 35,140,901 (GRCm39) I180T probably damaging Het
Slc9a2 T C 1: 40,781,803 (GRCm39) M344T probably damaging Het
Smc3 A T 19: 53,627,800 (GRCm39) T860S probably benign Het
Snrpa A G 7: 26,891,174 (GRCm39) I99T probably benign Het
Sorcs1 A G 19: 50,163,481 (GRCm39) probably benign Het
Sorl1 C T 9: 41,902,778 (GRCm39) probably null Het
Suds3 T C 5: 117,243,309 (GRCm39) K143R probably benign Het
Supt20 A T 3: 54,622,164 (GRCm39) M424L probably benign Het
Tgtp2 T C 11: 48,949,751 (GRCm39) M274V probably benign Het
Tmem158 T A 9: 123,088,974 (GRCm39) M213L probably benign Het
Tnks C A 8: 35,324,672 (GRCm39) R639L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt10c A C 16: 55,854,938 (GRCm39) N232K possibly damaging Het
Trpm6 C T 19: 18,833,581 (GRCm39) R1587W probably damaging Het
Trrap G A 5: 144,765,400 (GRCm39) V2539I probably benign Het
Tsg101 A G 7: 46,556,835 (GRCm39) S115P probably benign Het
Ttll13 G T 7: 79,910,256 (GRCm39) V800L probably benign Het
Vmn1r57 A G 7: 5,223,576 (GRCm39) T34A possibly damaging Het
Vmn2r118 T A 17: 55,918,530 (GRCm39) T121S probably benign Het
Wdr35 A G 12: 9,035,772 (GRCm39) I238M possibly damaging Het
Zfp81 T A 17: 33,554,080 (GRCm39) T245S probably benign Het
Zfyve26 G T 12: 79,325,237 (GRCm39) P824Q probably damaging Het
Other mutations in Pik3ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Pik3ap1 APN 19 41,364,329 (GRCm39) missense possibly damaging 0.95
IGL01697:Pik3ap1 APN 19 41,313,018 (GRCm39) missense probably damaging 1.00
IGL01743:Pik3ap1 APN 19 41,281,267 (GRCm39) splice site probably benign
IGL02006:Pik3ap1 APN 19 41,291,032 (GRCm39) missense probably benign
IGL02507:Pik3ap1 APN 19 41,270,451 (GRCm39) splice site probably benign
IGL02601:Pik3ap1 APN 19 41,290,881 (GRCm39) missense probably benign 0.08
Canvasback UTSW 19 41,310,069 (GRCm39) missense possibly damaging 0.80
Eiderdown UTSW 19 41,312,924 (GRCm39) splice site silent
Pintail UTSW 19 41,364,585 (GRCm39) missense probably benign 0.00
Scaup UTSW 19 41,320,760 (GRCm39) missense probably damaging 1.00
Scoter UTSW 19 41,310,024 (GRCm39) missense probably damaging 1.00
sooni UTSW 19 41,316,348 (GRCm39) missense probably damaging 1.00
sothe UTSW 19 41,356,683 (GRCm38) intron probably benign
FR4449:Pik3ap1 UTSW 19 41,270,385 (GRCm39) small insertion probably benign
FR4548:Pik3ap1 UTSW 19 41,270,384 (GRCm39) small insertion probably benign
FR4976:Pik3ap1 UTSW 19 41,270,384 (GRCm39) small insertion probably benign
R0504:Pik3ap1 UTSW 19 41,275,929 (GRCm39) missense probably damaging 1.00
R0505:Pik3ap1 UTSW 19 41,313,003 (GRCm39) missense probably damaging 1.00
R0736:Pik3ap1 UTSW 19 41,320,758 (GRCm39) missense possibly damaging 0.56
R0926:Pik3ap1 UTSW 19 41,290,964 (GRCm39) missense probably benign 0.00
R1521:Pik3ap1 UTSW 19 41,309,997 (GRCm39) missense probably damaging 1.00
R1681:Pik3ap1 UTSW 19 41,296,968 (GRCm39) missense probably damaging 1.00
R1924:Pik3ap1 UTSW 19 41,291,053 (GRCm39) missense possibly damaging 0.79
R1945:Pik3ap1 UTSW 19 41,262,776 (GRCm39) missense probably benign
R2327:Pik3ap1 UTSW 19 41,284,828 (GRCm39) missense probably damaging 0.99
R2891:Pik3ap1 UTSW 19 41,364,500 (GRCm39) missense probably benign 0.00
R2892:Pik3ap1 UTSW 19 41,364,500 (GRCm39) missense probably benign 0.00
R2893:Pik3ap1 UTSW 19 41,364,500 (GRCm39) missense probably benign 0.00
R2894:Pik3ap1 UTSW 19 41,364,500 (GRCm39) missense probably benign 0.00
R2918:Pik3ap1 UTSW 19 41,290,970 (GRCm39) missense probably benign 0.00
R4424:Pik3ap1 UTSW 19 41,364,320 (GRCm39) missense probably benign 0.00
R4654:Pik3ap1 UTSW 19 41,316,348 (GRCm39) missense probably damaging 1.00
R4811:Pik3ap1 UTSW 19 41,290,936 (GRCm39) missense possibly damaging 0.67
R4855:Pik3ap1 UTSW 19 41,316,284 (GRCm39) missense probably benign 0.13
R4885:Pik3ap1 UTSW 19 41,364,365 (GRCm39) missense probably benign 0.28
R5119:Pik3ap1 UTSW 19 41,270,415 (GRCm39) missense probably benign 0.18
R5261:Pik3ap1 UTSW 19 41,364,545 (GRCm39) missense probably damaging 1.00
R5274:Pik3ap1 UTSW 19 41,270,391 (GRCm39) missense possibly damaging 0.67
R5655:Pik3ap1 UTSW 19 41,286,680 (GRCm39) missense possibly damaging 0.65
R5862:Pik3ap1 UTSW 19 41,320,784 (GRCm39) missense probably damaging 1.00
R5924:Pik3ap1 UTSW 19 41,284,895 (GRCm39) missense probably damaging 1.00
R6015:Pik3ap1 UTSW 19 41,316,640 (GRCm39) missense probably benign 0.22
R6018:Pik3ap1 UTSW 19 41,373,455 (GRCm39) start gained probably benign
R6515:Pik3ap1 UTSW 19 41,364,585 (GRCm39) missense probably benign 0.00
R6792:Pik3ap1 UTSW 19 41,310,065 (GRCm39) missense probably benign 0.14
R7135:Pik3ap1 UTSW 19 41,320,760 (GRCm39) missense probably damaging 1.00
R7162:Pik3ap1 UTSW 19 41,309,965 (GRCm39) missense probably benign 0.03
R7175:Pik3ap1 UTSW 19 41,275,929 (GRCm39) missense probably damaging 0.98
R7313:Pik3ap1 UTSW 19 41,284,815 (GRCm39) missense possibly damaging 0.93
R7664:Pik3ap1 UTSW 19 41,310,069 (GRCm39) missense possibly damaging 0.80
R7786:Pik3ap1 UTSW 19 41,310,024 (GRCm39) missense probably damaging 1.00
R8375:Pik3ap1 UTSW 19 41,316,538 (GRCm39) missense probably damaging 1.00
R8707:Pik3ap1 UTSW 19 41,313,039 (GRCm39) missense probably damaging 0.99
R8770:Pik3ap1 UTSW 19 41,316,599 (GRCm39) missense possibly damaging 0.88
R9015:Pik3ap1 UTSW 19 41,270,430 (GRCm39) missense probably damaging 1.00
R9100:Pik3ap1 UTSW 19 41,312,924 (GRCm39) splice site silent
R9369:Pik3ap1 UTSW 19 41,317,743 (GRCm39) missense probably damaging 1.00
R9664:Pik3ap1 UTSW 19 41,296,967 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGGCACATACACTCCCAGGTTC -3'
(R):5'- ACTTTAGCGATCCGGTCCCTTCAG -3'

Sequencing Primer
(F):5'- CTTAAAGAAGCTACTCGTGTCCG -3'
(R):5'- AGCTTGCATCTGTGTAGCC -3'
Posted On 2014-05-23