Incidental Mutation 'R0926:Pik3ap1'
ID 83231
Institutional Source Beutler Lab
Gene Symbol Pik3ap1
Ensembl Gene ENSMUSG00000025017
Gene Name phosphoinositide-3-kinase adaptor protein 1
Synonyms BCAP, 1810044J04Rik
MMRRC Submission 039073-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0926 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41260980-41373541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41290964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 523 (S523P)
Ref Sequence ENSEMBL: ENSMUSP00000052777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059672]
AlphaFold Q9EQ32
Predicted Effect probably benign
Transcript: ENSMUST00000059672
AA Change: S523P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: S523P

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 0.1373 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,832 (GRCm39) D514G probably damaging Het
Acbd7 A T 2: 3,341,478 (GRCm39) I41F possibly damaging Het
Actr8 G T 14: 29,709,181 (GRCm39) V262L probably benign Het
Anp32e A G 3: 95,844,454 (GRCm39) D108G probably damaging Het
Banp G A 8: 122,747,294 (GRCm39) G448S probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Cd22 C A 7: 30,568,934 (GRCm39) probably null Het
Cfap58 A T 19: 47,951,001 (GRCm39) Q454L probably damaging Het
Cntn4 C T 6: 106,632,542 (GRCm39) T522I probably benign Het
Col11a1 G A 3: 113,883,829 (GRCm39) D233N unknown Het
Csmd1 G T 8: 16,083,590 (GRCm39) probably null Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
D5Ertd579e G T 5: 36,830,210 (GRCm39) P38Q probably damaging Het
Dnal4 T C 15: 79,646,226 (GRCm39) T93A probably benign Het
Dsp A T 13: 38,367,194 (GRCm39) D614V probably damaging Het
Fcgr1 A T 3: 96,199,682 (GRCm39) I75N possibly damaging Het
Fgd6 T A 10: 93,970,909 (GRCm39) Y1229N probably benign Het
Fhip2a G A 19: 57,369,522 (GRCm39) A383T probably damaging Het
Frmpd1 T G 4: 45,268,497 (GRCm39) L214R probably damaging Het
Gapvd1 A T 2: 34,602,337 (GRCm39) D603E probably damaging Het
H2-M9 A G 17: 36,952,665 (GRCm39) V127A probably damaging Het
Herc2 T A 7: 55,782,296 (GRCm39) S1328T possibly damaging Het
Ica1l T C 1: 60,045,456 (GRCm39) N269S probably benign Het
Il18r1 T C 1: 40,526,188 (GRCm39) Y245H probably damaging Het
Il6ra A T 3: 89,794,376 (GRCm39) V195E probably damaging Het
Inpp5j A G 11: 3,451,439 (GRCm39) probably benign Het
Isy1 T C 6: 87,796,125 (GRCm39) T271A probably benign Het
Klra9 T C 6: 130,155,993 (GRCm39) Y254C probably damaging Het
Ly6e T G 15: 74,830,219 (GRCm39) S73A probably damaging Het
Mcmdc2 T A 1: 9,990,801 (GRCm39) L326* probably null Het
Muc4 G A 16: 32,576,570 (GRCm39) probably benign Het
Myh3 A G 11: 66,981,340 (GRCm39) probably null Het
Ndor1 G A 2: 25,138,360 (GRCm39) H409Y probably benign Het
Nwd2 A G 5: 63,965,234 (GRCm39) D1606G probably damaging Het
Or2t44 A G 11: 58,677,935 (GRCm39) N292D probably damaging Het
Or3a1d G A 11: 74,238,132 (GRCm39) R93C probably benign Het
Or4f7 A G 2: 111,644,892 (GRCm39) Y60H probably damaging Het
Or51f1e T C 7: 102,747,092 (GRCm39) L48P probably damaging Het
Or5b99 A T 19: 12,976,554 (GRCm39) D68V probably damaging Het
Or5h18 A G 16: 58,848,051 (GRCm39) I73T possibly damaging Het
Or5l13 A T 2: 87,780,266 (GRCm39) F104I probably damaging Het
Paox C A 7: 139,713,951 (GRCm39) T237K probably damaging Het
Pcmtd1 T A 1: 7,231,243 (GRCm39) L4I probably damaging Het
Pfkl T A 10: 77,836,523 (GRCm39) T165S probably damaging Het
Pitpnm1 A G 19: 4,162,338 (GRCm39) D1056G probably damaging Het
Pitpnm2 G A 5: 124,269,272 (GRCm39) T450I probably benign Het
Pou2f3 T C 9: 43,058,198 (GRCm39) D37G probably damaging Het
Prdm5 A G 6: 65,860,531 (GRCm39) H221R probably damaging Het
Pwp1 T A 10: 85,712,378 (GRCm39) I72N probably damaging Het
Rhou A G 8: 124,387,715 (GRCm39) E149G probably damaging Het
She A G 3: 89,758,901 (GRCm39) probably benign Het
Slc26a9 A C 1: 131,680,954 (GRCm39) H121P probably benign Het
Spag17 A G 3: 99,979,432 (GRCm39) D1431G probably benign Het
Trpm3 A T 19: 22,965,407 (GRCm39) D1634V probably benign Het
Ttn A G 2: 76,627,571 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E possibly damaging Het
Zcrb1 T C 15: 93,289,409 (GRCm39) K51E probably damaging Het
Zfp110 C T 7: 12,583,808 (GRCm39) Q819* probably null Het
Zfp616 A G 11: 73,976,644 (GRCm39) N971S probably benign Het
Zfp827 A T 8: 79,844,821 (GRCm39) T664S probably benign 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
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
R1779:Pik3ap1 UTSW 19 41,320,673 (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'- CAGAGTTCGTGCTGACCTATGACC -3'
(R):5'- ACCACCTTCAGGCAGGCAATTTC -3'

Sequencing Primer
(F):5'- AACCAGGATGTTCCTGCTGAG -3'
(R):5'- GCAGGCAATTTCCCGGAC -3'
Posted On 2013-11-08