Incidental Mutation 'R1924:Pik3ap1'
ID 213314
Institutional Source Beutler Lab
Gene Symbol Pik3ap1
Ensembl Gene ENSMUSG00000025017
Gene Name phosphoinositide-3-kinase adaptor protein 1
Synonyms BCAP, 1810044J04Rik
MMRRC Submission 039942-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1924 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41260980-41373541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41291053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 493 (N493I)
Ref Sequence ENSEMBL: ENSMUSP00000052777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059672]
AlphaFold Q9EQ32
Predicted Effect possibly damaging
Transcript: ENSMUST00000059672
AA Change: N493I

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: N493I

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 0.1237 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 94% (63/67)
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
Acacb G A 5: 114,368,781 (GRCm39) M1666I possibly damaging Het
Adamts13 A T 2: 26,874,153 (GRCm39) Q434L probably damaging Het
Adgrg3 G A 8: 95,762,562 (GRCm39) R204H probably benign Het
Arhgef28 A C 13: 98,073,324 (GRCm39) probably benign Het
AU041133 T A 10: 81,987,101 (GRCm39) C251* probably null Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
C4b A G 17: 34,948,631 (GRCm39) C1560R probably damaging Het
Cacna1g A G 11: 94,334,880 (GRCm39) I809T possibly damaging Het
Cacna1s C A 1: 136,016,755 (GRCm39) probably null Het
Cadps2 T C 6: 23,688,857 (GRCm39) S151G probably damaging Het
Capn1 T C 19: 6,040,086 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Ccdc73 A G 2: 104,822,637 (GRCm39) D862G probably damaging Het
Cdk17 T C 10: 93,061,979 (GRCm39) L237P probably damaging Het
Cfap251 A G 5: 123,440,802 (GRCm39) I1120V possibly damaging Het
Chad A C 11: 94,456,384 (GRCm39) N154T possibly damaging Het
Cog1 C T 11: 113,547,038 (GRCm39) T544I probably benign Het
Cracd A T 5: 77,006,470 (GRCm39) T944S unknown Het
Ctnna2 T C 6: 76,931,830 (GRCm39) E590G possibly damaging Het
Dapk2 T A 9: 66,072,642 (GRCm39) M6K probably benign Het
Dchs1 T C 7: 105,421,487 (GRCm39) E311G possibly damaging Het
Ddr2 T A 1: 169,809,641 (GRCm39) T779S probably benign Het
Dhtkd1 A G 2: 5,916,744 (GRCm39) V644A probably damaging Het
Dock2 A G 11: 34,414,934 (GRCm39) V147A possibly damaging Het
Ear10 A T 14: 44,160,357 (GRCm39) *157K probably null Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gmps T G 3: 63,906,049 (GRCm39) C449G probably damaging Het
Grin3a A G 4: 49,844,988 (GRCm39) S32P possibly damaging Het
Igkv1-115 A T 6: 68,138,592 (GRCm39) D65V probably damaging Het
Klk1b4 A G 7: 43,859,105 (GRCm39) N41S probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,145,262 (GRCm39) D25E probably damaging Het
Muc5b A G 7: 141,421,960 (GRCm39) R4426G possibly damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myo5a G T 9: 75,023,489 (GRCm39) D17Y probably damaging Het
Nat1 C G 8: 67,944,076 (GRCm39) L154V probably benign Het
Nek3 T A 8: 22,647,047 (GRCm39) T163S probably damaging Het
Or2w25 G T 11: 59,503,949 (GRCm39) R53L possibly damaging Het
Or5p80 A G 7: 108,229,562 (GRCm39) D121G probably damaging Het
Or6c204 A G 10: 129,023,044 (GRCm39) I82T possibly damaging Het
Or8d2b T A 9: 38,789,147 (GRCm39) I225N probably damaging Het
Or8g32 A T 9: 39,305,163 (GRCm39) E22D possibly damaging Het
Or9s13 T C 1: 92,548,525 (GRCm39) L299P probably damaging Het
Osr1 T G 12: 9,629,268 (GRCm39) L47R probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Rabgap1 T A 2: 37,385,771 (GRCm39) probably null Het
Rp1l1 C A 14: 64,268,992 (GRCm39) A1526E probably benign Het
Scn3a T A 2: 65,291,878 (GRCm39) I1623F probably damaging Het
Serpinb9e A G 13: 33,437,428 (GRCm39) T104A probably benign Het
Sh3rf3 T C 10: 58,939,989 (GRCm39) probably benign Het
Slc30a3 A G 5: 31,245,748 (GRCm39) Y213H probably damaging Het
Sptbn4 C T 7: 27,106,563 (GRCm39) R955H probably damaging Het
Tfb1m A T 17: 3,569,946 (GRCm39) Y307N probably damaging Het
Tnrc6b G T 15: 80,768,407 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ulk1 A G 5: 110,938,936 (GRCm39) Y501H probably damaging Het
Zbtb17 A G 4: 141,191,914 (GRCm39) H315R probably damaging Het
Zeb2 A G 2: 44,892,624 (GRCm39) Y142H probably damaging Het
Zfr T C 15: 12,160,715 (GRCm39) S763P possibly 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
R1779:Pik3ap1 UTSW 19 41,320,673 (GRCm39) missense probably damaging 1.00
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'- TATGGCTCATTGTCAGGCGG -3'
(R):5'- TCTAGTGGTGAGATCGAGGCAAC -3'

Sequencing Primer
(F):5'- CATTGTCAGGCGGTGGGG -3'
(R):5'- CGGTGAAGGAGACCTTGGTCTC -3'
Posted On 2014-07-14