Incidental Mutation 'R2918:Pik3ap1'
ID 255394
Institutional Source Beutler Lab
Gene Symbol Pik3ap1
Ensembl Gene ENSMUSG00000025017
Gene Name phosphoinositide-3-kinase adaptor protein 1
Synonyms BCAP, 1810044J04Rik
MMRRC Submission 040503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2918 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 41260980-41373541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41290970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 521 (T521A)
Ref Sequence ENSEMBL: ENSMUSP00000052777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059672]
AlphaFold Q9EQ32
Predicted Effect probably benign
Transcript: ENSMUST00000059672
AA Change: T521A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: T521A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,989,579 (GRCm39) N401D probably benign Het
Agtpbp1 T A 13: 59,644,829 (GRCm39) D679V possibly damaging Het
Akap8 A G 17: 32,524,622 (GRCm39) V558A probably benign Het
Arrdc2 C T 8: 71,290,171 (GRCm39) R170Q probably benign Het
Atg10 A T 13: 91,189,027 (GRCm39) H94Q probably damaging Het
Atg4a-ps G A 3: 103,552,837 (GRCm39) A168V probably damaging Het
Crb2 G T 2: 37,673,395 (GRCm39) R97L probably benign Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
G6pd2 A G 5: 61,966,869 (GRCm39) R215G probably damaging Het
Hcn3 A G 3: 89,054,920 (GRCm39) S776P probably benign Het
Ift140 C A 17: 25,254,805 (GRCm39) N159K possibly damaging Het
Mafa A G 15: 75,619,147 (GRCm39) S209P probably benign Het
Mug2 A G 6: 122,051,683 (GRCm39) probably null Het
Myh14 T C 7: 44,265,687 (GRCm39) D1564G possibly damaging Het
Ncor2 T A 5: 125,102,824 (GRCm39) I1792F probably damaging Het
Nod2 T C 8: 89,379,519 (GRCm39) F7L probably benign Het
Odad2 G A 18: 7,222,625 (GRCm39) S548L probably benign Het
Or10d5 A G 9: 39,861,660 (GRCm39) S136P probably benign Het
Or1m1 T A 9: 18,666,775 (GRCm39) D52V probably damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Pak3 T C X: 142,547,972 (GRCm39) V318A probably damaging Het
Pkdcc G C 17: 83,523,378 (GRCm39) A162P probably benign Het
Rassf4 A G 6: 116,618,701 (GRCm39) V194A probably damaging Het
Scp2d1 T A 2: 144,665,868 (GRCm39) I69N probably damaging Het
Spg11 A G 2: 121,905,782 (GRCm39) S1288P probably damaging Het
Sptb A G 12: 76,645,532 (GRCm39) S2019P probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpc1 C T 9: 95,605,182 (GRCm39) R159H probably damaging Het
Zbtb14 C T 17: 69,695,214 (GRCm39) P304L 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
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
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'- TGGCTGGCAACCATCCAAAAG -3'
(R):5'- AACATTCGCTCGGTCTTACC -3'

Sequencing Primer
(F):5'- GATGTTCCTGCTGAGGCTCTC -3'
(R):5'- CACCTTCAGGCAGGCAATTTC -3'
Posted On 2014-12-29