Incidental Mutation 'R5353:Pik3r4'
ID 423916
Institutional Source Beutler Lab
Gene Symbol Pik3r4
Ensembl Gene ENSMUSG00000032571
Gene Name phosphoinositide-3-kinase regulatory subunit 4
Synonyms p150, Vps15
MMRRC Submission 042932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5353 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105520177-105564856 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 105545137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000186943] [ENSMUST00000186943] [ENSMUST00000191268] [ENSMUST00000191268]
AlphaFold Q8VD65
Predicted Effect probably null
Transcript: ENSMUST00000065778
SMART Domains Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 26 310 1.7e-5 PFAM
Pfam:Pkinase 26 312 1.2e-18 PFAM
coiled coil region 941 963 N/A INTRINSIC
WD40 982 1021 3.99e-8 SMART
WD40 1031 1070 6.16e0 SMART
WD40 1132 1169 4.58e1 SMART
WD40 1171 1214 1.64e2 SMART
WD40 1228 1269 2.76e-2 SMART
WD40 1317 1358 2.96e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000186943
Predicted Effect probably null
Transcript: ENSMUST00000186943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188385
Predicted Effect probably null
Transcript: ENSMUST00000191268
SMART Domains Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 26 310 8.9e-7 PFAM
Pfam:Pkinase 26 312 3.7e-23 PFAM
coiled coil region 941 963 N/A INTRINSIC
WD40 982 1021 3.99e-8 SMART
WD40 1031 1070 6.16e0 SMART
WD40 1132 1169 4.58e1 SMART
WD40 1171 1214 1.64e2 SMART
WD40 1228 1269 2.76e-2 SMART
WD40 1317 1358 2.96e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000191268
SMART Domains Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 26 310 8.9e-7 PFAM
Pfam:Pkinase 26 312 3.7e-23 PFAM
coiled coil region 941 963 N/A INTRINSIC
WD40 982 1021 3.99e-8 SMART
WD40 1031 1070 6.16e0 SMART
WD40 1132 1169 4.58e1 SMART
WD40 1171 1214 1.64e2 SMART
WD40 1228 1269 2.76e-2 SMART
WD40 1317 1358 2.96e-2 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,934,470 (GRCm39) S649P probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts1 T A 16: 85,599,496 (GRCm39) M35L probably benign Het
Adgrg3 A T 8: 95,762,556 (GRCm39) H202L probably damaging Het
Anln G T 9: 22,271,813 (GRCm39) R681S probably damaging Het
Aprt A T 8: 123,302,147 (GRCm39) M1K probably null Het
Arid3b G T 9: 57,702,320 (GRCm39) probably null Het
Cbl A G 9: 44,084,620 (GRCm39) F172L probably damaging Het
Cd109 G T 9: 78,617,521 (GRCm39) V1340L probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chrm3 A G 13: 9,928,593 (GRCm39) Y148H probably damaging Het
Cog7 A C 7: 121,540,470 (GRCm39) probably null Het
Cpsf1 A T 15: 76,486,771 (GRCm39) I255N probably damaging Het
Crebzf G A 7: 90,092,622 (GRCm39) G134R probably damaging Het
Crybg1 T C 10: 43,849,661 (GRCm39) S1705G probably damaging Het
Dock6 A T 9: 21,726,082 (GRCm39) H1409Q probably benign Het
Fank1 A G 7: 133,478,632 (GRCm39) D232G probably damaging Het
Fat1 G T 8: 45,489,168 (GRCm39) V3480L probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G T 1: 174,330,572 (GRCm39) G321W unknown Het
Greb1 A T 12: 16,738,567 (GRCm39) Y1465* probably null Het
Hdac9 G A 12: 34,443,392 (GRCm39) Q330* probably null Het
Kcnt2 C T 1: 140,354,639 (GRCm39) T298I probably damaging Het
Knl1 A G 2: 118,901,464 (GRCm39) D1055G probably benign Het
Mroh2b T C 15: 4,946,660 (GRCm39) S487P probably damaging Het
Naa38 G A 11: 69,287,408 (GRCm39) V110I probably benign Het
Nkd2 T C 13: 73,969,557 (GRCm39) H303R probably damaging Het
Nr1d2 A G 14: 18,222,125 (GRCm38) C49R probably benign Het
Or4c111 A G 2: 88,844,099 (GRCm39) V103A probably benign Het
Or52b2 A G 7: 104,986,324 (GRCm39) Y200H probably damaging Het
Ovch2 T A 7: 107,393,631 (GRCm39) E165V probably damaging Het
Phyh A T 2: 4,947,012 (GRCm39) probably benign Het
Ppip5k1 A C 2: 121,142,201 (GRCm39) V1416G probably benign Het
Ppm1b T C 17: 85,301,537 (GRCm39) V139A probably benign Het
Ppp1r12a T G 10: 108,097,077 (GRCm39) probably null Het
Pramel20 A G 4: 143,297,807 (GRCm39) T76A probably benign Het
Psmc5 G T 11: 106,152,327 (GRCm39) A115S probably damaging Het
Ptpn5 T A 7: 46,731,642 (GRCm39) E409V probably benign Het
Ptprg T A 14: 11,554,235 (GRCm38) probably benign Het
Qrich1 G T 9: 108,422,164 (GRCm39) V593F probably damaging Het
Rbbp9 T C 2: 144,385,741 (GRCm39) I175V probably benign Het
Selenot T C 3: 58,493,387 (GRCm39) F88S possibly damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spred2 A G 11: 19,968,155 (GRCm39) D208G possibly damaging Het
Surf1 T C 2: 26,804,204 (GRCm39) T197A probably benign Het
Taco1 G A 11: 105,963,539 (GRCm39) probably null Het
Tas2r109 A G 6: 132,957,594 (GRCm39) V112A possibly damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Uggt2 A G 14: 119,319,182 (GRCm39) I280T probably benign Het
Yipf2 A G 9: 21,503,228 (GRCm39) Y80H possibly damaging Het
Zscan12 T C 13: 21,548,178 (GRCm39) V120A possibly damaging Het
Other mutations in Pik3r4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Pik3r4 APN 9 105,521,803 (GRCm39) missense possibly damaging 0.75
IGL01617:Pik3r4 APN 9 105,532,164 (GRCm39) missense probably benign 0.33
IGL01764:Pik3r4 APN 9 105,562,321 (GRCm39) splice site probably benign
IGL01817:Pik3r4 APN 9 105,528,021 (GRCm39) missense probably damaging 1.00
IGL01830:Pik3r4 APN 9 105,522,154 (GRCm39) missense probably damaging 1.00
IGL01905:Pik3r4 APN 9 105,522,077 (GRCm39) nonsense probably null
IGL01947:Pik3r4 APN 9 105,563,349 (GRCm39) missense possibly damaging 0.91
IGL01985:Pik3r4 APN 9 105,540,244 (GRCm39) missense probably benign 0.03
IGL02321:Pik3r4 APN 9 105,521,677 (GRCm39) missense probably benign 0.04
IGL02389:Pik3r4 APN 9 105,527,530 (GRCm39) missense possibly damaging 0.88
IGL02898:Pik3r4 APN 9 105,527,605 (GRCm39) missense probably benign 0.21
IGL03037:Pik3r4 APN 9 105,528,012 (GRCm39) missense probably damaging 1.00
boteh UTSW 9 105,545,137 (GRCm39) splice site probably null
truth UTSW 9 105,527,805 (GRCm39) missense probably damaging 0.98
verisimilitude UTSW 9 105,555,352 (GRCm39) missense probably benign 0.17
IGL02835:Pik3r4 UTSW 9 105,549,905 (GRCm39) missense probably benign 0.07
R0011:Pik3r4 UTSW 9 105,521,836 (GRCm39) missense probably benign 0.01
R0312:Pik3r4 UTSW 9 105,563,409 (GRCm39) missense probably damaging 1.00
R0321:Pik3r4 UTSW 9 105,525,906 (GRCm39) missense probably damaging 1.00
R0482:Pik3r4 UTSW 9 105,546,244 (GRCm39) missense probably benign 0.04
R0645:Pik3r4 UTSW 9 105,546,386 (GRCm39) splice site probably benign
R0690:Pik3r4 UTSW 9 105,531,175 (GRCm39) missense possibly damaging 0.81
R0789:Pik3r4 UTSW 9 105,562,366 (GRCm39) missense probably benign 0.14
R0894:Pik3r4 UTSW 9 105,544,970 (GRCm39) missense possibly damaging 0.73
R0988:Pik3r4 UTSW 9 105,564,404 (GRCm39) missense probably damaging 0.97
R1123:Pik3r4 UTSW 9 105,540,328 (GRCm39) missense probably benign
R1172:Pik3r4 UTSW 9 105,540,373 (GRCm39) missense probably damaging 1.00
R1174:Pik3r4 UTSW 9 105,540,373 (GRCm39) missense probably damaging 1.00
R1342:Pik3r4 UTSW 9 105,528,100 (GRCm39) critical splice donor site probably null
R1387:Pik3r4 UTSW 9 105,521,490 (GRCm39) missense probably damaging 1.00
R1480:Pik3r4 UTSW 9 105,564,443 (GRCm39) missense probably benign 0.39
R1638:Pik3r4 UTSW 9 105,564,408 (GRCm39) missense probably damaging 1.00
R1643:Pik3r4 UTSW 9 105,564,351 (GRCm39) missense possibly damaging 0.83
R1995:Pik3r4 UTSW 9 105,546,364 (GRCm39) missense probably benign 0.12
R2037:Pik3r4 UTSW 9 105,527,534 (GRCm39) missense probably benign 0.00
R2165:Pik3r4 UTSW 9 105,549,984 (GRCm39) missense probably benign 0.05
R4210:Pik3r4 UTSW 9 105,527,957 (GRCm39) missense possibly damaging 0.57
R4515:Pik3r4 UTSW 9 105,549,924 (GRCm39) missense probably damaging 1.00
R4519:Pik3r4 UTSW 9 105,549,924 (GRCm39) missense probably damaging 1.00
R4630:Pik3r4 UTSW 9 105,532,098 (GRCm39) missense probably benign 0.06
R4632:Pik3r4 UTSW 9 105,532,098 (GRCm39) missense probably benign 0.06
R4732:Pik3r4 UTSW 9 105,555,375 (GRCm39) missense possibly damaging 0.56
R4733:Pik3r4 UTSW 9 105,555,375 (GRCm39) missense possibly damaging 0.56
R4940:Pik3r4 UTSW 9 105,546,193 (GRCm39) missense probably benign 0.20
R5120:Pik3r4 UTSW 9 105,546,208 (GRCm39) missense probably benign 0.30
R5169:Pik3r4 UTSW 9 105,555,360 (GRCm39) missense probably benign 0.14
R5183:Pik3r4 UTSW 9 105,559,507 (GRCm39) missense possibly damaging 0.87
R5463:Pik3r4 UTSW 9 105,525,930 (GRCm39) missense probably damaging 1.00
R5635:Pik3r4 UTSW 9 105,545,024 (GRCm39) missense probably benign 0.01
R5763:Pik3r4 UTSW 9 105,546,974 (GRCm39) missense probably benign 0.01
R5830:Pik3r4 UTSW 9 105,522,023 (GRCm39) nonsense probably null
R6251:Pik3r4 UTSW 9 105,531,247 (GRCm39) missense probably benign
R6468:Pik3r4 UTSW 9 105,562,389 (GRCm39) missense possibly damaging 0.86
R6611:Pik3r4 UTSW 9 105,521,476 (GRCm39) missense probably damaging 0.99
R6642:Pik3r4 UTSW 9 105,521,845 (GRCm39) missense probably benign 0.11
R6821:Pik3r4 UTSW 9 105,527,805 (GRCm39) missense probably damaging 0.98
R7039:Pik3r4 UTSW 9 105,554,089 (GRCm39) missense possibly damaging 0.76
R7144:Pik3r4 UTSW 9 105,527,783 (GRCm39) missense probably damaging 0.98
R7410:Pik3r4 UTSW 9 105,527,790 (GRCm39) missense probably damaging 0.99
R7559:Pik3r4 UTSW 9 105,555,352 (GRCm39) missense probably benign 0.17
R7561:Pik3r4 UTSW 9 105,564,446 (GRCm39) missense possibly damaging 0.94
R7658:Pik3r4 UTSW 9 105,521,710 (GRCm39) missense probably damaging 0.98
R7727:Pik3r4 UTSW 9 105,547,081 (GRCm39) missense probably damaging 0.99
R7871:Pik3r4 UTSW 9 105,540,316 (GRCm39) missense probably damaging 1.00
R7957:Pik3r4 UTSW 9 105,564,408 (GRCm39) missense probably damaging 1.00
R8138:Pik3r4 UTSW 9 105,546,234 (GRCm39) missense possibly damaging 0.55
R8686:Pik3r4 UTSW 9 105,535,728 (GRCm39) missense possibly damaging 0.50
R8719:Pik3r4 UTSW 9 105,559,394 (GRCm39) missense probably benign 0.00
R9091:Pik3r4 UTSW 9 105,547,108 (GRCm39) missense probably benign 0.35
R9189:Pik3r4 UTSW 9 105,547,038 (GRCm39) missense probably benign 0.22
R9270:Pik3r4 UTSW 9 105,547,108 (GRCm39) missense probably benign 0.35
R9439:Pik3r4 UTSW 9 105,528,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGGCACTGAAGGACTTC -3'
(R):5'- TTAGGGATTAGAAGACAGCCCC -3'

Sequencing Primer
(F):5'- CTTCATGATGAAATCAAATCGAGCC -3'
(R):5'- CTCAAGAGGCGCATGGTGTAC -3'
Posted On 2016-08-04