Incidental Mutation 'R1638:Pik3r4'
ID 173315
Institutional Source Beutler Lab
Gene Symbol Pik3r4
Ensembl Gene ENSMUSG00000032571
Gene Name phosphoinositide-3-kinase regulatory subunit 4
Synonyms p150, Vps15
MMRRC Submission 039674-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1638 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105520177-105564856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105564408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1334 (D1334G)
Ref Sequence ENSEMBL: ENSMUSP00000139427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000098441] [ENSMUST00000166431] [ENSMUST00000191268]
AlphaFold Q8VD65
Predicted Effect probably damaging
Transcript: ENSMUST00000065778
AA Change: D1334G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: D1334G

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 benign
Transcript: ENSMUST00000098441
SMART Domains Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 3.3e-9 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166431
SMART Domains Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 9.3e-10 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189691
Predicted Effect probably damaging
Transcript: ENSMUST00000191268
AA Change: D1334G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: D1334G

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 noncoding transcript
Transcript: ENSMUST00000214254
Meta Mutation Damage Score 0.6437 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.8%
Validation Efficiency 99% (79/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Agfg1 A T 1: 82,871,259 (GRCm39) Q497L probably damaging Het
Ahnak A G 19: 8,986,813 (GRCm39) H2699R probably benign Het
Antxrl G T 14: 33,792,453 (GRCm39) probably null Het
Apol7c A T 15: 77,410,418 (GRCm39) V176E probably damaging Het
Arid5b T C 10: 68,113,777 (GRCm39) N87D possibly damaging Het
Atp2c1 A T 9: 105,309,897 (GRCm39) I560N probably damaging Het
Atp2c2 T C 8: 120,482,742 (GRCm39) F868S possibly damaging Het
Blnk G C 19: 40,926,122 (GRCm39) F326L probably benign Het
Bltp1 C T 3: 37,089,961 (GRCm39) R4130* probably null Het
Ckap2 C T 8: 22,665,812 (GRCm39) V412I possibly damaging Het
Clmn A G 12: 104,748,281 (GRCm39) V422A probably benign Het
Ctnnal1 A G 4: 56,813,856 (GRCm39) S638P probably benign Het
Cyp2j5 T C 4: 96,524,052 (GRCm39) S327G probably benign Het
Dhx38 G A 8: 110,280,177 (GRCm39) T871M probably damaging Het
Dmxl1 A T 18: 50,023,834 (GRCm39) K1706* probably null Het
Dnah11 A G 12: 117,979,154 (GRCm39) L2648P possibly damaging Het
Elf2 G A 3: 51,215,530 (GRCm39) T60I probably damaging Het
Fam120b T A 17: 15,622,759 (GRCm39) C246S possibly damaging Het
Fcho2 G T 13: 98,882,403 (GRCm39) T451K possibly damaging Het
Fzd9 T A 5: 135,278,602 (GRCm39) I428F probably damaging Het
Galnt13 T A 2: 54,744,667 (GRCm39) V122E probably damaging Het
Gm21738 T A 14: 19,418,908 (GRCm38) Y8F probably benign Het
Gnptab A G 10: 88,272,029 (GRCm39) I940V possibly damaging Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpr6 A G 10: 40,946,530 (GRCm39) S351P probably benign Het
Gprin1 T C 13: 54,887,689 (GRCm39) E195G possibly damaging Het
Grm8 A T 6: 28,125,882 (GRCm39) Y81* probably null Het
Gtf3c3 A T 1: 54,444,278 (GRCm39) N703K probably damaging Het
Hhipl2 G A 1: 183,208,921 (GRCm39) V495I probably benign Het
Islr G A 9: 58,065,502 (GRCm39) probably benign Het
Lrrc36 T C 8: 106,176,273 (GRCm39) Y216H possibly damaging Het
Macroh2a1 T A 13: 56,252,722 (GRCm39) N87Y probably damaging Het
Me2 A G 18: 73,906,205 (GRCm39) I528T probably benign Het
Mecr A T 4: 131,585,127 (GRCm39) I156F possibly damaging Het
Megf6 A G 4: 154,346,967 (GRCm39) probably benign Het
Mn1 T A 5: 111,569,435 (GRCm39) L1135H probably damaging Het
Naip5 A G 13: 100,349,177 (GRCm39) S1384P probably damaging Het
Nav2 A G 7: 49,102,213 (GRCm39) N337S probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Neb A T 2: 52,139,293 (GRCm39) H3107Q probably benign Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Nsd2 G A 5: 34,039,464 (GRCm39) R825Q possibly damaging Het
Nsun2 A G 13: 69,775,705 (GRCm39) N383S probably damaging Het
Ntrk3 A T 7: 77,897,036 (GRCm39) M667K probably damaging Het
Or10a48 A C 7: 108,424,442 (GRCm39) C255G probably benign Het
Or11h6 G A 14: 50,880,565 (GRCm39) V276M possibly damaging Het
Or1e29 A G 11: 73,667,974 (GRCm39) Y60H possibly damaging Het
Or6c2 A T 10: 129,362,488 (GRCm39) M131L probably benign Het
Pex6 T C 17: 47,033,558 (GRCm39) V633A probably benign Het
Phactr1 C T 13: 43,110,147 (GRCm39) T95M probably damaging Het
Pkhd1l1 A C 15: 44,460,513 (GRCm39) I4241L probably benign Het
Ppwd1 T C 13: 104,356,771 (GRCm39) E248G probably damaging Het
Prepl A C 17: 85,379,509 (GRCm39) M393R probably benign Het
Ptpn6 T C 6: 124,698,148 (GRCm39) S532G probably benign Het
Rnase11 G T 14: 51,287,058 (GRCm39) H165Q possibly damaging Het
Sf1 A G 19: 6,422,090 (GRCm39) N172S possibly damaging Het
Shprh T A 10: 11,032,822 (GRCm39) D269E probably benign Het
Slc16a1 T C 3: 104,556,798 (GRCm39) I61T possibly damaging Het
Slc38a2 A C 15: 96,590,417 (GRCm39) I309S probably damaging Het
Sry C G Y: 2,663,149 (GRCm39) Q170H unknown Het
Stk3 A C 15: 35,008,454 (GRCm39) probably null Het
Tg C A 15: 66,568,015 (GRCm39) C1306* probably null Het
Tnik A G 3: 28,719,889 (GRCm39) M1254V probably damaging Het
U2surp T C 9: 95,366,280 (GRCm39) E474G possibly damaging Het
Vmn1r224 T A 17: 20,639,587 (GRCm39) F55I probably benign Het
Vmn1r32 A G 6: 66,529,939 (GRCm39) I279T possibly damaging Het
Zc2hc1a A G 3: 7,581,543 (GRCm39) D15G probably benign Het
Zfp827 C A 8: 79,802,975 (GRCm39) P516T possibly damaging Het
Zfyve9 A T 4: 108,542,104 (GRCm39) probably null 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
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
R5353:Pik3r4 UTSW 9 105,545,137 (GRCm39) splice site probably null
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'- ATGAGGCGCAGGTTTAACCTCAG -3'
(R):5'- CTGTTCTGTTCCATATGCAGCAAGC -3'

Sequencing Primer
(F):5'- GGCCTTTGTTTTTGACTTCTACC -3'
(R):5'- GGATTTGCTCAGCCATGAAAC -3'
Posted On 2014-04-24