Incidental Mutation 'R7957:Pik3r4'
ID 649900
Institutional Source Beutler Lab
Gene Symbol Pik3r4
Ensembl Gene ENSMUSG00000032571
Gene Name phosphoinositide-3-kinase regulatory subunit 4
Synonyms p150, Vps15
MMRRC Submission 046001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7957 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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
Abca8a A G 11: 109,982,439 (GRCm39) M1T probably null Het
Abhd2 T A 7: 78,975,194 (GRCm39) M128K probably benign Het
Adamts12 A G 15: 11,317,298 (GRCm39) T1333A possibly damaging Het
Alg8 A G 7: 97,040,131 (GRCm39) T438A probably benign Het
Ccn3 G T 15: 54,609,734 (GRCm39) S78I possibly damaging Het
Cebpa A G 7: 34,819,867 (GRCm39) I342V possibly damaging Het
Chd9 T C 8: 91,778,326 (GRCm39) M2779T probably damaging Het
Cnot3 C A 7: 3,661,221 (GRCm39) P577T probably benign Het
Col17a1 T C 19: 47,649,556 (GRCm39) D755G probably damaging Het
Col5a3 A G 9: 20,685,347 (GRCm39) V1443A unknown Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Fam193a A G 5: 34,619,430 (GRCm39) D1031G probably damaging Het
Fam83b T A 9: 76,399,267 (GRCm39) H612L probably benign Het
Gabrr2 A G 4: 33,081,410 (GRCm39) T149A probably damaging Het
Gm3667 T C 14: 18,269,663 (GRCm39) N156D probably benign Het
Hpcal1 T A 12: 17,841,171 (GRCm39) L183Q probably damaging Het
Ilf2 G T 3: 90,394,777 (GRCm39) E342* probably null Het
Ints13 A G 6: 146,452,264 (GRCm39) S652P probably damaging Het
Kansl2 C A 15: 98,422,499 (GRCm39) E356D probably benign Het
Klhl6 T C 16: 19,768,201 (GRCm39) E448G probably null Het
Mmp14 A G 14: 54,673,707 (GRCm39) I124V probably benign Het
Morc2b A T 17: 33,354,747 (GRCm39) D1008E probably benign Het
Muc16 A C 9: 18,554,767 (GRCm39) V3842G unknown Het
Myo9b A T 8: 71,807,405 (GRCm39) I1614F probably benign Het
Nipa1 A T 7: 55,629,547 (GRCm39) C189S probably damaging Het
Ntn4 T C 10: 93,480,335 (GRCm39) probably benign Het
Or12k5 A G 2: 36,894,972 (GRCm39) I218T probably benign Het
Or2t29 A G 11: 58,433,624 (GRCm39) L239P probably damaging Het
Or3a4 A C 11: 73,944,982 (GRCm39) L201R probably damaging Het
Or4x13 A T 2: 90,231,395 (GRCm39) Y130F probably damaging Het
Or8g17 T G 9: 38,930,349 (GRCm39) I163L probably benign Het
Pank1 T A 19: 34,791,096 (GRCm39) H528L probably damaging Het
Pappa2 A T 1: 158,589,131 (GRCm39) L1698* probably null Het
Park7 A G 4: 150,988,341 (GRCm39) S85P probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rapgef2 T C 3: 79,122,276 (GRCm39) E30G probably benign Het
Rhbdf1 A G 11: 32,160,523 (GRCm39) F676L probably damaging Het
Rsf1 GGC GGCCACGGCAGC 7: 97,229,113 (GRCm39) probably benign Het
Scd4 G T 19: 44,329,687 (GRCm39) M219I probably benign Het
Slfn5 T A 11: 82,847,613 (GRCm39) I166N probably benign Het
Smim22 A T 16: 4,826,089 (GRCm39) D85V probably damaging Het
Socs2 T C 10: 95,250,812 (GRCm39) E7G probably benign Het
Thumpd2 T C 17: 81,334,157 (GRCm39) E477G probably benign Het
Tlr12 C T 4: 128,510,483 (GRCm39) G589D probably benign Het
Ttn A T 2: 76,595,199 (GRCm39) I20317K probably damaging Het
Ttyh2 A G 11: 114,599,690 (GRCm39) probably null Het
Ugt2a3 T A 5: 87,475,050 (GRCm39) D398V probably damaging Het
Vmn2r88 A T 14: 51,650,589 (GRCm39) M101L Het
Vmn2r93 A T 17: 18,545,954 (GRCm39) R609* probably null Het
Zfp473 C T 7: 44,381,916 (GRCm39) E806K probably damaging Het
Zfp93 T C 7: 23,974,999 (GRCm39) L328P probably 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
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
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'- AAACCCAGGTCACTGTGGAC -3'
(R):5'- TCACTTCAAAACCCACGTTTG -3'

Sequencing Primer
(F):5'- AAGGAGGTGTTAACTCCCTAGTC -3'
(R):5'- AACCCACGTTTGTTCTCTAGAAG -3'
Posted On 2020-09-15