Incidental Mutation 'BB007:Plcl2'
ID 642441
Institutional Source Beutler Lab
Gene Symbol Plcl2
Ensembl Gene ENSMUSG00000038910
Gene Name phospholipase C-like 2
Synonyms Plce2, PRIP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # BB007
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 50816431-50995512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 50913831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 280 (I280S)
Ref Sequence ENSEMBL: ENSMUSP00000046584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043938]
AlphaFold Q8K394
Predicted Effect probably benign
Transcript: ENSMUST00000043938
AA Change: I280S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: I280S

DomainStartEndE-ValueType
low complexity region 20 49 N/A INTRINSIC
PH 143 254 2.88e-5 SMART
Pfam:EF-hand_like 344 426 3.7e-29 PFAM
PLCXc 427 571 2.19e-84 SMART
PLCYc 619 735 4.37e-61 SMART
C2 756 862 3.45e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null Het
Other mutations in Plcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Plcl2 APN 17 50,913,948 (GRCm39) missense probably benign 0.01
IGL01746:Plcl2 APN 17 50,914,724 (GRCm39) missense probably benign 0.00
IGL02227:Plcl2 APN 17 50,913,425 (GRCm39) missense probably damaging 0.97
IGL02232:Plcl2 APN 17 50,913,669 (GRCm39) missense possibly damaging 0.66
IGL02878:Plcl2 APN 17 50,914,383 (GRCm39) missense probably damaging 1.00
IGL02985:Plcl2 APN 17 50,994,842 (GRCm39) nonsense probably null
acerbic UTSW 17 50,915,141 (GRCm39) missense probably damaging 1.00
Balsamic UTSW 17 50,914,689 (GRCm39) missense probably damaging 1.00
Bastante UTSW 17 50,913,389 (GRCm39) nonsense probably null
italietta UTSW 17 50,915,790 (GRCm39) missense probably damaging 1.00
Oxalic UTSW 17 50,915,127 (GRCm39) missense probably damaging 1.00
Parece UTSW 17 50,914,874 (GRCm39) missense probably damaging 0.99
picolinic UTSW 17 50,975,188 (GRCm39) splice site probably null
ranch UTSW 17 50,816,957 (GRCm39) missense probably benign 0.00
verdad UTSW 17 50,915,109 (GRCm39) missense probably damaging 1.00
vinagrette UTSW 17 50,913,884 (GRCm39) nonsense probably null
BB017:Plcl2 UTSW 17 50,913,831 (GRCm39) missense probably benign
IGL03014:Plcl2 UTSW 17 50,918,029 (GRCm39) missense possibly damaging 0.65
R0110:Plcl2 UTSW 17 50,915,010 (GRCm39) missense probably damaging 1.00
R0190:Plcl2 UTSW 17 50,914,671 (GRCm39) missense probably benign
R0280:Plcl2 UTSW 17 50,914,062 (GRCm39) missense probably damaging 1.00
R0414:Plcl2 UTSW 17 50,914,983 (GRCm39) missense possibly damaging 0.90
R0450:Plcl2 UTSW 17 50,915,010 (GRCm39) missense probably damaging 1.00
R0760:Plcl2 UTSW 17 50,915,802 (GRCm39) missense possibly damaging 0.82
R1134:Plcl2 UTSW 17 50,915,138 (GRCm39) missense probably benign
R1168:Plcl2 UTSW 17 50,914,100 (GRCm39) missense possibly damaging 0.49
R1381:Plcl2 UTSW 17 50,914,757 (GRCm39) missense probably damaging 0.99
R1748:Plcl2 UTSW 17 50,913,826 (GRCm39) missense probably benign
R1856:Plcl2 UTSW 17 50,914,878 (GRCm39) missense probably benign 0.13
R1958:Plcl2 UTSW 17 50,915,109 (GRCm39) missense probably damaging 1.00
R2016:Plcl2 UTSW 17 50,913,722 (GRCm39) missense probably damaging 1.00
R2057:Plcl2 UTSW 17 50,975,139 (GRCm39) splice site probably null
R2077:Plcl2 UTSW 17 50,913,857 (GRCm39) missense probably benign
R2247:Plcl2 UTSW 17 50,913,873 (GRCm39) missense probably damaging 0.96
R3083:Plcl2 UTSW 17 50,994,772 (GRCm39) missense probably benign 0.06
R4153:Plcl2 UTSW 17 50,913,389 (GRCm39) nonsense probably null
R4574:Plcl2 UTSW 17 50,914,874 (GRCm39) missense probably damaging 0.99
R4870:Plcl2 UTSW 17 50,914,254 (GRCm39) missense possibly damaging 0.46
R5030:Plcl2 UTSW 17 50,914,347 (GRCm39) missense possibly damaging 0.92
R5330:Plcl2 UTSW 17 50,816,876 (GRCm39) missense probably benign 0.01
R5331:Plcl2 UTSW 17 50,816,876 (GRCm39) missense probably benign 0.01
R5503:Plcl2 UTSW 17 50,816,957 (GRCm39) missense probably benign 0.00
R5920:Plcl2 UTSW 17 50,915,703 (GRCm39) missense probably damaging 0.99
R6238:Plcl2 UTSW 17 50,913,873 (GRCm39) missense probably damaging 0.96
R6378:Plcl2 UTSW 17 50,975,188 (GRCm39) splice site probably null
R6603:Plcl2 UTSW 17 50,914,145 (GRCm39) missense probably benign 0.03
R6633:Plcl2 UTSW 17 50,947,168 (GRCm39) missense probably benign 0.00
R7113:Plcl2 UTSW 17 50,913,492 (GRCm39) missense probably damaging 1.00
R7466:Plcl2 UTSW 17 50,915,496 (GRCm39) missense probably damaging 1.00
R7665:Plcl2 UTSW 17 50,914,185 (GRCm39) missense probably benign 0.00
R7930:Plcl2 UTSW 17 50,913,831 (GRCm39) missense probably benign
R8114:Plcl2 UTSW 17 50,994,815 (GRCm39) missense probably damaging 0.97
R8152:Plcl2 UTSW 17 50,914,689 (GRCm39) missense probably damaging 1.00
R8208:Plcl2 UTSW 17 50,915,343 (GRCm39) missense probably damaging 1.00
R8853:Plcl2 UTSW 17 50,913,884 (GRCm39) nonsense probably null
R8911:Plcl2 UTSW 17 50,915,141 (GRCm39) missense probably damaging 1.00
R8940:Plcl2 UTSW 17 50,915,790 (GRCm39) missense probably damaging 1.00
R8979:Plcl2 UTSW 17 50,947,145 (GRCm39) missense possibly damaging 0.64
R9127:Plcl2 UTSW 17 50,918,032 (GRCm39) missense probably benign 0.05
R9253:Plcl2 UTSW 17 50,915,127 (GRCm39) missense probably damaging 1.00
R9453:Plcl2 UTSW 17 50,915,391 (GRCm39) missense probably damaging 1.00
R9469:Plcl2 UTSW 17 50,913,953 (GRCm39) missense probably benign 0.05
R9630:Plcl2 UTSW 17 50,947,147 (GRCm39) missense probably benign
X0026:Plcl2 UTSW 17 50,914,588 (GRCm39) missense probably benign 0.03
Z1088:Plcl2 UTSW 17 50,914,020 (GRCm39) missense probably damaging 1.00
Z1176:Plcl2 UTSW 17 50,915,484 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGAGCAGATCTCTGAAGATTGTG -3'
(R):5'- CCCTGTTCTGCCTCAAGAAAC -3'

Sequencing Primer
(F):5'- CTCTGAAGATTGTGCATTTTCAGTC -3'
(R):5'- CTCAAGAAACATCATAAGGTCCTTGG -3'
Posted On 2020-08-01