Incidental Mutation 'R8979:Plcl2'
ID 683667
Institutional Source Beutler Lab
Gene Symbol Plcl2
Ensembl Gene ENSMUSG00000038910
Gene Name phospholipase C-like 2
Synonyms Plce2, PRIP-2
MMRRC Submission 068812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R8979 (G1)
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 A at 50947145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1008 (M1008K)
Ref Sequence ENSEMBL: ENSMUSP00000046584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043938]
AlphaFold Q8K394
Predicted Effect possibly damaging
Transcript: ENSMUST00000043938
AA Change: M1008K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: M1008K

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: 99.9%
  • 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,545 (GRCm39) R353S probably damaging Het
Ablim3 C T 18: 61,982,397 (GRCm39) V183I probably benign Het
Adgrb3 T A 1: 25,527,115 (GRCm39) Q607L probably benign Het
Adgrl1 A G 8: 84,665,015 (GRCm39) D1234G probably benign Het
Alms1 A G 6: 85,598,009 (GRCm39) Y945C probably damaging Het
Arhgef26 T A 3: 62,246,969 (GRCm39) W18R possibly damaging Het
Caskin1 G T 17: 24,717,899 (GRCm39) A229S possibly damaging Het
Celsr1 A T 15: 85,847,340 (GRCm39) S1466T probably damaging Het
Cftr T C 6: 18,227,947 (GRCm39) Y380H probably benign Het
Ciapin1 A T 8: 95,549,753 (GRCm39) L301Q probably damaging Het
Clec1b A G 6: 129,380,537 (GRCm39) E151G probably benign Het
Cngb1 G A 8: 96,004,913 (GRCm39) probably benign Het
Cntln T A 4: 85,048,910 (GRCm39) V240E probably damaging Het
Cog5 A G 12: 31,840,894 (GRCm39) T240A probably benign Het
Col5a3 G A 9: 20,686,597 (GRCm39) P1343S unknown Het
Cspp1 T A 1: 10,134,630 (GRCm39) S127T probably benign Het
Dnah9 T G 11: 65,895,978 (GRCm39) M2466L probably benign Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw13 A T 9: 109,013,197 (GRCm39) W247R probably damaging Het
Gbp4 G A 5: 105,267,248 (GRCm39) T557M probably benign Het
Ide G A 19: 37,302,711 (GRCm39) A133V Het
Il2rb C A 15: 78,376,052 (GRCm39) probably benign Het
Itgb1 A G 8: 129,448,951 (GRCm39) E519G probably benign Het
Kifc1 A G 17: 34,102,228 (GRCm39) Y462H possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Llgl1 C T 11: 60,601,129 (GRCm39) A689V probably benign Het
Lrrc37a C A 11: 103,393,833 (GRCm39) V531L possibly damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mid1 G A X: 168,768,009 (GRCm39) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm39) L760F probably benign Het
Mplkipl1 A G 19: 61,164,169 (GRCm39) Y89H probably damaging Het
Mst1r C T 9: 107,792,478 (GRCm39) R951C probably damaging Het
Naalad2 G A 9: 18,242,146 (GRCm39) T586M probably damaging Het
Or4c108 C T 2: 88,804,173 (GRCm39) V21I probably benign Het
Oxct2b A G 4: 123,011,169 (GRCm39) N363S probably benign Het
Padi6 T G 4: 140,466,474 (GRCm39) N145T probably benign Het
Plekha5 T C 6: 140,496,818 (GRCm39) S435P probably damaging Het
Prkacb C A 3: 146,518,411 (GRCm39) G10C probably benign Het
Psg29 A T 7: 16,937,544 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Ptpro A G 6: 137,345,140 (GRCm39) I49V probably benign Het
Rassf1 A G 9: 107,429,004 (GRCm39) D70G probably benign Het
Rbm24 A T 13: 46,572,531 (GRCm39) T9S probably damaging Het
Rp1 T C 1: 4,218,937 (GRCm39) T948A unknown Het
Ryr2 A T 13: 11,609,924 (GRCm39) C4301S probably benign Het
S100pbp T C 4: 129,076,133 (GRCm39) D64G probably damaging Het
Samd3 A G 10: 26,120,428 (GRCm39) K141E possibly damaging Het
Scgb1b29 A T 7: 32,141,277 (GRCm39) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm39) T1448A possibly damaging Het
Slc51b T C 9: 65,320,210 (GRCm39) N86D probably benign Het
Slc6a3 G A 13: 73,715,720 (GRCm39) V452I probably benign Het
Sobp A G 10: 42,896,976 (GRCm39) probably null Het
Spats2 T C 15: 99,110,123 (GRCm39) S507P possibly damaging Het
Spns3 C T 11: 72,420,416 (GRCm39) A357T probably damaging Het
Suox A T 10: 128,507,367 (GRCm39) H220Q probably damaging Het
Tbc1d9b A T 11: 50,061,809 (GRCm39) S1106C probably benign Het
Tbx1 T C 16: 18,406,745 (GRCm39) D9G unknown Het
Tcaf2 A T 6: 42,601,404 (GRCm39) F885Y probably damaging Het
Tgoln1 T C 6: 72,593,262 (GRCm39) T73A probably benign Het
Tigd3 G A 19: 5,941,853 (GRCm39) P426S probably benign Het
Tmem233 T A 5: 116,221,260 (GRCm39) probably benign Het
Tnfrsf11a A G 1: 105,754,825 (GRCm39) D299G possibly damaging Het
Trim32 T C 4: 65,531,692 (GRCm39) V83A possibly damaging Het
Unc13a A T 8: 72,113,125 (GRCm39) M242K probably benign Het
Vat1 C T 11: 101,353,041 (GRCm39) G293D probably damaging Het
Vmn1r174 T A 7: 23,453,892 (GRCm39) V186D possibly damaging Het
Wdfy3 A G 5: 102,096,764 (GRCm39) Y345H probably damaging Het
Zzef1 C T 11: 72,766,003 (GRCm39) T1510I probably benign 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
BB007:Plcl2 UTSW 17 50,913,831 (GRCm39) missense probably benign
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
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'- CACCTGGACTGCATGTGTAG -3'
(R):5'- GAACCGCTGGATTAGTGTTTTC -3'

Sequencing Primer
(F):5'- ACTGCATGTGTAGTCAGTACTG -3'
(R):5'- ATTAGTGTTTTCTTTAGCCATGGAC -3'
Posted On 2021-10-11