Incidental Mutation 'R5030:Plcl2'
ID 391661
Institutional Source Beutler Lab
Gene Symbol Plcl2
Ensembl Gene ENSMUSG00000038910
Gene Name phospholipase C-like 2
Synonyms Plce2, PRIP-2
MMRRC Submission 042621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 50816431-50995512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50914347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 452 (R452L)
Ref Sequence ENSEMBL: ENSMUSP00000046584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043938]
AlphaFold Q8K394
Predicted Effect possibly damaging
Transcript: ENSMUST00000043938
AA Change: R452L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: R452L

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
Meta Mutation Damage Score 0.1045 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (87/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A C 5: 26,684,783 (GRCm39) noncoding transcript Het
Abca15 A T 7: 119,939,224 (GRCm39) E206V probably damaging Het
Acy1 A G 9: 106,310,596 (GRCm39) F343L probably benign Het
Adam22 T C 5: 8,229,645 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,607,948 (GRCm39) D4041E probably benign Het
Akr1c14 T C 13: 4,129,102 (GRCm39) S166P probably damaging Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Atm A T 9: 53,431,409 (GRCm39) Y316* probably null Het
Atp1a1 T C 3: 101,487,133 (GRCm39) D892G probably benign Het
Auts2 A G 5: 131,472,336 (GRCm39) V581A probably benign Het
Bltp1 A G 3: 36,997,548 (GRCm39) probably benign Het
Boll T A 1: 55,394,894 (GRCm39) N57I probably damaging Het
C1s2 A C 6: 124,612,547 (GRCm39) V36G possibly damaging Het
Capza1 T C 3: 104,748,154 (GRCm39) Y70C probably damaging Het
Carnmt1 T C 19: 18,668,950 (GRCm39) S292P possibly damaging Het
Cemip2 T G 19: 21,819,469 (GRCm39) F1087V probably benign Het
Cyp2g1 T G 7: 26,520,226 (GRCm39) V486G probably benign Het
Dennd6b T A 15: 89,080,454 (GRCm39) T49S possibly damaging Het
Dhx58 A T 11: 100,586,963 (GRCm39) I610N probably damaging Het
Elapor2 T A 5: 9,478,502 (GRCm39) N455K probably damaging Het
Fam170a T A 18: 50,415,021 (GRCm39) N222K probably benign Het
Fbn1 A G 2: 125,254,624 (GRCm39) V213A possibly damaging Het
Frem3 A C 8: 81,339,876 (GRCm39) D723A possibly damaging Het
Fsip2 A T 2: 82,818,836 (GRCm39) K4856N possibly damaging Het
Galnt17 A G 5: 130,905,351 (GRCm39) V571A probably damaging Het
Gm6124 A G 7: 38,872,454 (GRCm39) noncoding transcript Het
Gm8973 A G 15: 98,904,136 (GRCm39) noncoding transcript Het
Gpd2 A G 2: 57,194,417 (GRCm39) T107A probably damaging Het
Hsd17b11 G A 5: 104,151,158 (GRCm39) A192V probably damaging Het
Igkv6-25 C T 6: 70,192,426 (GRCm39) Q4* probably null Het
Kalrn A G 16: 33,796,112 (GRCm39) I1221T probably benign Het
Klhl9 G T 4: 88,638,771 (GRCm39) T490K possibly damaging Het
Lnpep A G 17: 17,799,571 (GRCm39) V28A probably damaging Het
Lrrc37 G A 11: 103,425,675 (GRCm39) P1419S unknown Het
Man2c1 A G 9: 57,047,923 (GRCm39) H843R probably benign Het
Map1b T C 13: 99,570,682 (GRCm39) K680E unknown Het
Metap2 A T 10: 93,715,539 (GRCm39) probably null Het
Mfsd2a A T 4: 122,843,949 (GRCm39) I340N possibly damaging Het
Mgll T C 6: 88,795,647 (GRCm39) probably null Het
Myh9 A G 15: 77,691,998 (GRCm39) probably benign Het
Ncapd3 A T 9: 26,983,062 (GRCm39) I937F probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Nova1 A G 12: 46,747,030 (GRCm39) S416P probably damaging Het
Oosp3 T C 19: 11,678,308 (GRCm39) W95R probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t26 A T 11: 49,039,188 (GRCm39) M35L probably benign Het
Or5p76 T A 7: 108,122,384 (GRCm39) I258F possibly damaging Het
Or7e175 A T 9: 20,049,363 (GRCm39) K317M probably benign Het
Pcdha7 T A 18: 37,108,501 (GRCm39) S509T probably damaging Het
Pdgfrb T C 18: 61,198,207 (GRCm39) V296A probably benign Het
Pdzd2 A T 15: 12,592,494 (GRCm39) L50* probably null Het
Poldip3 A T 15: 83,022,392 (GRCm39) F131I possibly damaging Het
Pwwp3a T C 10: 80,076,209 (GRCm39) probably benign Het
Rffl G A 11: 82,703,543 (GRCm39) R127* probably null Het
Sec24d T A 3: 123,152,550 (GRCm39) V854E probably damaging Het
Sgo2a T A 1: 58,056,918 (GRCm39) L1034* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm39) N95K possibly damaging Het
Spag17 C T 3: 99,992,657 (GRCm39) Q1718* probably null Het
Spdl1 C T 11: 34,714,267 (GRCm39) A141T probably benign Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Supv3l1 G T 10: 62,266,394 (GRCm39) A594D probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tmem131 T C 1: 36,866,255 (GRCm39) N483S possibly damaging Het
Tonsl A T 15: 76,522,301 (GRCm39) C231S probably damaging Het
Trav9n-4 T C 14: 53,532,305 (GRCm39) F53S possibly damaging Het
Trgv7 G T 13: 19,362,558 (GRCm39) L82F probably damaging Het
Trim45 T G 3: 100,835,388 (GRCm39) V457G probably damaging Het
Trpm1 T A 7: 63,885,579 (GRCm39) I865N probably damaging Het
Trpm3 C A 19: 22,676,130 (GRCm39) L99I probably benign Het
Twist1 T A 12: 34,008,440 (GRCm39) L155Q probably damaging Het
Vac14 A G 8: 111,437,018 (GRCm39) E577G possibly damaging Het
Vmn1r184 T C 7: 25,966,881 (GRCm39) V209A probably benign Het
Xdh C T 17: 74,198,288 (GRCm39) G1200R probably damaging Het
Zbbx C T 3: 74,990,990 (GRCm39) D290N possibly damaging Het
Zbtb40 T C 4: 136,725,263 (GRCm39) T585A probably benign Het
Zc3h4 T A 7: 16,156,155 (GRCm39) D262E unknown Het
Zfp777 G T 6: 48,014,601 (GRCm39) D368E probably damaging 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
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'- CAGGGTGTAGCACATATCAATGAG -3'
(R):5'- AAGCAAAGAACGCGTACTTG -3'

Sequencing Primer
(F):5'- CTGGAAATTATTCACAAATACGAGCC -3'
(R):5'- AGAACGCGTACTTGTTAATGATGTCG -3'
Posted On 2016-06-06