Incidental Mutation 'R4615:Plcl1'
ID 344994
Institutional Source Beutler Lab
Gene Symbol Plcl1
Ensembl Gene ENSMUSG00000038349
Gene Name phospholipase C-like 1
Synonyms C230017K02Rik, PRIP-1, PLC-L
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 55445080-55793444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55737293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 878 (N878I)
Ref Sequence ENSEMBL: ENSMUSP00000037854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042986]
AlphaFold Q3USB7
Predicted Effect probably benign
Transcript: ENSMUST00000042986
AA Change: N878I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: N878I

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
PH 115 226 6.98e-4 SMART
low complexity region 301 310 N/A INTRINSIC
Pfam:EF-hand_like 316 398 5.9e-27 PFAM
PLCXc 399 543 2.13e-82 SMART
low complexity region 550 564 N/A INTRINSIC
PLCYc 586 702 2.15e-69 SMART
C2 723 829 1.02e-21 SMART
low complexity region 1080 1092 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187059
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants display impaired motor coordination and decreased sensitivity to the sedative diazepam. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A possibly damaging Het
Other mutations in Plcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Plcl1 APN 1 55,445,695 (GRCm39) missense probably benign
IGL00491:Plcl1 APN 1 55,752,657 (GRCm39) critical splice donor site probably null
IGL00753:Plcl1 APN 1 55,735,897 (GRCm39) missense probably damaging 1.00
IGL01415:Plcl1 APN 1 55,735,555 (GRCm39) missense possibly damaging 0.92
IGL03024:Plcl1 APN 1 55,734,946 (GRCm39) missense probably damaging 1.00
K3955:Plcl1 UTSW 1 55,737,098 (GRCm39) missense possibly damaging 0.78
PIT4791001:Plcl1 UTSW 1 55,741,090 (GRCm39) missense probably benign 0.03
R0066:Plcl1 UTSW 1 55,752,634 (GRCm39) missense probably damaging 0.99
R0066:Plcl1 UTSW 1 55,752,634 (GRCm39) missense probably damaging 0.99
R0083:Plcl1 UTSW 1 55,737,098 (GRCm39) missense possibly damaging 0.78
R0086:Plcl1 UTSW 1 55,754,742 (GRCm39) missense probably damaging 1.00
R0092:Plcl1 UTSW 1 55,735,924 (GRCm39) missense probably damaging 0.98
R0108:Plcl1 UTSW 1 55,737,098 (GRCm39) missense possibly damaging 0.78
R1716:Plcl1 UTSW 1 55,734,997 (GRCm39) missense probably damaging 0.99
R2061:Plcl1 UTSW 1 55,790,504 (GRCm39) missense probably benign 0.01
R2128:Plcl1 UTSW 1 55,736,997 (GRCm39) missense probably damaging 1.00
R2869:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2869:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2870:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2870:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2872:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2872:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R2873:Plcl1 UTSW 1 55,736,309 (GRCm39) missense probably benign 0.09
R3819:Plcl1 UTSW 1 55,735,758 (GRCm39) missense probably benign
R3974:Plcl1 UTSW 1 55,737,374 (GRCm39) missense probably benign 0.30
R3975:Plcl1 UTSW 1 55,737,374 (GRCm39) missense probably benign 0.30
R4214:Plcl1 UTSW 1 55,790,494 (GRCm39) nonsense probably null
R4400:Plcl1 UTSW 1 55,754,736 (GRCm39) missense probably damaging 1.00
R4452:Plcl1 UTSW 1 55,736,045 (GRCm39) missense probably benign 0.00
R5060:Plcl1 UTSW 1 55,735,671 (GRCm39) missense possibly damaging 0.84
R5422:Plcl1 UTSW 1 55,736,543 (GRCm39) missense probably benign 0.00
R5568:Plcl1 UTSW 1 55,735,309 (GRCm39) missense possibly damaging 0.82
R5781:Plcl1 UTSW 1 55,735,148 (GRCm39) missense possibly damaging 0.92
R5809:Plcl1 UTSW 1 55,735,160 (GRCm39) missense probably damaging 1.00
R6009:Plcl1 UTSW 1 55,735,405 (GRCm39) missense probably damaging 1.00
R6339:Plcl1 UTSW 1 55,735,474 (GRCm39) missense probably damaging 1.00
R6431:Plcl1 UTSW 1 55,736,411 (GRCm39) missense probably benign 0.03
R6534:Plcl1 UTSW 1 55,735,907 (GRCm39) missense probably damaging 1.00
R6565:Plcl1 UTSW 1 55,737,117 (GRCm39) nonsense probably null
R6678:Plcl1 UTSW 1 55,734,935 (GRCm39) missense probably benign 0.13
R6773:Plcl1 UTSW 1 55,790,461 (GRCm39) missense probably benign 0.03
R6925:Plcl1 UTSW 1 55,445,757 (GRCm39) nonsense probably null
R7168:Plcl1 UTSW 1 55,736,622 (GRCm39) missense probably damaging 1.00
R7256:Plcl1 UTSW 1 55,737,377 (GRCm39) missense probably benign 0.45
R7522:Plcl1 UTSW 1 55,735,523 (GRCm39) missense probably benign 0.31
R7527:Plcl1 UTSW 1 55,736,273 (GRCm39) missense probably damaging 1.00
R7536:Plcl1 UTSW 1 55,752,640 (GRCm39) nonsense probably null
R7585:Plcl1 UTSW 1 55,445,608 (GRCm39) missense probably benign 0.00
R7591:Plcl1 UTSW 1 55,736,608 (GRCm39) missense probably benign 0.01
R7689:Plcl1 UTSW 1 55,736,627 (GRCm39) missense probably damaging 1.00
R7960:Plcl1 UTSW 1 55,736,443 (GRCm39) missense possibly damaging 0.48
R8029:Plcl1 UTSW 1 55,735,237 (GRCm39) missense probably benign 0.26
R8241:Plcl1 UTSW 1 55,734,976 (GRCm39) missense probably benign 0.01
R8323:Plcl1 UTSW 1 55,736,895 (GRCm39) missense possibly damaging 0.58
R9000:Plcl1 UTSW 1 55,736,990 (GRCm39) missense probably damaging 1.00
R9331:Plcl1 UTSW 1 55,736,030 (GRCm39) missense possibly damaging 0.95
R9358:Plcl1 UTSW 1 55,735,810 (GRCm39) missense probably damaging 1.00
R9432:Plcl1 UTSW 1 55,445,587 (GRCm39) missense probably benign
R9452:Plcl1 UTSW 1 55,734,992 (GRCm39) missense probably damaging 1.00
R9652:Plcl1 UTSW 1 55,735,450 (GRCm39) missense probably benign 0.00
R9802:Plcl1 UTSW 1 55,735,241 (GRCm39) missense probably damaging 0.98
Z1176:Plcl1 UTSW 1 55,790,443 (GRCm39) nonsense probably null
Z1176:Plcl1 UTSW 1 55,735,199 (GRCm39) missense probably benign 0.20
Z1177:Plcl1 UTSW 1 55,736,043 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TTTGAATGTCTGCAGCCCG -3'
(R):5'- AATACAGTGGTGCATGGGTCTG -3'

Sequencing Primer
(F):5'- AATGTCTGCAGCCCGGGTAC -3'
(R):5'- TATTTGCAAGCCAGCCATCGG -3'
Posted On 2015-09-25