Incidental Mutation 'R0086:Plcl1'
ID 19874
Institutional Source Beutler Lab
Gene Symbol Plcl1
Ensembl Gene ENSMUSG00000038349
Gene Name phospholipase C-like 1
Synonyms C230017K02Rik, PRIP-1, PLC-L
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R0086 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 55445080-55793444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55754742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1030 (W1030R)
Ref Sequence ENSEMBL: ENSMUSP00000037854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042986]
AlphaFold Q3USB7
Predicted Effect probably damaging
Transcript: ENSMUST00000042986
AA Change: W1030R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: W1030R

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
Meta Mutation Damage Score 0.8992 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably 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
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
R4615:Plcl1 UTSW 1 55,737,293 (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'- GAGTGAAACAGAGCCTGAACCAGTC -3'
(R):5'- TCACTTAGAGCTAACTCCGGTGGTC -3'

Sequencing Primer
(F):5'- GCCTGAACCAGTCATTTTAGATGC -3'
(R):5'- TAACTCCGGTGGTCAGGAC -3'
Posted On 2013-04-11