Incidental Mutation 'R6678:Plcl1'
ID 527331
Institutional Source Beutler Lab
Gene Symbol Plcl1
Ensembl Gene ENSMUSG00000038349
Gene Name phospholipase C-like 1
Synonyms C230017K02Rik, PRIP-1, PLC-L
MMRRC Submission 044797-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R6678 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55445080-55793444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55734935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 92 (K92R)
Ref Sequence ENSEMBL: ENSMUSP00000037854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042986]
AlphaFold Q3USB7
Predicted Effect probably benign
Transcript: ENSMUST00000042986
AA Change: K92R

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: K92R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,499,891 (GRCm39) N644S possibly damaging Het
Agl C A 3: 116,546,969 (GRCm39) V1294F probably damaging Het
Ash2l A C 8: 26,323,805 (GRCm39) W125G probably damaging Het
Dap C T 15: 31,273,396 (GRCm39) T51M probably benign Het
Dnah12 G A 14: 26,456,847 (GRCm39) R871H probably damaging Het
Filip1l T C 16: 57,390,333 (GRCm39) I307T probably benign Het
Gdap1l1 T A 2: 163,280,574 (GRCm39) S37T probably benign Het
Gm43302 G T 5: 105,438,820 (GRCm39) Q23K probably benign Het
Golga2 T C 2: 32,189,072 (GRCm39) V227A probably damaging Het
Gramd4 A T 15: 85,975,704 (GRCm39) S74C probably damaging Het
Gramd4 G C 15: 85,975,705 (GRCm39) S74T possibly damaging Het
Hsph1 A C 5: 149,541,962 (GRCm39) S755A probably benign Het
Inppl1 A G 7: 101,481,477 (GRCm39) V235A probably damaging Het
Kcnc1 A G 7: 46,047,229 (GRCm39) H43R probably benign Het
Klhl41 T G 2: 69,501,188 (GRCm39) S216R probably benign Het
Kmt2e A G 5: 23,704,293 (GRCm39) E1162G possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Ms4a13 T C 19: 11,161,222 (GRCm39) I106V probably benign Het
Myo1f G A 17: 33,794,819 (GRCm39) D20N probably damaging Het
Ndel1 T C 11: 68,724,239 (GRCm39) T245A possibly damaging Het
Or5al1 A T 2: 85,990,529 (GRCm39) F62I probably damaging Het
P2rx6 C A 16: 17,388,820 (GRCm39) N360K probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Prelp C T 1: 133,842,513 (GRCm39) D211N probably benign Het
Rgl1 T C 1: 152,400,475 (GRCm39) Y677C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 G T 13: 38,083,675 (GRCm39) D113Y probably damaging Het
Sf1 T A 19: 6,424,543 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,792,714 (GRCm39) probably null Het
Shprh T A 10: 11,042,289 (GRCm39) D757E probably benign Het
Slc6a1 A G 6: 114,284,737 (GRCm39) K81R probably benign Het
Spata31e4 A G 13: 50,855,946 (GRCm39) K528R probably benign Het
Ttc22 T A 4: 106,480,242 (GRCm39) S165R probably benign Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vwa7 C A 17: 35,238,776 (GRCm39) A288D probably damaging Het
Wdpcp A G 11: 21,671,105 (GRCm39) I449V probably benign Het
Wdsub1 G A 2: 59,692,975 (GRCm39) T313I probably benign Het
Zyg11a A G 4: 108,046,878 (GRCm39) V532A probably benign 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
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
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'- AATGTCCTTTGGAGCCTAATGG -3'
(R):5'- GGCAGAAATGTCCAGCTTGG -3'

Sequencing Primer
(F):5'- GGAGCCTAATGGTATTAATTGTCTC -3'
(R):5'- GAAATGTCCAGCTTGGCTTTTTCAAG -3'
Posted On 2018-07-23