Incidental Mutation 'R5422:Plcl1'
ID 426606
Institutional Source Beutler Lab
Gene Symbol Plcl1
Ensembl Gene ENSMUSG00000038349
Gene Name phospholipase C-like 1
Synonyms C230017K02Rik, PRIP-1, PLC-L
MMRRC Submission 042846-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5422 (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 55736543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 628 (Y628F)
Ref Sequence ENSEMBL: ENSMUSP00000037854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042986]
AlphaFold Q3USB7
Predicted Effect probably benign
Transcript: ENSMUST00000042986
AA Change: Y628F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: Y628F

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: 97.1%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,425,606 (GRCm39) S1219G probably benign Het
Adgrg5 T A 8: 95,660,580 (GRCm39) I73N probably damaging Het
Agmat C A 4: 141,483,144 (GRCm39) H193N probably damaging Het
Ambn T C 5: 88,612,370 (GRCm39) probably null Het
Atp8b5 T A 4: 43,366,644 (GRCm39) C803S probably benign Het
Btaf1 A T 19: 36,928,507 (GRCm39) R109S probably benign Het
Btnl6 C T 17: 34,733,081 (GRCm39) G261R possibly damaging Het
Clk3 A G 9: 57,672,721 (GRCm39) V27A probably benign Het
Clu A G 14: 66,213,051 (GRCm39) S146G probably damaging Het
Cyp2w1 T C 5: 139,338,528 (GRCm39) F43L probably benign Het
Elf3 C T 1: 135,182,778 (GRCm39) E316K probably damaging Het
Epha5 A T 5: 84,479,349 (GRCm39) D218E probably damaging Het
Ereg T C 5: 91,222,666 (GRCm39) probably null Het
Ewsr1 A G 11: 5,030,668 (GRCm39) probably benign Het
Fat4 A G 3: 38,941,394 (GRCm39) I96V possibly damaging Het
Fgl2 T G 5: 21,580,808 (GRCm39) N383K probably damaging Het
Fkbp11 A T 15: 98,625,989 (GRCm39) probably null Het
Fn3k C A 11: 121,340,948 (GRCm39) P201Q probably damaging Het
Fsip2 A G 2: 82,812,572 (GRCm39) I2964V probably benign Het
Gbx1 C T 5: 24,709,667 (GRCm39) V393I possibly damaging Het
Gch1 C T 14: 47,394,906 (GRCm39) A187T probably damaging Het
Ghdc C A 11: 100,660,020 (GRCm39) K242N probably benign Het
Ghrhr A G 6: 55,365,188 (GRCm39) H394R probably benign Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Hnrnpa2b1 A T 6: 51,442,208 (GRCm39) S236R probably benign Het
Kcnj5 A G 9: 32,229,001 (GRCm39) Y66H probably benign Het
Kif15 T A 9: 122,813,954 (GRCm39) probably null Het
Magi3 C T 3: 103,958,684 (GRCm39) C467Y probably damaging Het
Map7 G T 10: 20,142,512 (GRCm39) V303F probably damaging Het
Mapk11 A G 15: 89,030,488 (GRCm39) L135P probably damaging Het
Mapkapk5 T A 5: 121,669,785 (GRCm39) probably null Het
Myh7b A C 2: 155,472,954 (GRCm39) Q1405P probably damaging Het
Nalcn A T 14: 123,752,777 (GRCm39) I328N probably damaging Het
Nprl2 C A 9: 107,420,796 (GRCm39) R144S probably benign Het
Ogfr G T 2: 180,237,067 (GRCm39) D551Y possibly damaging Het
Ogfr A T 2: 180,237,068 (GRCm39) D551V probably benign Het
Or6b13 A T 7: 139,782,305 (GRCm39) V126E probably damaging Het
Or8c10 A T 9: 38,279,270 (GRCm39) T143S probably benign Het
Parp14 T C 16: 35,686,545 (GRCm39) K101E probably benign Het
Pcdhb16 A T 18: 37,612,920 (GRCm39) T627S probably damaging Het
Pdzrn4 G A 15: 92,575,502 (GRCm39) G303S probably benign Het
Ptpn9 T A 9: 56,940,441 (GRCm39) W194R probably damaging Het
Ranbp9 A T 13: 43,573,102 (GRCm39) M474K probably benign Het
Rasgef1a T A 6: 118,065,095 (GRCm39) F370Y probably damaging Het
Rassf5 C A 1: 131,108,911 (GRCm39) R218L possibly damaging Het
Scart1 A T 7: 139,804,068 (GRCm39) H422L probably benign Het
Serpine2 C A 1: 79,794,592 (GRCm39) V114L probably benign Het
Serpine2 T C 1: 79,799,206 (GRCm39) Y16C probably benign Het
Sgms1 G T 19: 32,137,232 (GRCm39) N111K probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tbc1d17 A T 7: 44,498,292 (GRCm39) M1K probably null Het
Tcf12 A T 9: 71,776,320 (GRCm39) H403Q probably damaging Het
Thoc2l T C 5: 104,667,512 (GRCm39) I678T probably damaging Het
Thsd7b T C 1: 129,849,071 (GRCm39) S928P probably benign Het
Tjp1 A T 7: 64,952,715 (GRCm39) F1540I probably damaging Het
Tph2 T A 10: 114,915,669 (GRCm39) D457V possibly damaging Het
Usp9y T C Y: 1,314,676 (GRCm39) I2112V probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp335 T C 2: 164,749,650 (GRCm39) K249R probably damaging Het
Zfp54 C A 17: 21,654,788 (GRCm39) S427R probably benign Het
Zfp607b A G 7: 27,401,813 (GRCm39) T90A 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
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'- ATGTCAGGGGATTACAACGGTG -3'
(R):5'- GCATGATAGATGGCCTGAGGAC -3'

Sequencing Primer
(F):5'- TGAGCAGAAACATATCTGGCTCTG -3'
(R):5'- CATTTTGAAGAAACCAGCCAGTGTG -3'
Posted On 2016-09-01