Incidental Mutation 'IGL01356:Plcg1'
ID 75523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcg1
Ensembl Gene ENSMUSG00000016933
Gene Name phospholipase C, gamma 1
Synonyms Plc-1, Cded, Plcg-1, Plc-gamma1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01356
Quality Score
Status
Chromosome 2
Chromosomal Location 160573230-160617680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 160595813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 561 (G561W)
Ref Sequence ENSEMBL: ENSMUSP00000105088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590]
AlphaFold Q62077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000017077
Predicted Effect probably damaging
Transcript: ENSMUST00000103115
AA Change: G561W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: G561W

DomainStartEndE-ValueType
PH 33 144 5.54e-7 SMART
PLCXc 320 464 3.7e-91 SMART
PH 489 680 2.99e1 SMART
SH2 548 645 1.12e-30 SMART
SH2 666 747 3.78e-28 SMART
SH3 794 850 6.49e-16 SMART
PH 804 933 8.93e-2 SMART
PLCYc 953 1070 3.23e-73 SMART
C2 1089 1192 1.37e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109462
AA Change: G561W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: G561W

DomainStartEndE-ValueType
PH 33 144 5.54e-7 SMART
Pfam:EF-hand_like 240 318 5.2e-8 PFAM
PLCXc 320 464 3.7e-91 SMART
PH 489 680 2.99e1 SMART
SH2 548 645 1.12e-30 SMART
SH2 666 747 3.78e-28 SMART
SH3 794 850 6.49e-16 SMART
PH 804 933 8.93e-2 SMART
PLCYc 953 1070 3.23e-73 SMART
C2 1089 1192 1.37e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173335
Predicted Effect probably benign
Transcript: ENSMUST00000151590
SMART Domains Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933

DomainStartEndE-ValueType
PH 33 144 5.54e-7 SMART
Pfam:EF-hand_like 239 318 4.4e-8 PFAM
PLCXc 320 464 3.7e-91 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with arrested growth and/or abnormal hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 T C 7: 109,660,189 (GRCm39) probably benign Het
Acsl1 T C 8: 46,964,500 (GRCm39) probably null Het
Adck2 T C 6: 39,560,854 (GRCm39) V463A probably benign Het
Armh3 C T 19: 45,954,742 (GRCm39) C149Y possibly damaging Het
B4galt4 T A 16: 38,574,506 (GRCm39) I224N probably damaging Het
Caprin1 T C 2: 103,605,801 (GRCm39) T396A probably benign Het
Cbx3 T C 6: 51,452,281 (GRCm39) V32A probably damaging Het
Chd1 A T 17: 15,970,127 (GRCm39) K960I probably damaging Het
Cldn4 A G 5: 134,975,343 (GRCm39) I86T probably benign Het
Cst12 A C 2: 148,631,468 (GRCm39) D50A probably damaging Het
Dock10 A G 1: 80,501,459 (GRCm39) Y1864H probably damaging Het
Dscaml1 G A 9: 45,658,155 (GRCm39) G1642E probably benign Het
Jakmip3 T C 7: 138,619,341 (GRCm39) L241P probably damaging Het
Kdm1a C T 4: 136,281,202 (GRCm39) R669H probably damaging Het
Lin54 G A 5: 100,601,876 (GRCm39) P455S probably damaging Het
Lrig1 A G 6: 94,631,901 (GRCm39) Y100H probably benign Het
Lrig1 G A 6: 94,586,874 (GRCm39) P601S probably damaging Het
Mtrf1 A G 14: 79,660,865 (GRCm39) D419G probably benign Het
Naca C T 10: 127,877,584 (GRCm39) probably benign Het
Naip1 A G 13: 100,559,722 (GRCm39) L1094P probably damaging Het
Nell2 A T 15: 95,127,064 (GRCm39) N770K probably damaging Het
Notch4 A G 17: 34,800,000 (GRCm39) H987R possibly damaging Het
Or2a52 T A 6: 43,144,324 (GRCm39) C111S probably damaging Het
Or5p63 T A 7: 107,810,933 (GRCm39) I268F probably benign Het
Or7g26 T A 9: 19,230,238 (GRCm39) M142K probably damaging Het
Pate13 T A 9: 35,820,244 (GRCm39) C33* probably null Het
Ripor3 T A 2: 167,835,495 (GRCm39) M159L probably benign Het
Serpinb6a A G 13: 34,109,400 (GRCm39) S111P possibly damaging Het
Tas1r3 A T 4: 155,945,784 (GRCm39) H537Q probably benign Het
Tefm G A 11: 80,028,823 (GRCm39) R43* probably null Het
Tiam1 A G 16: 89,634,676 (GRCm39) V878A probably damaging Het
Vmn1r203 A G 13: 22,708,947 (GRCm39) S243G probably damaging Het
Vmn2r124 G T 17: 18,293,733 (GRCm39) V607L probably benign Het
Vps8 T G 16: 21,336,107 (GRCm39) probably null Het
Ythdf2 A T 4: 131,932,661 (GRCm39) D166E possibly damaging Het
Zan A G 5: 137,434,694 (GRCm39) V2203A unknown Het
Other mutations in Plcg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Plcg1 APN 2 160,599,186 (GRCm39) missense probably damaging 1.00
IGL00885:Plcg1 APN 2 160,600,003 (GRCm39) missense probably benign 0.03
IGL01066:Plcg1 APN 2 160,596,318 (GRCm39) missense probably damaging 1.00
IGL01629:Plcg1 APN 2 160,599,930 (GRCm39) missense possibly damaging 0.69
IGL01732:Plcg1 APN 2 160,589,699 (GRCm39) missense probably damaging 0.97
IGL01754:Plcg1 APN 2 160,603,353 (GRCm39) missense probably damaging 1.00
IGL02195:Plcg1 APN 2 160,595,846 (GRCm39) missense possibly damaging 0.83
IGL02371:Plcg1 APN 2 160,595,427 (GRCm39) missense probably damaging 0.99
IGL02671:Plcg1 APN 2 160,597,672 (GRCm39) nonsense probably null
IGL03096:Plcg1 APN 2 160,599,126 (GRCm39) splice site probably benign
IGL03129:Plcg1 APN 2 160,616,446 (GRCm39) critical splice acceptor site probably null
IGL03139:Plcg1 APN 2 160,590,049 (GRCm39) critical splice donor site probably null
IGL03211:Plcg1 APN 2 160,601,611 (GRCm39) missense possibly damaging 0.82
suscepit UTSW 2 160,595,522 (GRCm39) splice site probably null
IGL03047:Plcg1 UTSW 2 160,596,799 (GRCm39) missense probably damaging 1.00
R0098:Plcg1 UTSW 2 160,573,920 (GRCm39) missense probably damaging 1.00
R0390:Plcg1 UTSW 2 160,594,286 (GRCm39) missense probably damaging 1.00
R0413:Plcg1 UTSW 2 160,603,349 (GRCm39) missense probably damaging 1.00
R0650:Plcg1 UTSW 2 160,595,283 (GRCm39) splice site probably benign
R0679:Plcg1 UTSW 2 160,598,830 (GRCm39) missense probably damaging 1.00
R0709:Plcg1 UTSW 2 160,593,698 (GRCm39) splice site probably null
R1719:Plcg1 UTSW 2 160,595,663 (GRCm39) missense probably null 0.94
R1721:Plcg1 UTSW 2 160,573,840 (GRCm39) missense probably damaging 0.99
R1727:Plcg1 UTSW 2 160,590,008 (GRCm39) missense probably benign 0.00
R1978:Plcg1 UTSW 2 160,594,498 (GRCm39) splice site probably null
R2277:Plcg1 UTSW 2 160,597,725 (GRCm39) missense possibly damaging 0.48
R2698:Plcg1 UTSW 2 160,603,383 (GRCm39) missense possibly damaging 0.90
R3832:Plcg1 UTSW 2 160,596,357 (GRCm39) missense possibly damaging 0.95
R4094:Plcg1 UTSW 2 160,589,761 (GRCm39) missense probably damaging 0.98
R4260:Plcg1 UTSW 2 160,593,627 (GRCm39) critical splice donor site probably null
R4622:Plcg1 UTSW 2 160,589,688 (GRCm39) splice site probably benign
R4837:Plcg1 UTSW 2 160,592,906 (GRCm39) missense probably benign 0.00
R4942:Plcg1 UTSW 2 160,595,509 (GRCm39) splice site probably null
R5514:Plcg1 UTSW 2 160,595,275 (GRCm39) critical splice donor site probably null
R5647:Plcg1 UTSW 2 160,593,588 (GRCm39) missense probably benign 0.45
R5929:Plcg1 UTSW 2 160,595,522 (GRCm39) splice site probably null
R6303:Plcg1 UTSW 2 160,603,383 (GRCm39) missense possibly damaging 0.90
R6304:Plcg1 UTSW 2 160,603,383 (GRCm39) missense possibly damaging 0.90
R6471:Plcg1 UTSW 2 160,595,630 (GRCm39) missense probably benign 0.10
R6500:Plcg1 UTSW 2 160,596,487 (GRCm39) missense probably damaging 1.00
R7017:Plcg1 UTSW 2 160,600,017 (GRCm39) missense probably damaging 1.00
R7113:Plcg1 UTSW 2 160,590,203 (GRCm39) missense possibly damaging 0.78
R7137:Plcg1 UTSW 2 160,595,846 (GRCm39) missense possibly damaging 0.83
R7155:Plcg1 UTSW 2 160,596,300 (GRCm39) missense probably damaging 1.00
R7211:Plcg1 UTSW 2 160,573,794 (GRCm39) missense probably benign 0.02
R7777:Plcg1 UTSW 2 160,596,523 (GRCm39) missense possibly damaging 0.89
R7918:Plcg1 UTSW 2 160,595,585 (GRCm39) missense probably damaging 1.00
R7934:Plcg1 UTSW 2 160,616,498 (GRCm39) missense possibly damaging 0.53
R8309:Plcg1 UTSW 2 160,595,853 (GRCm39) missense probably benign 0.00
R8344:Plcg1 UTSW 2 160,589,816 (GRCm39) missense probably benign 0.00
R8377:Plcg1 UTSW 2 160,596,842 (GRCm39) missense probably damaging 1.00
R8524:Plcg1 UTSW 2 160,603,387 (GRCm39) critical splice donor site probably null
R8708:Plcg1 UTSW 2 160,596,473 (GRCm39) splice site probably benign
R8831:Plcg1 UTSW 2 160,589,732 (GRCm39) missense probably benign 0.02
R8936:Plcg1 UTSW 2 160,589,986 (GRCm39) missense probably benign 0.02
R9414:Plcg1 UTSW 2 160,603,276 (GRCm39) missense possibly damaging 0.80
R9466:Plcg1 UTSW 2 160,596,520 (GRCm39) missense probably benign
R9608:Plcg1 UTSW 2 160,597,671 (GRCm39) missense probably benign 0.02
R9755:Plcg1 UTSW 2 160,573,780 (GRCm39) missense probably benign 0.27
Z1176:Plcg1 UTSW 2 160,600,047 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07