Incidental Mutation 'IGL01732:Plcg1'
ID 105546
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 # IGL01732
Quality Score
Status
Chromosome 2
Chromosomal Location 160573230-160617680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160589699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 74 (D74E)
Ref Sequence ENSEMBL: ENSMUSP00000134720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590] [ENSMUST00000174885]
AlphaFold Q62077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000017077
Predicted Effect probably benign
Transcript: ENSMUST00000103115
AA Change: D74E

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: D74E

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 benign
Transcript: ENSMUST00000109462
AA Change: D74E

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: D74E

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: ENSMUST00000133937
Predicted Effect probably damaging
Transcript: ENSMUST00000151590
AA Change: D74E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933
AA Change: D74E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154038
Predicted Effect probably damaging
Transcript: ENSMUST00000174885
AA Change: D74E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134720
Gene: ENSMUSG00000016933
AA Change: D74E

DomainStartEndE-ValueType
SCOP:d1mai__ 27 110 2e-16 SMART
Blast:PH 28 110 6e-53 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173335
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,369,471 (GRCm39) E341* probably null Het
Alpk3 A G 7: 80,707,390 (GRCm39) R5G unknown Het
Arhgef10l C T 4: 140,307,726 (GRCm39) V113M probably damaging Het
Brca2 T A 5: 150,465,852 (GRCm39) I1872K probably benign Het
Cdk17 C A 10: 93,053,907 (GRCm39) P134T probably benign Het
Cerk A G 15: 86,030,517 (GRCm39) S35P possibly damaging Het
Cfap126 T C 1: 170,954,305 (GRCm39) V174A possibly damaging Het
Cfhr1 T C 1: 139,478,606 (GRCm39) T255A probably benign Het
Clcn1 A G 6: 42,287,606 (GRCm39) probably benign Het
Copz1 A G 15: 103,206,318 (GRCm39) E151G probably benign Het
Cubn G A 2: 13,494,747 (GRCm39) Q101* probably null Het
Eri1 T C 8: 35,958,397 (GRCm39) E12G possibly damaging Het
Fut9 A G 4: 25,619,867 (GRCm39) F316L possibly damaging Het
Garin1a A T 6: 29,285,979 (GRCm39) H146L probably damaging Het
Gm973 A G 1: 59,669,396 (GRCm39) I816V probably benign Het
Itln1 A G 1: 171,362,348 (GRCm39) M11T probably benign Het
Klc2 C T 19: 5,159,825 (GRCm39) R458Q probably damaging Het
Lrrc8b A T 5: 105,633,826 (GRCm39) E766V probably damaging Het
Mmadhc A T 2: 50,171,197 (GRCm39) I205N probably damaging Het
Myo10 A G 15: 25,732,149 (GRCm39) I342V probably benign Het
Ncapg T A 5: 45,851,195 (GRCm39) V796D probably damaging Het
Olfm3 A C 3: 114,890,649 (GRCm39) D134A possibly damaging Het
Or3a1c T C 11: 74,046,279 (GRCm39) C100R probably damaging Het
Or51t4 T A 7: 102,598,446 (GRCm39) I248N probably damaging Het
Or56b2 T C 7: 104,337,543 (GRCm39) M107T possibly damaging Het
Phldb3 A G 7: 24,326,751 (GRCm39) E593G probably damaging Het
Plekhm3 T C 1: 64,961,407 (GRCm39) D283G probably benign Het
Pnpla6 C A 8: 3,572,616 (GRCm39) T279N probably damaging Het
Prkcq G A 2: 11,265,644 (GRCm39) probably benign Het
Rbm11 G A 16: 75,397,510 (GRCm39) A147T probably benign Het
Rnf103 A G 6: 71,487,366 (GRCm39) K666E probably damaging Het
Selenos A G 7: 65,730,137 (GRCm39) Y45C probably damaging Het
Septin11 A G 5: 93,309,085 (GRCm39) Y255C probably damaging Het
Serpinb3c T C 1: 107,199,702 (GRCm39) H273R probably benign Het
Slc35f2 A G 9: 53,713,909 (GRCm39) D141G probably damaging Het
Sntg2 A T 12: 30,362,648 (GRCm39) Y33N probably damaging Het
Snx19 C A 9: 30,373,649 (GRCm39) T904K probably damaging Het
Tenm4 A G 7: 96,544,716 (GRCm39) Y2244C probably damaging Het
Tescl A G 7: 24,032,872 (GRCm39) V151A probably damaging Het
Tnrc18 C T 5: 142,757,816 (GRCm39) V902M unknown Het
Trmt13 A G 3: 116,375,113 (GRCm39) L465S probably damaging Het
Ube2j2 T G 4: 156,041,788 (GRCm39) V249G probably damaging Het
Zan T C 5: 137,391,273 (GRCm39) K4737R unknown Het
Zc3h6 T C 2: 128,853,795 (GRCm39) I430T probably damaging Het
Zfp750 G A 11: 121,403,819 (GRCm39) S352L probably benign Het
Zfp819 A G 7: 43,265,846 (GRCm39) K34E probably benign 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
IGL01356:Plcg1 APN 2 160,595,813 (GRCm39) missense probably damaging 1.00
IGL01629:Plcg1 APN 2 160,599,930 (GRCm39) missense possibly damaging 0.69
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 2014-01-21