Incidental Mutation 'R0098:Plcg1'
ID 64094
Institutional Source Beutler Lab
Gene Symbol Plcg1
Ensembl Gene ENSMUSG00000016933
Gene Name phospholipase C, gamma 1
Synonyms Plc-1, Cded, Plcg-1, Plc-gamma1
MMRRC Submission 038384-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0098 (G1)
Quality Score 90
Status Validated
Chromosome 2
Chromosomal Location 160573230-160617680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160573920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 62 (W62R)
Ref Sequence ENSEMBL: ENSMUSP00000134720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590] [ENSMUST00000174885]
AlphaFold Q62077
Predicted Effect probably damaging
Transcript: ENSMUST00000103115
AA Change: W62R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: W62R

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: W62R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: W62R

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 probably damaging
Transcript: ENSMUST00000151590
AA Change: W62R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933
AA Change: W62R

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 probably damaging
Transcript: ENSMUST00000174885
AA Change: W62R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134720
Gene: ENSMUSG00000016933
AA Change: W62R

DomainStartEndE-ValueType
SCOP:d1mai__ 27 110 2e-16 SMART
Blast:PH 28 110 6e-53 BLAST
Meta Mutation Damage Score 0.8701 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,127,689 (GRCm39) I97T probably damaging Het
Acp3 C T 9: 104,197,144 (GRCm39) probably null Het
Adam32 T A 8: 25,404,405 (GRCm39) Y200F possibly damaging Het
Alpk2 A G 18: 65,482,982 (GRCm39) L342S probably damaging Het
Arfgef3 A G 10: 18,465,390 (GRCm39) V2151A probably damaging Het
Atm T C 9: 53,429,869 (GRCm39) D389G probably benign Het
Atp10b A T 11: 43,080,431 (GRCm39) S236C probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Cndp1 T A 18: 84,646,949 (GRCm39) E246D probably damaging Het
Crebbp A G 16: 3,909,792 (GRCm39) L1078P probably damaging Het
Cyp20a1 G T 1: 60,426,413 (GRCm39) E452* probably null Het
Emb T C 13: 117,404,034 (GRCm39) V262A probably damaging Het
Ephb1 C T 9: 101,918,339 (GRCm39) R390H probably damaging Het
Faf1 T C 4: 109,792,696 (GRCm39) L556S probably damaging Het
Fam237b T A 5: 5,625,355 (GRCm39) L17Q possibly damaging Het
Fbf1 A T 11: 116,038,945 (GRCm39) probably null Het
Gid8 T A 2: 180,356,528 (GRCm39) I55N possibly damaging Het
Hexa T C 9: 59,465,383 (GRCm39) Y213H probably damaging Het
Kalrn A T 16: 33,795,989 (GRCm39) I1262K possibly damaging Het
Lrp1 C T 10: 127,388,607 (GRCm39) V3281I probably benign Het
Lrp2 T C 2: 69,305,756 (GRCm39) D2935G probably damaging Het
Lypd6 T A 2: 50,080,792 (GRCm39) V160E probably benign Het
Muc19 C T 15: 91,777,101 (GRCm39) noncoding transcript Het
Mybpc1 T C 10: 88,365,426 (GRCm39) D899G probably benign Het
Myo18a A G 11: 77,736,591 (GRCm39) E1564G probably damaging Het
Nrxn3 A G 12: 89,226,971 (GRCm39) D202G probably damaging Het
Palld C A 8: 61,978,120 (GRCm39) G890V probably damaging Het
Pcx C A 19: 4,651,775 (GRCm39) probably benign Het
Ppa2 C T 3: 133,076,234 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,888 (GRCm39) I254M probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rd3 A G 1: 191,717,261 (GRCm39) M244V probably benign Het
Rfx5 T A 3: 94,865,679 (GRCm39) V326E probably damaging Het
Rgs3 G C 4: 62,544,143 (GRCm39) R305P probably damaging Het
Rpp40 A G 13: 36,082,970 (GRCm39) Y173H probably benign Het
Ryr3 T C 2: 112,731,376 (GRCm39) N645D probably damaging Het
Sema3e T C 5: 14,302,446 (GRCm39) V657A possibly damaging Het
Serpina3n T A 12: 104,379,777 (GRCm39) V390E probably damaging Het
Shank1 A G 7: 43,962,709 (GRCm39) Y141C unknown Het
Stat2 T A 10: 128,119,131 (GRCm39) H428Q probably damaging Het
Stat5a A T 11: 100,766,452 (GRCm39) Q378L probably damaging Het
Tfrc G T 16: 32,442,244 (GRCm39) V490F probably damaging Het
Tnnt1 T C 7: 4,512,044 (GRCm39) N155S probably damaging Het
Topaz1 T C 9: 122,619,188 (GRCm39) Y1262H possibly damaging Het
Ubxn8 T C 8: 34,125,393 (GRCm39) probably benign Het
Unk A G 11: 115,940,995 (GRCm39) Y252C probably damaging Het
Vmn2r66 A C 7: 84,654,965 (GRCm39) M448R probably damaging Het
Zfp386 T A 12: 116,022,834 (GRCm39) L184* probably null Het
Zfp985 T C 4: 147,661,566 (GRCm39) S4P probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGTCCCCAGGAGCGTCTTTGT -3'
(R):5'- TAAGGGCCGGAATCCCACTCCA -3'

Sequencing Primer
(F):5'- AGGAGCGTCTTTGTTCCCG -3'
(R):5'- GTGTCCTATCAGGTGATCCAAGAC -3'
Posted On 2013-08-06