Incidental Mutation 'R8936:Plcg1'
ID 680616
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 068779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8936 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 160573230-160617680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160589986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 135 (K135E)
Ref Sequence ENSEMBL: ENSMUSP00000133771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590] [ENSMUST00000174885]
AlphaFold Q62077
Predicted Effect probably benign
Transcript: ENSMUST00000103115
AA Change: K135E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: K135E

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
SMART Domains Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: K135E

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 benign
Transcript: ENSMUST00000151590
AA Change: K135E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933
AA Change: K135E

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 benign
Transcript: ENSMUST00000174885
SMART Domains Protein: ENSMUSP00000134720
Gene: ENSMUSG00000016933

DomainStartEndE-ValueType
SCOP:d1mai__ 27 110 2e-16 SMART
Blast:PH 28 110 6e-53 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,797,101 (GRCm39) K491E probably benign Het
Abcd3 T C 3: 121,569,117 (GRCm39) I374V probably benign Het
Adam34 G A 8: 44,104,439 (GRCm39) T402I probably benign Het
Angptl7 G T 4: 148,581,790 (GRCm39) H199N probably benign Het
Ankrd11 A G 8: 123,621,840 (GRCm39) C671R possibly damaging Het
Anxa7 G A 14: 20,521,495 (GRCm39) P67L unknown Het
Ap3d1 T A 10: 80,547,952 (GRCm39) Q913H probably benign Het
Arhgef37 A G 18: 61,656,948 (GRCm39) I39T probably damaging Het
Armh4 G A 14: 50,008,024 (GRCm39) T483I probably damaging Het
C3ar1 T A 6: 122,828,044 (GRCm39) T58S probably damaging Het
Caap1 A T 4: 94,389,332 (GRCm39) L334Q probably damaging Het
Ccr1 A T 9: 123,763,882 (GRCm39) I216K probably damaging Het
Cdh9 T A 15: 16,831,162 (GRCm39) probably null Het
Cept1 A G 3: 106,411,921 (GRCm39) F351S possibly damaging Het
Cfap61 A G 2: 145,791,879 (GRCm39) D112G possibly damaging Het
Cul9 T A 17: 46,839,528 (GRCm39) S817C possibly damaging Het
Dido1 A G 2: 180,303,195 (GRCm39) S1570P probably benign Het
Disc1 A G 8: 125,814,754 (GRCm39) D206G probably damaging Het
Dock5 T A 14: 68,083,439 (GRCm39) R157* probably null Het
Dpp6 A G 5: 27,926,140 (GRCm39) D738G probably damaging Het
Enpep A G 3: 129,125,884 (GRCm39) F83L possibly damaging Het
F10 G T 8: 13,095,086 (GRCm39) W81L probably damaging Het
Fam217a T C 13: 35,095,147 (GRCm39) D356G probably damaging Het
Fes T C 7: 80,031,473 (GRCm39) E467G probably damaging Het
Fignl2 A T 15: 100,951,339 (GRCm39) D314E unknown Het
Foxh1 T C 15: 76,552,719 (GRCm39) probably benign Het
Gdpd5 T C 7: 99,109,199 (GRCm39) L573P probably benign Het
Gigyf1 T A 5: 137,523,469 (GRCm39) S934T probably damaging Het
Gm7356 C T 17: 14,221,937 (GRCm39) V31I probably benign Het
Hoatz A G 9: 51,011,298 (GRCm39) probably null Het
Hoxa2 C A 6: 52,140,517 (GRCm39) K156N probably damaging Het
Ifi203 G A 1: 173,756,857 (GRCm39) probably benign Het
Il5ra A T 6: 106,692,604 (GRCm39) D380E possibly damaging Het
Ino80c C A 18: 24,254,865 (GRCm39) probably benign Het
Kif18a T A 2: 109,163,966 (GRCm39) W772R probably benign Het
Lipo3 G T 19: 33,557,880 (GRCm39) Q171K probably damaging Het
Mga A T 2: 119,794,709 (GRCm39) T2798S probably damaging Het
Msantd5l A G 11: 51,145,249 (GRCm39) S113P probably damaging Het
Mybpc1 T A 10: 88,394,437 (GRCm39) T297S probably benign Het
Myh7 T G 14: 55,228,440 (GRCm39) Q222P probably benign Het
N4bp2l2 T C 5: 150,585,362 (GRCm39) D206G probably benign Het
Nacc2 G C 2: 25,952,216 (GRCm39) T380S probably benign Het
Niban3 T A 8: 72,060,307 (GRCm39) probably benign Het
Nkpd1 T A 7: 19,255,875 (GRCm39) D186E probably damaging Het
Nol10 A T 12: 17,466,863 (GRCm39) E581V probably benign Het
Ntrk1 A T 3: 87,693,366 (GRCm39) N255K possibly damaging Het
Nudt5 T G 2: 5,869,228 (GRCm39) D151E probably benign Het
Obscn A T 11: 58,892,858 (GRCm39) L6796Q probably benign Het
Or10p21 C T 10: 128,847,802 (GRCm39) A216V probably benign Het
Or4k2 A G 14: 50,423,999 (GRCm39) I225T possibly damaging Het
Oxct2b A G 4: 123,010,838 (GRCm39) T253A probably benign Het
Patl1 G A 19: 11,891,725 (GRCm39) C10Y probably damaging Het
Pikfyve A G 1: 65,310,427 (GRCm39) R1905G possibly damaging Het
Pkhd1l1 A G 15: 44,402,312 (GRCm39) E2228G possibly damaging Het
Proz A G 8: 13,115,319 (GRCm39) T112A probably benign Het
Prune2 A G 19: 17,099,199 (GRCm39) N1568D probably benign Het
Rbm4 A G 19: 4,837,539 (GRCm39) V431A probably benign Het
Rgs19 G T 2: 181,333,058 (GRCm39) C40* probably null Het
Rimbp3 T A 16: 17,030,884 (GRCm39) I1436K probably benign Het
Rnps1 T A 17: 24,641,176 (GRCm39) M192K probably damaging Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Slc17a9 G A 2: 180,380,210 (GRCm39) V318I probably benign Het
Slc5a12 A G 2: 110,467,455 (GRCm39) I412V probably damaging Het
Smc4 T A 3: 68,925,491 (GRCm39) N329K probably benign Het
St3gal4 G A 9: 34,964,723 (GRCm39) R165W probably damaging Het
Strbp G A 2: 37,493,949 (GRCm39) R375* probably null Het
Tacc2 A G 7: 130,228,367 (GRCm39) N1684S possibly damaging Het
Tet1 A T 10: 62,676,063 (GRCm39) L671* probably null Het
Tex2 C A 11: 106,458,144 (GRCm39) E429* probably null Het
Tgm4 T C 9: 122,869,541 (GRCm39) I40T possibly damaging Het
Tmem132d C T 5: 127,869,676 (GRCm39) D553N probably damaging Het
Tnks A T 8: 35,320,501 (GRCm39) Y723* probably null Het
Tnks1bp1 A T 2: 84,894,320 (GRCm39) T1416S probably benign Het
Tnxb T A 17: 34,904,646 (GRCm39) L1137Q probably damaging Het
Tor4a A C 2: 25,085,202 (GRCm39) C68G probably damaging Het
Tubb2b A C 13: 34,312,445 (GRCm39) V116G probably damaging Het
Upb1 T A 10: 75,250,827 (GRCm39) S99T probably benign Het
Vmn1r31 T A 6: 58,449,083 (GRCm39) I261F unknown Het
Vmn1r53 T C 6: 90,200,571 (GRCm39) Y251C probably benign Het
Vmn2r58 T C 7: 41,513,981 (GRCm39) R221G Het
Vmn2r88 A T 14: 51,655,983 (GRCm39) I740F possibly damaging Het
Zfp644 C T 5: 106,783,503 (GRCm39) G1015R probably damaging Het
Zfy1 T C Y: 738,726 (GRCm39) D160G unknown Het
Zscan25 T A 5: 145,223,200 (GRCm39) V156E probably damaging Het
Zyg11b A T 4: 108,109,356 (GRCm39) F443I 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
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
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'- GGCCAGATCAATCACACTGC -3'
(R):5'- AGGGCCTCTTCTCAGCTAAG -3'

Sequencing Primer
(F):5'- AGATCAATCACACTGCTTTGTCATC -3'
(R):5'- GGCCTCTTCTCAGCTAAGGTAAAG -3'
Posted On 2021-08-31