Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Plcg1'

198203

Institutional Source

Beutler Lab

Gene Symbol

Plcg1

Ensembl Gene

ENSMUSG00000016933

Gene Name

phospholipase C, gamma 1

Synonyms

Cded, Plc-gamma1, Plcg-1, Plc-1

MMRRC Submission

039759-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160731300-160775760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160748088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000099404 (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: E142G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: E142G

Domain	Start	End	E-Value	Type
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: E142G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: E142G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000151590
AA Change: E142G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933
AA Change: E142G

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000173335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173791

Predicted Effect

probably benign
Transcript: ENSMUST00000174885

SMART Domains

Protein: ENSMUSP00000134720
Gene: ENSMUSG00000016933

Domain	Start	End	E-Value	Type
SCOP:d1mai__	27	110	2e-16	SMART
Blast:PH	28	110	6e-53	BLAST

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,428,964		probably benign	Het
Ak2	C	T	4: 129,007,763	P159L	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,641,051	L99P	probably damaging	Het
Anxa8	T	A	14: 34,089,590	M34K	probably damaging	Het
Axl	T	G	7: 25,760,766	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,363,878		probably benign	Het
Cdh24	A	T	14: 54,638,638	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,272,679	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,289,972	S746T	possibly damaging	Het
Cep120	T	C	18: 53,727,729	M210V	probably benign	Het
Chga	C	T	12: 102,561,437	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,405,754	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,213,744	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,796,574		probably null	Het
Copz2	T	C	11: 96,853,475	V71A	probably benign	Het
Dennd3	G	T	15: 73,565,128	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,659,464	T56A	probably damaging	Het
Dnah17	G	A	11: 118,070,489	T2557I	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Eif3b	T	C	5: 140,425,322	I176T	probably damaging	Het
Eif4b	T	A	15: 102,090,062	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,639,280	Y7C	probably damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Epg5	T	A	18: 78,015,815	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,827,968	E1222V	probably benign	Het
Fam160b2	C	A	14: 70,593,998	G32V	probably damaging	Het
Fhdc1	T	A	3: 84,446,176	I581F	possibly damaging	Het
Fstl4	A	C	11: 53,068,651	Q173P	probably damaging	Het
Gm266	A	G	12: 111,485,479	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,849,779		probably benign	Het
Gtf2h3	A	G	5: 124,590,356	Q156R	probably benign	Het
H2-T23	T	C	17: 36,031,653	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,293,264	A68E	probably benign	Het
Kcna7	A	T	7: 45,409,506	I406F	possibly damaging	Het
Lbr	A	G	1: 181,819,916	I432T	probably benign	Het
Lnx1	A	T	5: 74,607,916		probably null	Het
Lrrcc1	T	A	3: 14,537,363	I50N	probably damaging	Het
Lss	T	C	10: 76,539,844	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,006,525	F212L	probably benign	Het
Methig1	A	C	15: 100,353,249	I14L	probably benign	Het
Mrpl41	A	T	2: 24,974,624	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,093,982	D83Y	probably damaging	Het
Myh1	T	A	11: 67,210,466		probably benign	Het
Myo1e	T	C	9: 70,376,524	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,256,019		probably benign	Het
Nlrp4e	T	A	7: 23,320,995	N302K	probably benign	Het
Nt5e	T	A	9: 88,328,029	M115K	possibly damaging	Het
Nup153	A	T	13: 46,693,785	C723S	probably damaging	Het
Obox6	G	A	7: 15,834,577	P125S	probably benign	Het
Olfr1104	A	G	2: 87,022,263	F94L	probably damaging	Het
Olfr235	T	G	19: 12,269,001	I257S	possibly damaging	Het
Olfr330	A	T	11: 58,529,516	S157T	possibly damaging	Het
Olfr354	G	A	2: 36,907,393	C149Y	probably benign	Het
Olfr665	C	T	7: 104,881,514	T269I	probably benign	Het
Pcdh1	A	C	18: 38,203,032	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,334,587	D187V	probably damaging	Het
Pclo	A	G	5: 14,676,987		probably benign	Het
Pdcl3	T	A	1: 38,995,755	I80K	possibly damaging	Het
Pde12	A	T	14: 26,668,867	V229E	probably benign	Het
Plxnb1	A	G	9: 109,101,057		probably null	Het
Pnpla1	A	G	17: 28,878,534	I225V	probably benign	Het
Polr2f	A	G	15: 79,144,605		probably benign	Het
Prob1	A	G	18: 35,654,311	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,220,958	S132A	probably benign	Het
Rab19	T	A	6: 39,388,161	Y118*	probably null	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rptn	T	C	3: 93,397,138	S593P	possibly damaging	Het
Sept11	T	C	5: 93,156,924	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,016,148		probably benign	Het
Slc9c1	A	T	16: 45,601,961	I1130F	probably benign	Het
Slit3	C	T	11: 35,629,832	R599C	probably damaging	Het
Snx19	C	T	9: 30,433,366	P622L	probably damaging	Het
Sspo	T	C	6: 48,494,848	L50P	probably damaging	Het
St8sia1	A	T	6: 142,876,727	C137S	probably damaging	Het
Syt11	G	C	3: 88,761,952	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,790,809	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,777,790	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,210,225	W458R	probably damaging	Het
Tctex1d2	T	A	16: 32,422,933	M78K	probably benign	Het
Tecta	G	T	9: 42,359,301	T1237N	probably damaging	Het
Tet2	T	A	3: 133,487,290	D461V	probably damaging	Het
Tmco3	G	A	8: 13,318,866	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,884,812	M175K	probably benign	Het
Traf6	A	G	2: 101,696,739	H278R	probably benign	Het
Trerf1	T	A	17: 47,341,166		noncoding transcript	Het
Ttn	A	C	2: 76,746,644	V24635G	probably damaging	Het
Ush1c	A	T	7: 46,209,231	D544E	probably damaging	Het
Usp47	C	T	7: 112,086,100	T586M	probably damaging	Het
Vmn2r1	T	A	3: 64,081,742	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,677,508	W262R	probably damaging	Het
Wasf3	C	T	5: 146,466,959	A293V	probably benign	Het
Xrn2	A	G	2: 147,061,516	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,768,029	I10T	probably damaging	Het
Zfp747	A	T	7: 127,374,077	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,043,890	F266Y	probably damaging	Het

Other mutations in Plcg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Plcg1	APN	2	160757266	missense	probably damaging	1.00
IGL00885:Plcg1	APN	2	160758083	missense	probably benign	0.03
IGL01066:Plcg1	APN	2	160754398	missense	probably damaging	1.00
IGL01356:Plcg1	APN	2	160753893	missense	probably damaging	1.00
IGL01629:Plcg1	APN	2	160758010	missense	possibly damaging	0.69
IGL01732:Plcg1	APN	2	160747779	missense	probably damaging	0.97
IGL01754:Plcg1	APN	2	160761433	missense	probably damaging	1.00
IGL02195:Plcg1	APN	2	160753926	missense	possibly damaging	0.83
IGL02371:Plcg1	APN	2	160753507	missense	probably damaging	0.99
IGL02671:Plcg1	APN	2	160755752	nonsense	probably null
IGL03096:Plcg1	APN	2	160757206	splice site	probably benign
IGL03129:Plcg1	APN	2	160774526	critical splice acceptor site	probably null
IGL03139:Plcg1	APN	2	160748129	critical splice donor site	probably null
IGL03211:Plcg1	APN	2	160759691	missense	possibly damaging	0.82
suscepit	UTSW	2	160753602	splice site	probably null
IGL03047:Plcg1	UTSW	2	160754879	missense	probably damaging	1.00
R0098:Plcg1	UTSW	2	160732000	missense	probably damaging	1.00
R0390:Plcg1	UTSW	2	160752366	missense	probably damaging	1.00
R0413:Plcg1	UTSW	2	160761429	missense	probably damaging	1.00
R0650:Plcg1	UTSW	2	160753363	splice site	probably benign
R0679:Plcg1	UTSW	2	160756910	missense	probably damaging	1.00
R0709:Plcg1	UTSW	2	160751778	splice site	probably null
R1719:Plcg1	UTSW	2	160753743	missense	probably null	0.94
R1721:Plcg1	UTSW	2	160731920	missense	probably damaging	0.99
R1978:Plcg1	UTSW	2	160752578	splice site	probably null
R2277:Plcg1	UTSW	2	160755805	missense	possibly damaging	0.48
R2698:Plcg1	UTSW	2	160761463	missense	possibly damaging	0.90
R3832:Plcg1	UTSW	2	160754437	missense	possibly damaging	0.95
R4094:Plcg1	UTSW	2	160747841	missense	probably damaging	0.98
R4260:Plcg1	UTSW	2	160751707	critical splice donor site	probably null
R4622:Plcg1	UTSW	2	160747768	splice site	probably benign
R4837:Plcg1	UTSW	2	160750986	missense	probably benign	0.00
R4942:Plcg1	UTSW	2	160753589	splice site	probably null
R5514:Plcg1	UTSW	2	160753355	critical splice donor site	probably null
R5647:Plcg1	UTSW	2	160751668	missense	probably benign	0.45
R5929:Plcg1	UTSW	2	160753602	splice site	probably null
R6303:Plcg1	UTSW	2	160761463	missense	possibly damaging	0.90
R6304:Plcg1	UTSW	2	160761463	missense	possibly damaging	0.90
R6471:Plcg1	UTSW	2	160753710	missense	probably benign	0.10
R6500:Plcg1	UTSW	2	160754567	missense	probably damaging	1.00
R7017:Plcg1	UTSW	2	160758097	missense	probably damaging	1.00
R7113:Plcg1	UTSW	2	160748283	missense	possibly damaging	0.78
R7137:Plcg1	UTSW	2	160753926	missense	possibly damaging	0.83
R7155:Plcg1	UTSW	2	160754380	missense	probably damaging	1.00
R7211:Plcg1	UTSW	2	160731874	missense	probably benign	0.02
R7777:Plcg1	UTSW	2	160754603	missense	possibly damaging	0.89
R7918:Plcg1	UTSW	2	160753665	missense	probably damaging	1.00
R7934:Plcg1	UTSW	2	160774578	missense	possibly damaging	0.53
R8309:Plcg1	UTSW	2	160753933	missense	probably benign	0.00
R8344:Plcg1	UTSW	2	160747896	missense	probably benign	0.00
R8377:Plcg1	UTSW	2	160754922	missense	probably damaging	1.00
R8524:Plcg1	UTSW	2	160761467	critical splice donor site	probably null
R8708:Plcg1	UTSW	2	160754553	splice site	probably benign
R8831:Plcg1	UTSW	2	160747812	missense	probably benign	0.02
R8936:Plcg1	UTSW	2	160748066	missense	probably benign	0.02
R9414:Plcg1	UTSW	2	160761356	missense	possibly damaging	0.80
R9466:Plcg1	UTSW	2	160754600	missense	probably benign
R9608:Plcg1	UTSW	2	160755751	missense	probably benign	0.02
R9755:Plcg1	UTSW	2	160731860	missense	probably benign	0.27
Z1176:Plcg1	UTSW	2	160758127	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTTTGACCGCTACCAAGAAGAC -3'
(R):5'- GCCTCTTCTCAGCTAAGGTAAAGCC -3'

Sequencing Primer
(F):5'- ATTCCGCTTGAAGACCCTGAG -3'
(R):5'- CCTGGGTAGAAGAGAAGTTACCG -3'

Posted On

2014-05-23