Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Plcg1'

545352

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160731300-160775760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160758097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 926 (I926F)

Ref Sequence

ENSEMBL: ENSMUSP00000105088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590]

AlphaFold

Q62077

Predicted Effect

probably damaging
Transcript: ENSMUST00000103115
AA Change: I926F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: I926F

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 damaging
Transcript: ENSMUST00000109462
AA Change: I926F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: I926F

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

probably benign
Transcript: ENSMUST00000143997

SMART Domains

Protein: ENSMUSP00000115181
Gene: ENSMUSG00000016933

Domain	Start	End	E-Value	Type
C2	1	104	3.15e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151590

SMART Domains

Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933

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

Meta Mutation Damage Score

0.3088

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 36,978,034		probably benign	Het
Acot3	A	T	12: 84,053,303		probably benign	Het
Add3	T	A	19: 53,233,853	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,976,304		probably null	Het
C530008M17Rik	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 76,856,948		probably benign	Het
Cacna1i	T	C	15: 80,380,470	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,095,858	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,366,061	Y112*	probably null	Het
Cyp2d40	A	T	15: 82,760,033	F297Y	unknown	Het
Ddx4	C	T	13: 112,601,488	V546I	probably damaging	Het
Dgkg	T	C	16: 22,572,713	M332V	probably benign	Het
Dnah12	T	C	14: 26,735,680	I867T	probably benign	Het
Dnah2	T	A	11: 69,491,547	K1246*	probably null	Het
Drd2	G	A	9: 49,400,829	V161I	probably benign	Het
Dsp	A	G	13: 38,186,707	D862G	probably benign	Het
Ephx4	T	C	5: 107,406,114	F10S	probably damaging	Het
Fabp9	C	A	3: 10,194,696	A76S	possibly damaging	Het
Fam198a	T	C	9: 121,965,986		probably null	Het
Fam46b	T	C	4: 133,486,234	S139P	possibly damaging	Het
Fat4	G	A	3: 38,891,543	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,618,320	S84P	unknown	Het
Fbxo40	T	C	16: 36,970,370	D126G	probably damaging	Het
Fpr1	C	T	17: 17,877,392	V112I	probably benign	Het
Frem2	T	C	3: 53,519,602	N2975S	probably benign	Het
Gm7945	T	C	14: 41,383,653	Y156C		Het
Gnpat	T	C	8: 124,863,275	V13A	probably benign	Het
Gpx5	G	A	13: 21,291,391	P55L	probably damaging	Het
Hbp1	A	G	12: 31,943,853	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,879,913	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,515,664	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,494,643	I484L	possibly damaging	Het
Kera	A	T	10: 97,609,077	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,329,724	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,908,708	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,272,962	E520K	probably benign	Het
Lrrc34	C	T	3: 30,645,316		probably null	Het
Lvrn	A	G	18: 46,850,678	T163A	probably benign	Het
Met	T	A	6: 17,491,287	L16*	probably null	Het
Mpzl2	G	T	9: 45,047,289	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,552,837	I47F	probably benign	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Mybphl	T	A	3: 108,374,838	V128E	probably damaging	Het
Nckap5	A	T	1: 126,102,661	D231E	probably damaging	Het
Olfr1000	T	A	2: 85,608,329	M194L	probably benign	Het
Orm1	T	A	4: 63,345,211	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,081,004	P954S	probably benign	Het
Pdzd8	G	T	19: 59,345,352	S79*	probably null	Het
Pdzd9	T	A	7: 120,663,002	H79L	probably benign	Het
Plec	A	T	15: 76,173,541	F4078L	probably damaging	Het
Plek	G	A	11: 17,052,220		probably benign	Het
Pogz	T	C	3: 94,854,024	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,358,800	D215E	probably benign	Het
Psg22	C	A	7: 18,724,441	S352R	probably benign	Het
Ptchd4	A	G	17: 42,502,735	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,448,337	N389K	probably benign	Het
Rdh1	A	G	10: 127,763,037	D129G	probably benign	Het
Rimbp3	A	G	16: 17,209,746	T345A	probably benign	Het
S100a14	T	C	3: 90,527,295		probably null	Het
Scamp1	T	A	13: 94,224,915	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Srf	T	C	17: 46,550,904	T383A	probably benign	Het
St6galnac5	T	C	3: 152,846,403	M176V	probably damaging	Het
St8sia1	C	A	6: 142,867,906	V177F	probably damaging	Het
Syt12	C	T	19: 4,460,867		probably null	Het
Tanc2	A	G	11: 105,923,108	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,847,550	I137V	probably benign	Het
Tenm2	T	A	11: 36,171,409	Y543F	probably damaging	Het
Tgfbr1	T	C	4: 47,410,728	I488T	probably damaging	Het
Tgm1	T	A	14: 55,704,941	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,224,415	D698V	probably damaging	Het
Tpra1	T	A	6: 88,908,312	I82N	probably damaging	Het
Ubr4	T	A	4: 139,393,090	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124	Y787C	probably damaging	Het
Znfx1	T	C	2: 167,048,534	S677G	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
R1727:Plcg1	UTSW	2	160748088	missense	probably benign	0.00
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
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'- TTTGAGCCAGTGTCTATGGC -3'
(R):5'- CCATCACAATCCTGTCTTGAGTTTG -3'

Sequencing Primer
(F):5'- CCCAGGGTTTGCATATCAGATACG -3'
(R):5'- GTTCTTTTGGGTGCCTTATCTAAG -3'

Posted On

2019-05-13