Mutagenetix > Incidental Mutation

Incidental Mutation 'R0679:Plcg1'

61720

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

038864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0679 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

160573230-160617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160598830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 842 (P842S)

Ref Sequence

ENSEMBL: ENSMUSP00000105088 (fasta)

Gene Model

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

AlphaFold

Q62077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000017077

Predicted Effect

probably damaging
Transcript: ENSMUST00000103115
AA Change: P842S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: P842S

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: P842S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: P842S

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: ENSMUST00000124652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133937

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

noncoding transcript
Transcript: ENSMUST00000147254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173061

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 91.4%

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,942,824 (GRCm39)	D1507N	probably damaging	Het
Cplane1	G	T	15: 8,252,606 (GRCm39)	V1943L	probably benign	Het
Cry2	A	G	2: 92,244,060 (GRCm39)	I371T	probably damaging	Het
L3mbtl3	T	A	10: 26,189,831 (GRCm39)	K478*	probably null	Het
Or5h26	G	A	16: 58,987,979 (GRCm39)	H176Y	probably damaging	Het
Ros1	T	C	10: 51,942,391 (GRCm39)	R2111G	possibly damaging	Het
Sox10	A	G	15: 79,040,788 (GRCm39)	S90P	probably benign	Het
Tbc1d32	A	C	10: 56,056,672 (GRCm39)	Y423D	probably damaging	Het
Utp15	A	T	13: 98,395,911 (GRCm39)	Y52N	probably benign	Het
Vps13b	T	G	15: 35,709,849 (GRCm39)	I1932S	possibly damaging	Het
Zfp457	A	T	13: 67,441,655 (GRCm39)	C211S	probably damaging	Het

Other mutations in Plcg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTTCACCAAGAGTGCCATCATCCAG -3'
(R):5'- TCATGACCAGCCAAGCATGACATAG -3'

Sequencing Primer
(F):5'- GCTGTCACTGAAAGCACTTG -3'
(R):5'- CTAGAGTGTAGCCACACAGG -3'

Posted On

2013-07-30