Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Plcg1'

557194

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

045226-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160573230-160617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160596300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 632 (L632P)

Ref Sequence

ENSEMBL: ENSMUSP00000099404 (fasta)

Gene Model

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

AlphaFold

Q62077

Predicted Effect

probably damaging
Transcript: ENSMUST00000103115
AA Change: L632P

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

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: L632P

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: L632P

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

SMART Domains

Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: L632P

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	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
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
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'- AAGCTTCTTTGGAGAATGGCC -3'
(R):5'- CGTGGTACCACCTGAAAACC -3'

Sequencing Primer
(F):5'- GAGAATGGCCTCCCTTTTTGAAATG -3'
(R):5'- ACCAACAGAGTTAGGCCCTGG -3'

Posted On

2019-06-26