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

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

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

160573230-160617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160590008 bp (GRCm39)

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: 104,565,472 (GRCm39)		probably benign	Het
Ak2	C	T	4: 128,901,556 (GRCm39)	P159L	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,498,248 (GRCm39)	L99P	probably damaging	Het
Anxa8	T	A	14: 33,811,547 (GRCm39)	M34K	probably damaging	Het
Axl	T	G	7: 25,460,191 (GRCm39)	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,271,299 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,095 (GRCm39)	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,190,916 (GRCm39)	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,208,209 (GRCm39)	S746T	possibly damaging	Het
Cep120	T	C	18: 53,860,801 (GRCm39)	M210V	probably benign	Het
Chga	C	T	12: 102,527,696 (GRCm39)	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,054,961 (GRCm39)	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,141,469 (GRCm39)	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,724,296 (GRCm39)		probably null	Het
Copz2	T	C	11: 96,744,301 (GRCm39)	V71A	probably benign	Het
Dennd3	G	T	15: 73,436,977 (GRCm39)	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,706,238 (GRCm39)	T56A	probably damaging	Het
Dnah17	G	A	11: 117,961,315 (GRCm39)	T2557I	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dynlt2b	T	A	16: 32,241,751 (GRCm39)	M78K	probably benign	Het
Eif3b	T	C	5: 140,411,077 (GRCm39)	I176T	probably damaging	Het
Eif4b	T	A	15: 101,998,497 (GRCm39)	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,668,134 (GRCm39)	Y7C	probably damaging	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Epg5	T	A	18: 78,059,030 (GRCm39)	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,964,476 (GRCm39)	E1222V	probably benign	Het
Fhdc1	T	A	3: 84,353,483 (GRCm39)	I581F	possibly damaging	Het
Fhip2b	C	A	14: 70,831,438 (GRCm39)	G32V	probably damaging	Het
Fstl4	A	C	11: 52,959,478 (GRCm39)	Q173P	probably damaging	Het
Gm266	A	G	12: 111,451,913 (GRCm39)	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,721,628 (GRCm39)		probably benign	Het
Gtf2h3	A	G	5: 124,728,419 (GRCm39)	Q156R	probably benign	Het
H2-T23	T	C	17: 36,342,545 (GRCm39)	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,332,424 (GRCm39)	A68E	probably benign	Het
Kcna7	A	T	7: 45,058,930 (GRCm39)	I406F	possibly damaging	Het
Lbr	A	G	1: 181,647,481 (GRCm39)	I432T	probably benign	Het
Lnx1	A	T	5: 74,768,577 (GRCm39)		probably null	Het
Lrrcc1	T	A	3: 14,602,423 (GRCm39)	I50N	probably damaging	Het
Lss	T	C	10: 76,375,678 (GRCm39)	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,011,336 (GRCm39)	F212L	probably benign	Het
Methig1	A	C	15: 100,251,130 (GRCm39)	I14L	probably benign	Het
Mrpl41	A	T	2: 24,864,636 (GRCm39)	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,043,982 (GRCm39)	D83Y	probably damaging	Het
Myh1	T	A	11: 67,101,292 (GRCm39)		probably benign	Het
Myo1e	T	C	9: 70,283,806 (GRCm39)	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,091,853 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,420 (GRCm39)	N302K	probably benign	Het
Nt5e	T	A	9: 88,210,082 (GRCm39)	M115K	possibly damaging	Het
Nup153	A	T	13: 46,847,261 (GRCm39)	C723S	probably damaging	Het
Obox6	G	A	7: 15,568,502 (GRCm39)	P125S	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2t48	A	T	11: 58,420,342 (GRCm39)	S157T	possibly damaging	Het
Or52n3	C	T	7: 104,530,721 (GRCm39)	T269I	probably benign	Het
Or5an11	T	G	19: 12,246,365 (GRCm39)	I257S	possibly damaging	Het
Or8i2	A	G	2: 86,852,607 (GRCm39)	F94L	probably damaging	Het
Pcdh1	A	C	18: 38,336,085 (GRCm39)	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,467,640 (GRCm39)	D187V	probably damaging	Het
Pclo	A	G	5: 14,727,001 (GRCm39)		probably benign	Het
Pdcl3	T	A	1: 39,034,836 (GRCm39)	I80K	possibly damaging	Het
Pde12	A	T	14: 26,390,022 (GRCm39)	V229E	probably benign	Het
Plxnb1	A	G	9: 108,930,125 (GRCm39)		probably null	Het
Pnpla1	A	G	17: 29,097,508 (GRCm39)	I225V	probably benign	Het
Polr2f	A	G	15: 79,028,805 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,787,364 (GRCm39)	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,110,970 (GRCm39)	S132A	probably benign	Het
Rab19	T	A	6: 39,365,095 (GRCm39)	Y118*	probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptn	T	C	3: 93,304,445 (GRCm39)	S593P	possibly damaging	Het
Septin11	T	C	5: 93,304,783 (GRCm39)	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,173,491 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,422,324 (GRCm39)	I1130F	probably benign	Het
Slit3	C	T	11: 35,520,659 (GRCm39)	R599C	probably damaging	Het
Snx19	C	T	9: 30,344,662 (GRCm39)	P622L	probably damaging	Het
Sspo	T	C	6: 48,471,782 (GRCm39)	L50P	probably damaging	Het
St8sia1	A	T	6: 142,822,453 (GRCm39)	C137S	probably damaging	Het
Syt11	G	C	3: 88,669,259 (GRCm39)	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,621,153 (GRCm39)	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,754,753 (GRCm39)	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,046,130 (GRCm39)	W458R	probably damaging	Het
Tecta	G	T	9: 42,270,597 (GRCm39)	T1237N	probably damaging	Het
Tet2	T	A	3: 133,193,051 (GRCm39)	D461V	probably damaging	Het
Tmco3	G	A	8: 13,368,866 (GRCm39)	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,938,961 (GRCm39)	M175K	probably benign	Het
Traf6	A	G	2: 101,527,084 (GRCm39)	H278R	probably benign	Het
Trerf1	T	A	17: 47,652,092 (GRCm39)		noncoding transcript	Het
Ttn	A	C	2: 76,576,988 (GRCm39)	V24635G	probably damaging	Het
Ush1c	A	T	7: 45,858,655 (GRCm39)	D544E	probably damaging	Het
Usp47	C	T	7: 111,685,307 (GRCm39)	T586M	probably damaging	Het
Vmn2r1	T	A	3: 63,989,163 (GRCm39)	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,897,770 (GRCm39)	W262R	probably damaging	Het
Wasf3	C	T	5: 146,403,769 (GRCm39)	A293V	probably benign	Het
Xrn2	A	G	2: 146,903,436 (GRCm39)	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,652,230 (GRCm39)	I10T	probably damaging	Het
Zfp747	A	T	7: 126,973,249 (GRCm39)	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,020,824 (GRCm39)	F266Y	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
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'- GGACTTTGACCGCTACCAAGAAGAC -3'
(R):5'- GCCTCTTCTCAGCTAAGGTAAAGCC -3'

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

Posted On

2014-05-23