Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Plcg2'

194865

Institutional Source

Beutler Lab

Gene Symbol

Plcg2

Ensembl Gene

ENSMUSG00000034330

Gene Name

phospholipase C, gamma 2

Synonyms

Plcg-2, PLCgamma2

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117498291-117635142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117592708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 673 (K673E)

Ref Sequence

ENSEMBL: ENSMUSP00000079991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081232]

AlphaFold

Q8CIH5

PDB Structure

Crystal structure of the N-terminal SH2 domain of mouse phospholipase C-gamma 2 [X-RAY DIFFRACTION]
Solution structure of the SH3 domain from Phospholipase C, gamma 2 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000081232
AA Change: K673E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: K673E

Domain	Start	End	E-Value	Type
PH	21	133	1.87e-4	SMART
PLCXc	312	456	2.29e-96	SMART
low complexity region	461	476	N/A	INTRINSIC
PDB:2K2J\|A	478	516	6e-17	PDB
SH2	530	623	2.24e-30	SMART
SH2	644	726	1.16e-28	SMART
SH3	772	828	3.12e-18	SMART
PH	789	910	4.31e0	SMART
PLCYc	930	1044	1.18e-66	SMART
C2	1062	1167	1.41e-15	SMART

Meta Mutation Damage Score

0.1374

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882		noncoding transcript	Het
Acin1	A	G	14: 54,665,204	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013	I53R	probably benign	Het
Ccdc105	T	A	10: 78,747,197	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380	S344A	probably benign	Het
Dner	C	T	1: 84,445,590	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695		probably null	Het
Eps15	T	G	4: 109,312,918	L139*	probably null	Het
Fam193a	T	A	5: 34,466,292	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239		probably benign	Het
Gpr155	T	C	2: 73,367,577	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123		probably benign	Het
Heatr1	G	T	13: 12,396,460	A61S	probably benign	Het
Helb	G	T	10: 120,094,242	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621	K97N	unknown	Het
Lcor	T	C	19: 41,559,266	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730		probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1008	A	G	2: 85,690,083	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727	V546D	possibly damaging	Het
Pld4	T	G	12: 112,763,392		probably null	Het
Plek	A	T	11: 16,992,901	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763		probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552	M574I	probably benign	Het
Slk	T	C	19: 47,622,677	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113		probably null	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725		probably null	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334		probably benign	Het
Unc80	A	G	1: 66,639,248	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424	T205A	probably benign	Het

Other mutations in Plcg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Plcg2	APN	8	117556071	missense	possibly damaging	0.89
IGL00911:Plcg2	APN	8	117586515	missense	probably benign	0.17
IGL00952:Plcg2	APN	8	117607217	missense	probably benign
IGL01115:Plcg2	APN	8	117557329	missense	probably damaging	1.00
IGL01326:Plcg2	APN	8	117573999	splice site	probably benign
IGL01357:Plcg2	APN	8	117614161	splice site	probably benign
IGL01705:Plcg2	APN	8	117581662	missense	probably damaging	1.00
IGL01755:Plcg2	APN	8	117621241	missense	possibly damaging	0.48
IGL01828:Plcg2	APN	8	117590233	missense	probably damaging	1.00
IGL02307:Plcg2	APN	8	117579896	critical splice donor site	probably null
IGL02345:Plcg2	APN	8	117585180	missense	probably damaging	0.99
IGL02448:Plcg2	APN	8	117607221	missense	probably benign
IGL02587:Plcg2	APN	8	117558113	missense	possibly damaging	0.80
IGL02646:Plcg2	APN	8	117603883	missense	possibly damaging	0.88
IGL03409:Plcg2	APN	8	117583495	missense	probably damaging	0.96
Ctenophore	UTSW	8	117557318	missense	probably damaging	0.98
Porifera	UTSW	8	117579846	missense	possibly damaging	0.79
Poseidon	UTSW	8	117615238	missense	probably damaging	1.00
Poseidon2	UTSW	8	117577874	missense	possibly damaging	0.80
queen	UTSW	8	117581707	missense	probably benign	0.00
Seahorse	UTSW	8	117589835	splice site	probably null
Teleost	UTSW	8	117583549	missense	probably damaging	1.00
Theseus	UTSW	8	117596332	missense	probably damaging	0.99
trident	UTSW	8	117612978	missense	probably benign	0.00
R0172:Plcg2	UTSW	8	117579782	missense	probably benign	0.00
R0194:Plcg2	UTSW	8	117573397	splice site	probably benign
R0410:Plcg2	UTSW	8	117615373	missense	probably damaging	0.98
R0462:Plcg2	UTSW	8	117585305	missense	probably benign	0.06
R0494:Plcg2	UTSW	8	117556104	missense	probably damaging	1.00
R0522:Plcg2	UTSW	8	117614288	splice site	probably null
R0612:Plcg2	UTSW	8	117573365	missense	probably benign	0.01
R1239:Plcg2	UTSW	8	117556044	missense	probably benign
R1367:Plcg2	UTSW	8	117615238	missense	probably damaging	1.00
R1608:Plcg2	UTSW	8	117614235	missense	possibly damaging	0.89
R2176:Plcg2	UTSW	8	117612994	missense	probably damaging	1.00
R3500:Plcg2	UTSW	8	117612978	missense	probably benign	0.00
R4043:Plcg2	UTSW	8	117612978	missense	probably benign	0.00
R4654:Plcg2	UTSW	8	117504315	missense	probably benign
R4883:Plcg2	UTSW	8	117607133	nonsense	probably null
R4932:Plcg2	UTSW	8	117607083	missense	probably benign	0.05
R5080:Plcg2	UTSW	8	117590003	missense	probably benign	0.10
R5226:Plcg2	UTSW	8	117577874	missense	possibly damaging	0.80
R5264:Plcg2	UTSW	8	117634793	missense	possibly damaging	0.95
R5298:Plcg2	UTSW	8	117605249	missense	probably benign
R5473:Plcg2	UTSW	8	117634401	missense	probably benign
R5555:Plcg2	UTSW	8	117612995	nonsense	probably null
R5557:Plcg2	UTSW	8	117586557	missense	probably damaging	0.99
R5805:Plcg2	UTSW	8	117598495	critical splice donor site	probably null
R5826:Plcg2	UTSW	8	117610844	missense	probably benign	0.19
R5871:Plcg2	UTSW	8	117504217	missense	probably damaging	1.00
R5894:Plcg2	UTSW	8	117504349	missense	probably damaging	0.99
R6142:Plcg2	UTSW	8	117585271	missense	probably benign
R6609:Plcg2	UTSW	8	117568170	missense	probably benign	0.31
R6684:Plcg2	UTSW	8	117596332	missense	probably damaging	0.99
R6710:Plcg2	UTSW	8	117557347	missense	probably benign	0.05
R6931:Plcg2	UTSW	8	117557319	missense	probably benign	0.24
R6946:Plcg2	UTSW	8	117504190	missense	probably benign
R7036:Plcg2	UTSW	8	117596306	missense	probably benign
R7070:Plcg2	UTSW	8	117596306	missense	probably benign
R7072:Plcg2	UTSW	8	117589835	splice site	probably null
R7214:Plcg2	UTSW	8	117583549	missense	probably damaging	1.00
R7351:Plcg2	UTSW	8	117590310	missense	possibly damaging	0.95
R7393:Plcg2	UTSW	8	117579825	missense	possibly damaging	0.90
R7443:Plcg2	UTSW	8	117504289	missense	probably benign	0.00
R7513:Plcg2	UTSW	8	117579853	missense	probably damaging	0.99
R7609:Plcg2	UTSW	8	117558113	missense	probably benign	0.01
R8134:Plcg2	UTSW	8	117557318	missense	probably damaging	0.98
R8399:Plcg2	UTSW	8	117596362	missense	probably damaging	1.00
R8701:Plcg2	UTSW	8	117581677	missense	probably damaging	1.00
R8774:Plcg2	UTSW	8	117579846	missense	possibly damaging	0.79
R8774-TAIL:Plcg2	UTSW	8	117579846	missense	possibly damaging	0.79
R8938:Plcg2	UTSW	8	117504375	critical splice donor site	probably null
R9003:Plcg2	UTSW	8	117615263	missense
R9286:Plcg2	UTSW	8	117605237	missense	probably benign	0.19
R9318:Plcg2	UTSW	8	117596368	missense	probably benign
RF008:Plcg2	UTSW	8	117573524	splice site	probably null
X0027:Plcg2	UTSW	8	117555983	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTGTGGCAGTTTCATCGTCAGC -3'
(R):5'- AGCACTTGCACCTATTACTGTGGAC -3'

Sequencing Primer
(F):5'- AGTTTCATCGTCAGCCCCAG -3'
(R):5'- TGTGGACTCACACAGTTCTG -3'

Posted On

2014-05-23