Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Plcg2'

669077

Institutional Source

Beutler Lab

Gene Symbol

Plcg2

Ensembl Gene

ENSMUSG00000034330

Gene Name

phospholipase C, gamma 2

Synonyms

Plcg-2, PLCgamma2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117498291-117635142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117581677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 336 (L336Q)

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 damaging
Transcript: ENSMUST00000081232
AA Change: L336Q

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

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: L336Q

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

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	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
R1756:Plcg2	UTSW	8	117592708	missense	probably benign	0.02
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
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'- CACATCTTATTGGTGGTTCTGGAC -3'
(R):5'- TTGCTCTGCATGGGGACTTC -3'

Sequencing Primer
(F):5'- GTTCTGGACCCAAGACCTCAG -3'
(R):5'- ATGGGGACTTCTCAGCCTGTC -3'

Posted On

2021-04-30