Mutagenetix > Incidental Mutation

Incidental Mutation 'R6142:Plcg2'

488628

Institutional Source

Beutler Lab

Gene Symbol

Plcg2

Ensembl Gene

ENSMUSG00000034330

Gene Name

phospholipase C, gamma 2

Synonyms

Plcg-2, PLCgamma2

MMRRC Submission

044289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118225030-118361881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118312010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 434 (T434K)

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: T434K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: T434K

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

0.1327

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,496,303 (GRCm39)	M579V	probably benign	Het
Agtr1b	T	C	3: 20,370,558 (GRCm39)	D16G	probably benign	Het
Akap12	C	A	10: 4,263,740 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,438,456 (GRCm39)	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,234,328 (GRCm39)	D8G	probably damaging	Het
AW551984	G	T	9: 39,508,410 (GRCm39)	L369I	probably benign	Het
Bmp8b	A	T	4: 123,009,043 (GRCm39)	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,860,540 (GRCm39)	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,230,837 (GRCm39)	V377I	probably benign	Het
Col25a1	T	A	3: 130,376,978 (GRCm39)		probably benign	Het
Crocc2	C	G	1: 93,118,201 (GRCm39)	Q375E	possibly damaging	Het
Ganc	T	C	2: 120,261,218 (GRCm39)		probably null	Het
Gm28168	C	A	1: 117,875,678 (GRCm39)	D102E	probably benign	Het
Gm8212	T	C	14: 44,438,684 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,709,024 (GRCm39)	T53A	probably benign	Het
Hipk4	G	A	7: 27,228,590 (GRCm39)	V347M	probably damaging	Het
Hmgxb3	T	C	18: 61,269,309 (GRCm39)	E991G	probably benign	Het
Hyal1	G	A	9: 107,456,573 (GRCm39)	R420H	probably benign	Het
Il5	G	A	11: 53,611,805 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,569,704 (GRCm39)	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,362,817 (GRCm39)	K759*	probably null	Het
Lnpep	A	G	17: 17,786,943 (GRCm39)		probably null	Het
Lrch1	T	C	14: 75,184,940 (GRCm39)	E54G	probably damaging	Het
Msl3l2	A	G	10: 55,991,461 (GRCm39)	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,963,531 (GRCm39)	L339P	probably damaging	Het
Nfe2l2	T	C	2: 75,509,761 (GRCm39)	I20V	probably damaging	Het
Pgm5	A	C	19: 24,801,772 (GRCm39)	I152S	probably damaging	Het
Prrc2c	T	C	1: 162,537,956 (GRCm39)	E558G	unknown	Het
Ranbp3	T	C	17: 56,993,018 (GRCm39)	V12A	probably benign	Het
Rgsl1	A	G	1: 153,687,984 (GRCm39)	V635A	probably benign	Het
Rpap2	T	C	5: 107,746,164 (GRCm39)	V14A	probably benign	Het
Rxrg	G	T	1: 167,460,191 (GRCm39)	A341S	possibly damaging	Het
Sbf2	A	G	7: 109,948,182 (GRCm39)	S1177P	probably damaging	Het
Sema6a	T	C	18: 47,414,266 (GRCm39)	T498A	probably benign	Het
Slc13a4	G	A	6: 35,278,718 (GRCm39)	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,692,902 (GRCm39)	D174V	probably benign	Het
Spart	T	G	3: 55,024,669 (GRCm39)	V88G	probably damaging	Het
Tanc1	A	T	2: 59,663,566 (GRCm39)	R1108*	probably null	Het
Tas2r140	C	T	6: 133,032,698 (GRCm39)	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,940,373 (GRCm39)	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,368 (GRCm39)	A99S	probably benign	Het
Tnk2	T	A	16: 32,488,917 (GRCm39)	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,591,460 (GRCm39)	H20L	probably benign	Het
Tram1l1	T	C	3: 124,115,092 (GRCm39)	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,240,763 (GRCm39)	I117L	probably benign	Het
Zfp148	T	C	16: 33,315,829 (GRCm39)	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,395,311 (GRCm39)	E425D	probably benign	Het
Zfp773	T	C	7: 7,135,481 (GRCm39)	T372A	probably benign	Het

Other mutations in Plcg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Plcg2	APN	8	118,282,810 (GRCm39)	missense	possibly damaging	0.89
IGL00911:Plcg2	APN	8	118,313,254 (GRCm39)	missense	probably benign	0.17
IGL00952:Plcg2	APN	8	118,333,956 (GRCm39)	missense	probably benign
IGL01115:Plcg2	APN	8	118,284,068 (GRCm39)	missense	probably damaging	1.00
IGL01326:Plcg2	APN	8	118,300,738 (GRCm39)	splice site	probably benign
IGL01357:Plcg2	APN	8	118,340,900 (GRCm39)	splice site	probably benign
IGL01705:Plcg2	APN	8	118,308,401 (GRCm39)	missense	probably damaging	1.00
IGL01755:Plcg2	APN	8	118,347,980 (GRCm39)	missense	possibly damaging	0.48
IGL01828:Plcg2	APN	8	118,316,972 (GRCm39)	missense	probably damaging	1.00
IGL02307:Plcg2	APN	8	118,306,635 (GRCm39)	critical splice donor site	probably null
IGL02345:Plcg2	APN	8	118,311,919 (GRCm39)	missense	probably damaging	0.99
IGL02448:Plcg2	APN	8	118,333,960 (GRCm39)	missense	probably benign
IGL02587:Plcg2	APN	8	118,284,852 (GRCm39)	missense	possibly damaging	0.80
IGL02646:Plcg2	APN	8	118,330,622 (GRCm39)	missense	possibly damaging	0.88
IGL03409:Plcg2	APN	8	118,310,234 (GRCm39)	missense	probably damaging	0.96
Ctenophore	UTSW	8	118,284,057 (GRCm39)	missense	probably damaging	0.98
Porifera	UTSW	8	118,306,585 (GRCm39)	missense	possibly damaging	0.79
Poseidon	UTSW	8	118,341,977 (GRCm39)	missense	probably damaging	1.00
Poseidon2	UTSW	8	118,304,613 (GRCm39)	missense	possibly damaging	0.80
queen	UTSW	8	118,308,446 (GRCm39)	missense	probably benign	0.00
Seahorse	UTSW	8	118,316,574 (GRCm39)	splice site	probably null
Teleost	UTSW	8	118,310,288 (GRCm39)	missense	probably damaging	1.00
Theseus	UTSW	8	118,323,071 (GRCm39)	missense	probably damaging	0.99
trident	UTSW	8	118,339,717 (GRCm39)	missense	probably benign	0.00
R0172:Plcg2	UTSW	8	118,306,521 (GRCm39)	missense	probably benign	0.00
R0194:Plcg2	UTSW	8	118,300,136 (GRCm39)	splice site	probably benign
R0410:Plcg2	UTSW	8	118,342,112 (GRCm39)	missense	probably damaging	0.98
R0462:Plcg2	UTSW	8	118,312,044 (GRCm39)	missense	probably benign	0.06
R0494:Plcg2	UTSW	8	118,282,843 (GRCm39)	missense	probably damaging	1.00
R0522:Plcg2	UTSW	8	118,341,027 (GRCm39)	splice site	probably null
R0612:Plcg2	UTSW	8	118,300,104 (GRCm39)	missense	probably benign	0.01
R1239:Plcg2	UTSW	8	118,282,783 (GRCm39)	missense	probably benign
R1367:Plcg2	UTSW	8	118,341,977 (GRCm39)	missense	probably damaging	1.00
R1608:Plcg2	UTSW	8	118,340,974 (GRCm39)	missense	possibly damaging	0.89
R1756:Plcg2	UTSW	8	118,319,447 (GRCm39)	missense	probably benign	0.02
R2176:Plcg2	UTSW	8	118,339,733 (GRCm39)	missense	probably damaging	1.00
R3500:Plcg2	UTSW	8	118,339,717 (GRCm39)	missense	probably benign	0.00
R4043:Plcg2	UTSW	8	118,339,717 (GRCm39)	missense	probably benign	0.00
R4654:Plcg2	UTSW	8	118,231,054 (GRCm39)	missense	probably benign
R4883:Plcg2	UTSW	8	118,333,872 (GRCm39)	nonsense	probably null
R4932:Plcg2	UTSW	8	118,333,822 (GRCm39)	missense	probably benign	0.05
R5080:Plcg2	UTSW	8	118,316,742 (GRCm39)	missense	probably benign	0.10
R5226:Plcg2	UTSW	8	118,304,613 (GRCm39)	missense	possibly damaging	0.80
R5264:Plcg2	UTSW	8	118,361,532 (GRCm39)	missense	possibly damaging	0.95
R5298:Plcg2	UTSW	8	118,331,988 (GRCm39)	missense	probably benign
R5473:Plcg2	UTSW	8	118,361,140 (GRCm39)	missense	probably benign
R5555:Plcg2	UTSW	8	118,339,734 (GRCm39)	nonsense	probably null
R5557:Plcg2	UTSW	8	118,313,296 (GRCm39)	missense	probably damaging	0.99
R5805:Plcg2	UTSW	8	118,325,234 (GRCm39)	critical splice donor site	probably null
R5826:Plcg2	UTSW	8	118,337,583 (GRCm39)	missense	probably benign	0.19
R5871:Plcg2	UTSW	8	118,230,956 (GRCm39)	missense	probably damaging	1.00
R5894:Plcg2	UTSW	8	118,231,088 (GRCm39)	missense	probably damaging	0.99
R6609:Plcg2	UTSW	8	118,294,909 (GRCm39)	missense	probably benign	0.31
R6684:Plcg2	UTSW	8	118,323,071 (GRCm39)	missense	probably damaging	0.99
R6710:Plcg2	UTSW	8	118,284,086 (GRCm39)	missense	probably benign	0.05
R6931:Plcg2	UTSW	8	118,284,058 (GRCm39)	missense	probably benign	0.24
R6946:Plcg2	UTSW	8	118,230,929 (GRCm39)	missense	probably benign
R7036:Plcg2	UTSW	8	118,323,045 (GRCm39)	missense	probably benign
R7070:Plcg2	UTSW	8	118,323,045 (GRCm39)	missense	probably benign
R7072:Plcg2	UTSW	8	118,316,574 (GRCm39)	splice site	probably null
R7214:Plcg2	UTSW	8	118,310,288 (GRCm39)	missense	probably damaging	1.00
R7351:Plcg2	UTSW	8	118,317,049 (GRCm39)	missense	possibly damaging	0.95
R7393:Plcg2	UTSW	8	118,306,564 (GRCm39)	missense	possibly damaging	0.90
R7443:Plcg2	UTSW	8	118,231,028 (GRCm39)	missense	probably benign	0.00
R7513:Plcg2	UTSW	8	118,306,592 (GRCm39)	missense	probably damaging	0.99
R7609:Plcg2	UTSW	8	118,284,852 (GRCm39)	missense	probably benign	0.01
R8134:Plcg2	UTSW	8	118,284,057 (GRCm39)	missense	probably damaging	0.98
R8399:Plcg2	UTSW	8	118,323,101 (GRCm39)	missense	probably damaging	1.00
R8701:Plcg2	UTSW	8	118,308,416 (GRCm39)	missense	probably damaging	1.00
R8774:Plcg2	UTSW	8	118,306,585 (GRCm39)	missense	possibly damaging	0.79
R8774-TAIL:Plcg2	UTSW	8	118,306,585 (GRCm39)	missense	possibly damaging	0.79
R8938:Plcg2	UTSW	8	118,231,114 (GRCm39)	critical splice donor site	probably null
R9003:Plcg2	UTSW	8	118,342,002 (GRCm39)	missense
R9286:Plcg2	UTSW	8	118,331,976 (GRCm39)	missense	probably benign	0.19
R9318:Plcg2	UTSW	8	118,323,107 (GRCm39)	missense	probably benign
RF008:Plcg2	UTSW	8	118,300,263 (GRCm39)	splice site	probably null
X0027:Plcg2	UTSW	8	118,282,722 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAATGATGAAAGGTTCCTGG -3'
(R):5'- GAACTGCTCCTACCAAGGTC -3'

Sequencing Primer
(F):5'- CAATGATGAAAGGTTCCTGGATCTTG -3'
(R):5'- TATATCATCCCCATTACCAGAGGGG -3'

Posted On

2017-10-10