Mutagenetix > Incidental Mutation

Incidental Mutation 'R6946:Plcg2'

540891

Institutional Source

Beutler Lab

Gene Symbol

Plcg2

Ensembl Gene

ENSMUSG00000034330

Gene Name

phospholipase C, gamma 2

Synonyms

Plcg-2, PLCgamma2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6946 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

118225030-118361881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118230929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 4 (M4L)

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: M4L

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

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: M4L

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: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

100% (42/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Atp8a1	T	C	5: 67,779,968 (GRCm39)	T1142A	possibly damaging	Het
Atxn1l	G	T	8: 110,458,648 (GRCm39)	P538H	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Dap3	T	A	3: 88,845,523 (GRCm39)		probably benign	Het
Dgki	C	A	6: 37,276,571 (GRCm39)	G105*	probably null	Het
Dnm3	T	C	1: 162,141,224 (GRCm39)	E345G	possibly damaging	Het
Fam120a	A	T	13: 49,034,496 (GRCm39)	S1039T	possibly damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Igll1	A	G	16: 16,678,920 (GRCm39)	V130A	probably damaging	Het
Ikzf2	T	A	1: 69,616,955 (GRCm39)	K137*	probably null	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Lrp1b	T	C	2: 40,587,451 (GRCm39)	I166V	probably benign	Het
Map3k1	C	T	13: 111,905,035 (GRCm39)	W213*	probably null	Het
Map3k12	A	G	15: 102,413,569 (GRCm39)	M134T	possibly damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Nop53	C	T	7: 15,672,283 (GRCm39)	R462Q	probably damaging	Het
Oog2	A	T	4: 143,923,034 (GRCm39)	D433V	possibly damaging	Het
Or5p76	T	A	7: 108,122,528 (GRCm39)	I210F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Or8k38	T	A	2: 86,487,932 (GRCm39)	Y290F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Pcdhb3	T	A	18: 37,435,672 (GRCm39)	L546Q	probably damaging	Het
Prss21	T	C	17: 24,087,138 (GRCm39)	S24P	possibly damaging	Het
Ryr3	T	C	2: 112,661,545 (GRCm39)	D1815G	probably damaging	Het
Scd4	A	G	19: 44,321,953 (GRCm39)	E8G	probably null	Het
Sec31b	T	C	19: 44,522,755 (GRCm39)	D79G	probably damaging	Het
Siah1a	G	T	8: 87,451,770 (GRCm39)	A238E	probably damaging	Het
Spag17	G	A	3: 99,911,999 (GRCm39)	E290K	possibly damaging	Het
Srl	T	C	16: 4,300,423 (GRCm39)	I883V	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Ttn	A	T	2: 76,580,199 (GRCm39)	W23565R	probably damaging	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Zfp112	A	T	7: 23,824,766 (GRCm39)	N245Y	probably damaging	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
R6142:Plcg2	UTSW	8	118,312,010 (GRCm39)	missense	probably benign
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
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'- CACCCAGACTTTATTTAAACCTGC -3'
(R):5'- AATCTTGTCTGCGGTCTTGC -3'

Sequencing Primer
(F):5'- AAACCTGCGCTCTCTAAGTGG -3'
(R):5'- GCGGTCTTGCTCCATGC -3'

Posted On

2018-11-28