Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02307:Plcg2'

287670

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02307

Quality Score

Status

Chromosome

Chromosomal Location

118225030-118361881 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 118306635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000081232

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Ankrd28	A	G	14: 31,455,665 (GRCm39)	C417R	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Bdp1	C	A	13: 100,229,946 (GRCm39)	G256V	probably damaging	Het
Cald1	A	G	6: 34,730,390 (GRCm39)	K252E	probably damaging	Het
Ccdc141	T	C	2: 76,859,686 (GRCm39)	E985G	probably damaging	Het
Cdc23	A	G	18: 34,774,442 (GRCm39)	I279T	possibly damaging	Het
Col16a1	C	T	4: 129,952,802 (GRCm39)	P416L	probably damaging	Het
Coro1a	T	C	7: 126,300,736 (GRCm39)	D197G	probably damaging	Het
Ctnnd2	C	T	15: 30,647,357 (GRCm39)	T351I	possibly damaging	Het
Fam76b	A	G	9: 13,755,332 (GRCm39)	N313S	probably damaging	Het
Fbxw20	C	A	9: 109,062,601 (GRCm39)	W75L	possibly damaging	Het
Gjd2	T	C	2: 113,842,394 (GRCm39)	T28A	possibly damaging	Het
Glyctk	A	C	9: 106,032,963 (GRCm39)	L350R	possibly damaging	Het
Gm20726	A	T	14: 54,870,060 (GRCm39)	V237D	probably damaging	Het
Gm57858	T	C	3: 36,073,016 (GRCm39)	K422R	possibly damaging	Het
Gpr22	C	A	12: 31,758,739 (GRCm39)	C461F	possibly damaging	Het
Grhl2	A	G	15: 37,288,532 (GRCm39)	T279A	probably damaging	Het
Gstm3	G	A	3: 107,874,929 (GRCm39)	R108C	probably damaging	Het
Haus6	T	C	4: 86,502,072 (GRCm39)	T600A	possibly damaging	Het
Htra4	G	A	8: 25,523,710 (GRCm39)	A285V	probably damaging	Het
Igkv14-100	C	T	6: 68,496,349 (GRCm39)	P81S	probably damaging	Het
Kif24	T	G	4: 41,395,274 (GRCm39)	Q533P	probably benign	Het
Klhl1	A	T	14: 96,438,809 (GRCm39)	N496K	possibly damaging	Het
Lama3	G	T	18: 12,714,840 (GRCm39)	R1667L	probably benign	Het
Lct	T	A	1: 128,214,327 (GRCm39)	H1815L	possibly damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Mrpl15	A	T	1: 4,854,176 (GRCm39)	H86Q	possibly damaging	Het
Myo10	C	T	15: 25,776,401 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,229,201 (GRCm39)	L893P	probably damaging	Het
Or4n4b	A	C	14: 50,536,295 (GRCm39)	I157S	probably damaging	Het
Or51a8	A	T	7: 102,550,086 (GRCm39)	N171Y	probably benign	Het
Ovol1	T	A	19: 5,603,643 (GRCm39)	D86V	possibly damaging	Het
Pacs2	T	A	12: 113,034,393 (GRCm39)	M851K	probably damaging	Het
Pde1a	A	T	2: 79,736,412 (GRCm39)	M39K	possibly damaging	Het
Pdpn	T	C	4: 143,000,550 (GRCm39)	H94R	possibly damaging	Het
Pzp	A	T	6: 128,466,049 (GRCm39)	Y1210*	probably null	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Ros1	A	T	10: 52,004,534 (GRCm39)	S1008T	possibly damaging	Het
Rps18-ps6	G	T	13: 97,896,871 (GRCm39)	Q76K	probably benign	Het
Sis	A	T	3: 72,819,167 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,992,986 (GRCm39)		probably null	Het
Srbd1	A	G	17: 86,433,616 (GRCm39)	L327P	probably damaging	Het
Steap3	A	T	1: 120,169,390 (GRCm39)	Y264*	probably null	Het
Swap70	A	G	7: 109,880,501 (GRCm39)	E572G	probably benign	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,901 (GRCm39)	S127P	probably damaging	Het
Usf1	T	A	1: 171,243,314 (GRCm39)	S30R	probably damaging	Het
Ush1c	A	G	7: 45,846,612 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,625,809 (GRCm39)	L124*	probably null	Het
Vmn2r75	T	C	7: 85,814,974 (GRCm39)	N173S	probably benign	Het
Zic2	T	C	14: 122,714,046 (GRCm39)	V320A	possibly 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
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
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

Posted On

2015-04-16