Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01705:Plcg2'

104555

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 #

IGL01705

Quality Score

Status

Chromosome

Chromosomal Location

118225030-118361881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118308401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 331 (L331P)

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: L331P

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

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: L331P

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,166,038 (GRCm39)	T1077A	possibly damaging	Het
Akap13	T	C	7: 75,396,515 (GRCm39)	V2504A	possibly damaging	Het
Anks3	A	T	16: 4,765,587 (GRCm39)	W172R	probably benign	Het
Asap2	T	A	12: 21,299,369 (GRCm39)	N633K	possibly damaging	Het
Astn1	A	T	1: 158,331,883 (GRCm39)	S326C	probably damaging	Het
Cachd1	A	G	4: 100,840,736 (GRCm39)	K900E	possibly damaging	Het
Cd5	A	T	19: 10,703,659 (GRCm39)		probably null	Het
D130043K22Rik	T	A	13: 25,041,924 (GRCm39)	N284K	probably benign	Het
Dtna	C	T	18: 23,678,788 (GRCm39)	A38V	probably damaging	Het
Eny2	C	A	15: 44,295,831 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,779,254 (GRCm39)	Q930R	possibly damaging	Het
Igkv4-73	A	T	6: 69,174,709 (GRCm39)		noncoding transcript	Het
Lama2	A	T	10: 27,065,270 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,081,042 (GRCm39)		probably null	Het
Neto2	T	C	8: 86,367,632 (GRCm39)	K371E	probably damaging	Het
Or8g52	T	C	9: 39,630,877 (GRCm39)	M118T	possibly damaging	Het
Paxbp1	A	G	16: 90,813,876 (GRCm39)	F834L	probably benign	Het
Paxip1	A	T	5: 27,953,857 (GRCm39)	S946R	probably damaging	Het
Pclo	A	G	5: 14,727,879 (GRCm39)		probably benign	Het
Reep1	A	G	6: 71,750,272 (GRCm39)	T95A	probably damaging	Het
Rfx2	A	G	17: 57,092,303 (GRCm39)	Y332H	possibly damaging	Het
Smchd1	A	T	17: 71,688,393 (GRCm39)	D1288E	probably damaging	Het
Spag17	A	G	3: 99,930,046 (GRCm39)	M582V	probably benign	Het
Susd1	A	G	4: 59,332,931 (GRCm39)		probably benign	Het
Syt9	T	G	7: 107,035,559 (GRCm39)	L192R	probably damaging	Het
Tlr6	T	C	5: 65,111,473 (GRCm39)	K478R	probably benign	Het
Tmem115	G	T	9: 107,412,403 (GRCm39)	L242F	probably benign	Het
Tmt1b	T	A	10: 128,794,731 (GRCm39)	I198F	probably benign	Het
Tnfaip1	T	C	11: 78,416,294 (GRCm39)	D263G	probably benign	Het
Ubqln3	T	A	7: 103,791,884 (GRCm39)	I69F	probably damaging	Het
Vps52	T	C	17: 34,185,042 (GRCm39)	L712P	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
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
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

2014-01-21