Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03409:Plcg2'

421716

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 #

IGL03409

Quality Score

Status

Chromosome

Chromosomal Location

118225030-118361881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118310234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 362 (D362G)

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: D362G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: D362G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	T	8: 124,691,762 (GRCm39)	M401K	possibly damaging	Het
Ablim3	T	A	18: 61,978,922 (GRCm39)	H203L	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aox1	T	G	1: 58,393,588 (GRCm39)	D1249E	possibly damaging	Het
Astn2	T	C	4: 65,353,423 (GRCm39)	I1116V	possibly damaging	Het
Atad3a	T	C	4: 155,831,807 (GRCm39)	D489G	probably damaging	Het
Caln1	G	T	5: 130,646,719 (GRCm39)	G52C	probably damaging	Het
Clcn7	A	G	17: 25,374,359 (GRCm39)	T467A	probably damaging	Het
Col17a1	A	T	19: 47,654,979 (GRCm39)	I599N	possibly damaging	Het
Cul2	T	A	18: 3,429,593 (GRCm39)	H547Q	probably damaging	Het
Cxcl14	T	C	13: 56,440,320 (GRCm39)	T80A	probably damaging	Het
Dscaml1	T	A	9: 45,581,401 (GRCm39)	Y407N	probably damaging	Het
Edc4	T	A	8: 106,611,748 (GRCm39)	I108N	probably damaging	Het
Exoc2	T	C	13: 31,124,720 (GRCm39)		probably benign	Het
Gm1110	T	G	9: 26,807,916 (GRCm39)	H290P	probably benign	Het
Gm16223	T	A	5: 42,225,336 (GRCm39)	W12R	unknown	Het
Herc2	C	A	7: 55,878,317 (GRCm39)	H4623Q	probably damaging	Het
Igkv18-36	A	T	6: 69,969,589 (GRCm39)	H68Q	possibly damaging	Het
Kif7	T	C	7: 79,357,301 (GRCm39)	E635G	probably benign	Het
Or2t47	T	C	11: 58,442,388 (GRCm39)	K226E	probably benign	Het
Or4c109	A	T	2: 88,817,931 (GRCm39)	I205N	possibly damaging	Het
Or52z13	T	A	7: 103,246,574 (GRCm39)	M17K	possibly damaging	Het
Or9m1b	A	T	2: 87,836,239 (GRCm39)	N285K	probably damaging	Het
Pam	C	A	1: 97,792,054 (GRCm39)	A456S	probably benign	Het
Pgap3	T	C	11: 98,289,764 (GRCm39)	T76A	possibly damaging	Het
Pkd2	C	A	5: 104,637,215 (GRCm39)	Y609*	probably null	Het
Polr3h	C	A	15: 81,801,595 (GRCm39)	A94S	probably benign	Het
Rhod	T	C	19: 4,482,186 (GRCm39)	D76G	probably damaging	Het
Rims2	T	C	15: 39,320,129 (GRCm39)	V670A	probably damaging	Het
Rpap3	G	A	15: 97,579,620 (GRCm39)	T464M	possibly damaging	Het
Rufy1	T	A	11: 50,297,310 (GRCm39)	I381L	probably benign	Het
Slc1a4	T	C	11: 20,256,506 (GRCm39)	T442A	probably damaging	Het
Slc9b1	T	C	3: 135,100,670 (GRCm39)	S472P	probably damaging	Het
Tmtc3	T	C	10: 100,287,294 (GRCm39)	T501A	possibly damaging	Het
Tnpo3	C	A	6: 29,555,181 (GRCm39)	D801Y	probably damaging	Het
Ttc39b	T	C	4: 83,179,193 (GRCm39)	Y111C	probably damaging	Het
Ubr4	A	T	4: 139,127,240 (GRCm39)	R543*	probably null	Het
Vmn1r74	T	G	7: 11,581,240 (GRCm39)	L180R	probably damaging	Het
Vps45	T	G	3: 95,960,401 (GRCm39)	E80A	probably benign	Het
Zfp677	T	C	17: 21,617,107 (GRCm39)	Y55H	probably damaging	Het
Zng1	A	G	19: 24,900,130 (GRCm39)	V289A	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
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

2016-08-02