Mutagenetix > Incidental Mutation

Incidental Mutation 'R0413:Plcg1'

36763

Institutional Source

Beutler Lab

Gene Symbol

Plcg1

Ensembl Gene

ENSMUSG00000016933

Gene Name

phospholipase C, gamma 1

Synonyms

Plc-1, Cded, Plcg-1, Plc-gamma1

MMRRC Submission

038615-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160573230-160617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 160603349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1173 (L1173F)

Ref Sequence

ENSEMBL: ENSMUSP00000105088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103111] [ENSMUST00000103112] [ENSMUST00000103115] [ENSMUST00000109462] [ENSMUST00000151590]

AlphaFold

Q62077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000017077

Predicted Effect

probably benign
Transcript: ENSMUST00000103111

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART
ZnF_C2H2	109	132	1.08e1	SMART
low complexity region	167	189	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
HOX	300	362	1.48e-6	SMART
low complexity region	434	447	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
HOX	489	551	2.25e-11	SMART
HOX	608	669	2.04e-9	SMART
low complexity region	677	690	N/A	INTRINSIC
HOX	759	821	7.49e-8	SMART
Pfam:Homez	836	888	5.2e-26	PFAM
low complexity region	919	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103112

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART
ZnF_C2H2	109	132	1.08e1	SMART
low complexity region	167	189	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
HOX	300	362	1.48e-6	SMART
low complexity region	434	447	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
HOX	489	551	2.25e-11	SMART
HOX	608	669	2.04e-9	SMART
low complexity region	677	690	N/A	INTRINSIC
HOX	759	821	7.49e-8	SMART
Pfam:Homez	836	888	5.2e-26	PFAM
low complexity region	919	936	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103115
AA Change: L1173F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: L1173F

Domain	Start	End	E-Value	Type
PH	33	144	5.54e-7	SMART
PLCXc	320	464	3.7e-91	SMART
PH	489	680	2.99e1	SMART
SH2	548	645	1.12e-30	SMART
SH2	666	747	3.78e-28	SMART
SH3	794	850	6.49e-16	SMART
PH	804	933	8.93e-2	SMART
PLCYc	953	1070	3.23e-73	SMART
C2	1089	1192	1.37e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109462
AA Change: L1173F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: L1173F

Domain	Start	End	E-Value	Type
PH	33	144	5.54e-7	SMART
Pfam:EF-hand_like	240	318	5.2e-8	PFAM
PLCXc	320	464	3.7e-91	SMART
PH	489	680	2.99e1	SMART
SH2	548	645	1.12e-30	SMART
SH2	666	747	3.78e-28	SMART
SH3	794	850	6.49e-16	SMART
PH	804	933	8.93e-2	SMART
PLCYc	953	1070	3.23e-73	SMART
C2	1089	1192	1.37e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133937

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143997
AA Change: L84F

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115181
Gene: ENSMUSG00000016933
AA Change: L84F

Domain	Start	End	E-Value	Type
C2	1	104	3.15e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147254

Predicted Effect

probably benign
Transcript: ENSMUST00000151590

SMART Domains

Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933

Domain	Start	End	E-Value	Type
PH	33	144	5.54e-7	SMART
Pfam:EF-hand_like	239	318	4.4e-8	PFAM
PLCXc	320	464	3.7e-91	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with arrested growth and/or abnormal hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,158,355 (GRCm39)		probably benign	Het
Adh1	C	T	3: 137,986,193 (GRCm39)	T60I	probably benign	Het
Agtpbp1	T	A	13: 59,661,966 (GRCm39)	I282F	probably damaging	Het
Arih2	G	T	9: 108,493,916 (GRCm39)	Q166K	probably damaging	Het
Cacna1s	A	G	1: 136,025,947 (GRCm39)	T1031A	probably benign	Het
Ccdc102a	C	A	8: 95,629,914 (GRCm39)	E542D	probably benign	Het
Cdk1	T	C	10: 69,180,929 (GRCm39)	I94V	probably benign	Het
Cep290	C	T	10: 100,359,176 (GRCm39)	Q969*	probably null	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Col12a1	T	C	9: 79,606,642 (GRCm39)	T594A	probably damaging	Het
Cpox	A	G	16: 58,491,232 (GRCm39)	T148A	possibly damaging	Het
Csf3r	A	G	4: 125,933,460 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,760,530 (GRCm39)	C202S	probably damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dnah9	T	A	11: 65,998,961 (GRCm39)	Y1029F	probably damaging	Het
Dok5	T	C	2: 170,671,880 (GRCm39)		probably benign	Het
Dusp11	A	T	6: 85,929,352 (GRCm39)		probably benign	Het
Edar	T	C	10: 58,465,262 (GRCm39)	N34D	probably benign	Het
Efcab7	C	T	4: 99,766,943 (GRCm39)	T56I	probably damaging	Het
Entpd1	G	A	19: 40,699,729 (GRCm39)	V47I	probably benign	Het
Ephx4	A	G	5: 107,551,601 (GRCm39)	N62S	probably benign	Het
Etaa1	A	T	11: 17,896,350 (GRCm39)	L589*	probably null	Het
Fam135b	T	A	15: 71,335,670 (GRCm39)	N508I	probably benign	Het
Fam193a	T	C	5: 34,623,552 (GRCm39)	V27A	possibly damaging	Het
Fmnl1	A	G	11: 103,084,889 (GRCm39)		probably benign	Het
Fstl1	A	C	16: 37,641,516 (GRCm39)		probably null	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Gemin4	T	C	11: 76,102,148 (GRCm39)	Y871C	probably benign	Het
Get1	T	G	16: 95,954,217 (GRCm39)	S105R	probably benign	Het
Gm7247	T	C	14: 51,760,929 (GRCm39)	V166A	probably benign	Het
Gpcpd1	A	T	2: 132,406,543 (GRCm39)		probably benign	Het
Gpnmb	A	G	6: 49,019,737 (GRCm39)	D36G	probably benign	Het
Ido2	C	T	8: 25,048,159 (GRCm39)		probably null	Het
Igfn1	G	A	1: 135,895,334 (GRCm39)	T1744I	probably benign	Het
Inf2	T	G	12: 112,568,110 (GRCm39)	F221V	probably damaging	Het
Itga10	T	A	3: 96,556,375 (GRCm39)	I170N	probably damaging	Het
Lrp6	A	T	6: 134,484,587 (GRCm39)	D345E	probably damaging	Het
Macf1	A	T	4: 123,366,062 (GRCm39)	S2900T	probably benign	Het
Med13	C	A	11: 86,190,033 (GRCm39)		probably benign	Het
Morc3	T	C	16: 93,667,362 (GRCm39)	V507A	probably damaging	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Myl6	C	T	10: 128,328,091 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,742,314 (GRCm39)	V942A	probably benign	Het
Myorg	G	T	4: 41,498,585 (GRCm39)	H348Q	probably benign	Het
Ncdn	G	T	4: 126,644,327 (GRCm39)	T165K	possibly damaging	Het
Ncf1	T	C	5: 134,251,656 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,180,751 (GRCm39)		probably benign	Het
Nid1	T	A	13: 13,656,681 (GRCm39)	I604N	probably benign	Het
Nsrp1	T	C	11: 76,936,997 (GRCm39)	R400G	probably benign	Het
Nup43	T	G	10: 7,546,791 (GRCm39)	I137S	probably benign	Het
Nynrin	A	G	14: 56,109,648 (GRCm39)	N1585S	possibly damaging	Het
Obscn	T	A	11: 58,893,823 (GRCm39)	Y6748F	probably benign	Het
Omg	A	G	11: 79,393,661 (GRCm39)	S66P	possibly damaging	Het
Or13a27	A	T	7: 139,925,108 (GRCm39)	S265T	possibly damaging	Het
Or2y1d	T	C	11: 49,322,212 (GRCm39)	V303A	possibly damaging	Het
Or4c15	A	G	2: 88,759,906 (GRCm39)	V251A	probably benign	Het
Or51b6b	A	T	7: 103,309,957 (GRCm39)	F167I	possibly damaging	Het
Or52z1	A	G	7: 103,437,362 (GRCm39)	Y41H	probably damaging	Het
Or5ak22	T	C	2: 85,230,019 (GRCm39)	N286S	probably damaging	Het
Or8g27	A	G	9: 39,129,566 (GRCm39)	I304M	probably benign	Het
Or8k24	G	A	2: 86,216,058 (GRCm39)	R235C	probably benign	Het
Ormdl1	C	T	1: 53,347,978 (GRCm39)		probably benign	Het
Ovch2	T	A	7: 107,381,243 (GRCm39)	I552L	probably benign	Het
Pcare	T	G	17: 72,059,212 (GRCm39)	D155A	probably benign	Het
Pcsk9	G	T	4: 106,311,538 (GRCm39)	T231N	probably damaging	Het
Pgpep1	T	C	8: 71,110,100 (GRCm39)	N22S	probably damaging	Het
Plb1	T	C	5: 32,512,706 (GRCm39)	F1355L	probably damaging	Het
Plch2	A	T	4: 155,091,373 (GRCm39)		probably null	Het
Ppp1r3g	T	A	13: 36,153,331 (GRCm39)	F250L	probably damaging	Het
Prkcg	A	G	7: 3,368,095 (GRCm39)	I381V	probably benign	Het
Pum2	C	T	12: 8,763,464 (GRCm39)	A207V	probably benign	Het
Rabac1	T	C	7: 24,669,607 (GRCm39)	E166G	probably damaging	Het
Rad21l	G	A	2: 151,493,851 (GRCm39)	S450L	probably benign	Het
Rangap1	ACACTCA	ACA	15: 81,600,876 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,348,824 (GRCm39)	C40F	probably damaging	Het
Rfx2	A	G	17: 57,091,418 (GRCm39)		probably benign	Het
Rrp15	G	A	1: 186,481,346 (GRCm39)		probably benign	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sec61a2	A	T	2: 5,881,165 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,669,590 (GRCm39)	K705E	probably damaging	Het
Setx	A	G	2: 29,029,290 (GRCm39)	Y186C	probably damaging	Het
Slc22a23	T	C	13: 34,367,115 (GRCm39)	E631G	probably damaging	Het
Slc5a5	T	C	8: 71,344,319 (GRCm39)	T134A	possibly damaging	Het
Stx7	T	C	10: 24,057,492 (GRCm39)	S173P	probably damaging	Het
Sybu	T	C	15: 44,536,668 (GRCm39)	T353A	probably damaging	Het
Syde2	T	A	3: 145,712,887 (GRCm39)	N1008K	probably damaging	Het
Tiam1	T	C	16: 89,606,253 (GRCm39)		probably benign	Het
Timm10b	G	A	7: 105,327,537 (GRCm39)	E61K	probably benign	Het
Tm2d1	A	G	4: 98,253,810 (GRCm39)	I121T	probably damaging	Het
Trim75	T	C	8: 65,435,892 (GRCm39)	E186G	probably benign	Het
Tti1	T	C	2: 157,837,396 (GRCm39)	K895E	probably benign	Het
Vmn1r43	A	G	6: 89,846,830 (GRCm39)	S219P	probably damaging	Het
Vmn2r73	A	T	7: 85,521,087 (GRCm39)	S294T	possibly damaging	Het
Vmn2r94	A	T	17: 18,464,080 (GRCm39)	F737I	probably damaging	Het
Vsx2	A	T	12: 84,616,777 (GRCm39)	T21S	probably benign	Het
Zfp462	G	T	4: 55,010,534 (GRCm39)	R833S	probably damaging	Het
Zfpl1	G	A	19: 6,132,482 (GRCm39)	P143L	probably damaging	Het

Other mutations in Plcg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Plcg1	APN	2	160,599,186 (GRCm39)	missense	probably damaging	1.00
IGL00885:Plcg1	APN	2	160,600,003 (GRCm39)	missense	probably benign	0.03
IGL01066:Plcg1	APN	2	160,596,318 (GRCm39)	missense	probably damaging	1.00
IGL01356:Plcg1	APN	2	160,595,813 (GRCm39)	missense	probably damaging	1.00
IGL01629:Plcg1	APN	2	160,599,930 (GRCm39)	missense	possibly damaging	0.69
IGL01732:Plcg1	APN	2	160,589,699 (GRCm39)	missense	probably damaging	0.97
IGL01754:Plcg1	APN	2	160,603,353 (GRCm39)	missense	probably damaging	1.00
IGL02195:Plcg1	APN	2	160,595,846 (GRCm39)	missense	possibly damaging	0.83
IGL02371:Plcg1	APN	2	160,595,427 (GRCm39)	missense	probably damaging	0.99
IGL02671:Plcg1	APN	2	160,597,672 (GRCm39)	nonsense	probably null
IGL03096:Plcg1	APN	2	160,599,126 (GRCm39)	splice site	probably benign
IGL03129:Plcg1	APN	2	160,616,446 (GRCm39)	critical splice acceptor site	probably null
IGL03139:Plcg1	APN	2	160,590,049 (GRCm39)	critical splice donor site	probably null
IGL03211:Plcg1	APN	2	160,601,611 (GRCm39)	missense	possibly damaging	0.82
suscepit	UTSW	2	160,595,522 (GRCm39)	splice site	probably null
IGL03047:Plcg1	UTSW	2	160,596,799 (GRCm39)	missense	probably damaging	1.00
R0098:Plcg1	UTSW	2	160,573,920 (GRCm39)	missense	probably damaging	1.00
R0390:Plcg1	UTSW	2	160,594,286 (GRCm39)	missense	probably damaging	1.00
R0650:Plcg1	UTSW	2	160,595,283 (GRCm39)	splice site	probably benign
R0679:Plcg1	UTSW	2	160,598,830 (GRCm39)	missense	probably damaging	1.00
R0709:Plcg1	UTSW	2	160,593,698 (GRCm39)	splice site	probably null
R1719:Plcg1	UTSW	2	160,595,663 (GRCm39)	missense	probably null	0.94
R1721:Plcg1	UTSW	2	160,573,840 (GRCm39)	missense	probably damaging	0.99
R1727:Plcg1	UTSW	2	160,590,008 (GRCm39)	missense	probably benign	0.00
R1978:Plcg1	UTSW	2	160,594,498 (GRCm39)	splice site	probably null
R2277:Plcg1	UTSW	2	160,597,725 (GRCm39)	missense	possibly damaging	0.48
R2698:Plcg1	UTSW	2	160,603,383 (GRCm39)	missense	possibly damaging	0.90
R3832:Plcg1	UTSW	2	160,596,357 (GRCm39)	missense	possibly damaging	0.95
R4094:Plcg1	UTSW	2	160,589,761 (GRCm39)	missense	probably damaging	0.98
R4260:Plcg1	UTSW	2	160,593,627 (GRCm39)	critical splice donor site	probably null
R4622:Plcg1	UTSW	2	160,589,688 (GRCm39)	splice site	probably benign
R4837:Plcg1	UTSW	2	160,592,906 (GRCm39)	missense	probably benign	0.00
R4942:Plcg1	UTSW	2	160,595,509 (GRCm39)	splice site	probably null
R5514:Plcg1	UTSW	2	160,595,275 (GRCm39)	critical splice donor site	probably null
R5647:Plcg1	UTSW	2	160,593,588 (GRCm39)	missense	probably benign	0.45
R5929:Plcg1	UTSW	2	160,595,522 (GRCm39)	splice site	probably null
R6303:Plcg1	UTSW	2	160,603,383 (GRCm39)	missense	possibly damaging	0.90
R6304:Plcg1	UTSW	2	160,603,383 (GRCm39)	missense	possibly damaging	0.90
R6471:Plcg1	UTSW	2	160,595,630 (GRCm39)	missense	probably benign	0.10
R6500:Plcg1	UTSW	2	160,596,487 (GRCm39)	missense	probably damaging	1.00
R7017:Plcg1	UTSW	2	160,600,017 (GRCm39)	missense	probably damaging	1.00
R7113:Plcg1	UTSW	2	160,590,203 (GRCm39)	missense	possibly damaging	0.78
R7137:Plcg1	UTSW	2	160,595,846 (GRCm39)	missense	possibly damaging	0.83
R7155:Plcg1	UTSW	2	160,596,300 (GRCm39)	missense	probably damaging	1.00
R7211:Plcg1	UTSW	2	160,573,794 (GRCm39)	missense	probably benign	0.02
R7777:Plcg1	UTSW	2	160,596,523 (GRCm39)	missense	possibly damaging	0.89
R7918:Plcg1	UTSW	2	160,595,585 (GRCm39)	missense	probably damaging	1.00
R7934:Plcg1	UTSW	2	160,616,498 (GRCm39)	missense	possibly damaging	0.53
R8309:Plcg1	UTSW	2	160,595,853 (GRCm39)	missense	probably benign	0.00
R8344:Plcg1	UTSW	2	160,589,816 (GRCm39)	missense	probably benign	0.00
R8377:Plcg1	UTSW	2	160,596,842 (GRCm39)	missense	probably damaging	1.00
R8524:Plcg1	UTSW	2	160,603,387 (GRCm39)	critical splice donor site	probably null
R8708:Plcg1	UTSW	2	160,596,473 (GRCm39)	splice site	probably benign
R8831:Plcg1	UTSW	2	160,589,732 (GRCm39)	missense	probably benign	0.02
R8936:Plcg1	UTSW	2	160,589,986 (GRCm39)	missense	probably benign	0.02
R9414:Plcg1	UTSW	2	160,603,276 (GRCm39)	missense	possibly damaging	0.80
R9466:Plcg1	UTSW	2	160,596,520 (GRCm39)	missense	probably benign
R9608:Plcg1	UTSW	2	160,597,671 (GRCm39)	missense	probably benign	0.02
R9755:Plcg1	UTSW	2	160,573,780 (GRCm39)	missense	probably benign	0.27
Z1176:Plcg1	UTSW	2	160,600,047 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGATGTGGCCTCAGCTTTTGCCC -3'
(R):5'- CTATGACTGAACTCTCTGCTCACGC -3'

Sequencing Primer
(F):5'- CTTGCTTTCACAGTGGACAACG -3'
(R):5'- CCTTAGCAGGGAAAATGTCAATC -3'

Posted On

2013-05-09