Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Plcl1'

582691

Institutional Source

Beutler Lab

Gene Symbol

Plcl1

Ensembl Gene

ENSMUSG00000038349

Gene Name

phospholipase C-like 1

Synonyms

C230017K02Rik, PRIP-1, PLC-L

MMRRC Submission

045594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55445080-55793444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55735523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 288 (I288T)

Ref Sequence

ENSEMBL: ENSMUSP00000037854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042986]

AlphaFold

Q3USB7

Predicted Effect

probably benign
Transcript: ENSMUST00000042986
AA Change: I288T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: I288T

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
PH	115	226	6.98e-4	SMART
low complexity region	301	310	N/A	INTRINSIC
Pfam:EF-hand_like	316	398	5.9e-27	PFAM
PLCXc	399	543	2.13e-82	SMART
low complexity region	550	564	N/A	INTRINSIC
PLCYc	586	702	2.15e-69	SMART
C2	723	829	1.02e-21	SMART
low complexity region	1080	1092	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

PHENOTYPE: Homozygous null mutants display impaired motor coordination and decreased sensitivity to the sedative diazepam. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,902,949 (GRCm39)	C82F	unknown	Het
Adam21	G	C	12: 81,605,722 (GRCm39)	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,980,675 (GRCm39)	Y137D	probably benign	Het
Ago3	T	C	4: 126,257,600 (GRCm39)	K477R	probably benign	Het
Ahnak	T	A	19: 8,979,686 (GRCm39)	D323E	probably benign	Het
Amph	A	G	13: 19,270,715 (GRCm39)	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,682,910 (GRCm39)	C106S	probably damaging	Het
Bmp5	A	T	9: 75,683,384 (GRCm39)	T4S	probably benign	Het
Brix1	G	A	15: 10,476,676 (GRCm39)	R267C	probably damaging	Het
Calcrl	G	A	2: 84,203,708 (GRCm39)	S24L	probably benign	Het
Ccdc40	T	G	11: 119,123,047 (GRCm39)	I213R	possibly damaging	Het
Cd300lg	A	G	11: 101,945,028 (GRCm39)	I413V	probably benign	Het
Cdh3	G	A	8: 107,268,005 (GRCm39)	D347N	probably damaging	Het
Clcn3	T	C	8: 61,394,446 (GRCm39)	T55A	probably benign	Het
Cnga4	A	G	7: 105,055,195 (GRCm39)	T260A	probably damaging	Het
Cpne8	G	T	15: 90,486,022 (GRCm39)	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,203,734 (GRCm39)	Y74H	unknown	Het
Cryl1	A	T	14: 57,513,428 (GRCm39)	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,978,370 (GRCm39)		probably benign	Het
Cyp4f39	T	C	17: 32,705,946 (GRCm39)	S346P	probably damaging	Het
Cyria	A	G	12: 12,408,057 (GRCm39)	T28A	possibly damaging	Het
Ddhd1	G	A	14: 45,895,104 (GRCm39)	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,831,498 (GRCm39)	C662F	probably damaging	Het
E2f6	G	A	12: 16,872,125 (GRCm39)	G190S	probably benign	Het
Esp34	A	T	17: 38,870,432 (GRCm39)	I109F	possibly damaging	Het
Espl1	A	T	15: 102,213,486 (GRCm39)	D604V	probably damaging	Het
Exo1	T	C	1: 175,728,870 (GRCm39)	C645R	probably benign	Het
Fah	A	G	7: 84,246,282 (GRCm39)	V189A	probably benign	Het
Fam184b	A	C	5: 45,688,093 (GRCm39)	Y939D	probably damaging	Het
Fchsd2	T	A	7: 100,908,829 (GRCm39)	L410*	probably null	Het
Gak	A	T	5: 108,739,065 (GRCm39)	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,743,705 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,306,103 (GRCm39)	R165G	probably benign	Het
Hexd	T	C	11: 121,108,923 (GRCm39)	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,235,507 (GRCm39)	S145C	probably damaging	Het
Il18	A	G	9: 50,486,640 (GRCm39)	Y23C	probably damaging	Het
Itgav	A	T	2: 83,632,373 (GRCm39)	I954F	probably benign	Het
Kcna4	A	G	2: 107,126,600 (GRCm39)	R445G	probably damaging	Het
Kyat3	T	A	3: 142,440,305 (GRCm39)	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,537,117 (GRCm39)	D139V	possibly damaging	Het
Lrp3	C	T	7: 34,903,755 (GRCm39)	G197D	probably damaging	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k4	T	C	17: 12,480,219 (GRCm39)	Q661R	probably benign	Het
Marcks	A	C	10: 37,012,577 (GRCm39)	F153V	unknown	Het
Mocs1	T	C	17: 49,742,292 (GRCm39)		probably null	Het
Naa60	A	G	16: 3,719,768 (GRCm39)	T232A	probably benign	Het
Oosp1	A	T	19: 11,666,065 (GRCm39)	I75N	probably benign	Het
Opn3	A	G	1: 175,493,189 (GRCm39)	V125A	probably benign	Het
Or2ag18	A	G	7: 106,404,994 (GRCm39)	V225A	probably damaging	Het
Or2f1	T	A	6: 42,721,568 (GRCm39)	I199N	probably damaging	Het
Or4c102	A	G	2: 88,423,005 (GRCm39)	T286A	possibly damaging	Het
Or7g27	T	A	9: 19,250,294 (GRCm39)	C179*	probably null	Het
Palb2	T	C	7: 121,712,501 (GRCm39)	T947A	probably damaging	Het
Pde5a	C	T	3: 122,634,648 (GRCm39)	R730*	probably null	Het
Plxnb2	A	G	15: 89,045,977 (GRCm39)	I966T	probably benign	Het
Prkcz	T	C	4: 155,355,742 (GRCm39)	E400G	probably damaging	Het
Prpf8	A	G	11: 75,400,102 (GRCm39)	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,357,920 (GRCm39)	T154P	probably benign	Het
Rel	T	C	11: 23,720,676 (GRCm39)		probably null	Het
Rxylt1	A	G	10: 121,917,344 (GRCm39)	W390R	probably damaging	Het
Serpinb1c	T	A	13: 33,066,200 (GRCm39)	K248N	probably benign	Het
Shkbp1	A	C	7: 27,046,583 (GRCm39)	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,193,076 (GRCm39)	V559A	probably benign	Het
Sox6	A	T	7: 115,400,813 (GRCm39)	F10I	probably damaging	Het
Stkld1	T	C	2: 26,837,259 (GRCm39)	V303A	probably benign	Het
Styk1	T	A	6: 131,289,803 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,654,762 (GRCm39)	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,290,180 (GRCm39)	I270F	possibly damaging	Het
Trak1	A	G	9: 121,271,777 (GRCm39)	E166G	probably damaging	Het
Tsc2	A	T	17: 24,849,939 (GRCm39)	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,042,809 (GRCm39)	M1L	probably benign	Het
Usp50	T	C	2: 126,625,146 (GRCm39)	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,652,685 (GRCm39)	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,055,505 (GRCm39)	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,774,665 (GRCm39)	I230T	probably benign	Het

Other mutations in Plcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Plcl1	APN	1	55,445,695 (GRCm39)	missense	probably benign
IGL00491:Plcl1	APN	1	55,752,657 (GRCm39)	critical splice donor site	probably null
IGL00753:Plcl1	APN	1	55,735,897 (GRCm39)	missense	probably damaging	1.00
IGL01415:Plcl1	APN	1	55,735,555 (GRCm39)	missense	possibly damaging	0.92
IGL03024:Plcl1	APN	1	55,734,946 (GRCm39)	missense	probably damaging	1.00
K3955:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
PIT4791001:Plcl1	UTSW	1	55,741,090 (GRCm39)	missense	probably benign	0.03
R0066:Plcl1	UTSW	1	55,752,634 (GRCm39)	missense	probably damaging	0.99
R0066:Plcl1	UTSW	1	55,752,634 (GRCm39)	missense	probably damaging	0.99
R0083:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
R0086:Plcl1	UTSW	1	55,754,742 (GRCm39)	missense	probably damaging	1.00
R0092:Plcl1	UTSW	1	55,735,924 (GRCm39)	missense	probably damaging	0.98
R0108:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
R1716:Plcl1	UTSW	1	55,734,997 (GRCm39)	missense	probably damaging	0.99
R2061:Plcl1	UTSW	1	55,790,504 (GRCm39)	missense	probably benign	0.01
R2128:Plcl1	UTSW	1	55,736,997 (GRCm39)	missense	probably damaging	1.00
R2869:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2869:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2870:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2870:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2872:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2872:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2873:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R3819:Plcl1	UTSW	1	55,735,758 (GRCm39)	missense	probably benign
R3974:Plcl1	UTSW	1	55,737,374 (GRCm39)	missense	probably benign	0.30
R3975:Plcl1	UTSW	1	55,737,374 (GRCm39)	missense	probably benign	0.30
R4214:Plcl1	UTSW	1	55,790,494 (GRCm39)	nonsense	probably null
R4400:Plcl1	UTSW	1	55,754,736 (GRCm39)	missense	probably damaging	1.00
R4452:Plcl1	UTSW	1	55,736,045 (GRCm39)	missense	probably benign	0.00
R4615:Plcl1	UTSW	1	55,737,293 (GRCm39)	missense	probably benign	0.00
R5060:Plcl1	UTSW	1	55,735,671 (GRCm39)	missense	possibly damaging	0.84
R5422:Plcl1	UTSW	1	55,736,543 (GRCm39)	missense	probably benign	0.00
R5568:Plcl1	UTSW	1	55,735,309 (GRCm39)	missense	possibly damaging	0.82
R5781:Plcl1	UTSW	1	55,735,148 (GRCm39)	missense	possibly damaging	0.92
R5809:Plcl1	UTSW	1	55,735,160 (GRCm39)	missense	probably damaging	1.00
R6009:Plcl1	UTSW	1	55,735,405 (GRCm39)	missense	probably damaging	1.00
R6339:Plcl1	UTSW	1	55,735,474 (GRCm39)	missense	probably damaging	1.00
R6431:Plcl1	UTSW	1	55,736,411 (GRCm39)	missense	probably benign	0.03
R6534:Plcl1	UTSW	1	55,735,907 (GRCm39)	missense	probably damaging	1.00
R6565:Plcl1	UTSW	1	55,737,117 (GRCm39)	nonsense	probably null
R6678:Plcl1	UTSW	1	55,734,935 (GRCm39)	missense	probably benign	0.13
R6773:Plcl1	UTSW	1	55,790,461 (GRCm39)	missense	probably benign	0.03
R6925:Plcl1	UTSW	1	55,445,757 (GRCm39)	nonsense	probably null
R7168:Plcl1	UTSW	1	55,736,622 (GRCm39)	missense	probably damaging	1.00
R7256:Plcl1	UTSW	1	55,737,377 (GRCm39)	missense	probably benign	0.45
R7527:Plcl1	UTSW	1	55,736,273 (GRCm39)	missense	probably damaging	1.00
R7536:Plcl1	UTSW	1	55,752,640 (GRCm39)	nonsense	probably null
R7585:Plcl1	UTSW	1	55,445,608 (GRCm39)	missense	probably benign	0.00
R7591:Plcl1	UTSW	1	55,736,608 (GRCm39)	missense	probably benign	0.01
R7689:Plcl1	UTSW	1	55,736,627 (GRCm39)	missense	probably damaging	1.00
R7960:Plcl1	UTSW	1	55,736,443 (GRCm39)	missense	possibly damaging	0.48
R8029:Plcl1	UTSW	1	55,735,237 (GRCm39)	missense	probably benign	0.26
R8241:Plcl1	UTSW	1	55,734,976 (GRCm39)	missense	probably benign	0.01
R8323:Plcl1	UTSW	1	55,736,895 (GRCm39)	missense	possibly damaging	0.58
R9000:Plcl1	UTSW	1	55,736,990 (GRCm39)	missense	probably damaging	1.00
R9331:Plcl1	UTSW	1	55,736,030 (GRCm39)	missense	possibly damaging	0.95
R9358:Plcl1	UTSW	1	55,735,810 (GRCm39)	missense	probably damaging	1.00
R9432:Plcl1	UTSW	1	55,445,587 (GRCm39)	missense	probably benign
R9452:Plcl1	UTSW	1	55,734,992 (GRCm39)	missense	probably damaging	1.00
R9652:Plcl1	UTSW	1	55,735,450 (GRCm39)	missense	probably benign	0.00
R9802:Plcl1	UTSW	1	55,735,241 (GRCm39)	missense	probably damaging	0.98
Z1176:Plcl1	UTSW	1	55,790,443 (GRCm39)	nonsense	probably null
Z1176:Plcl1	UTSW	1	55,735,199 (GRCm39)	missense	probably benign	0.20
Z1177:Plcl1	UTSW	1	55,736,043 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGTACCTGGTCTCTCGTAGTAAG -3'
(R):5'- ATATCCTCAGTGATGTGGGTGAC -3'

Sequencing Primer
(F):5'- TGGTCTCTCGTAGTAAGCAACCG -3'
(R):5'- TGACACCTTGCTCAGCTTCTAAGAAG -3'

Posted On

2019-10-17