Mutagenetix > Incidental Mutation

Incidental Mutation 'R6534:Plcl1'

520241

Institutional Source

Beutler Lab

Gene Symbol

Plcl1

Ensembl Gene

ENSMUSG00000038349

Gene Name

phospholipase C-like 1

Synonyms

C230017K02Rik, PRIP-1, PLC-L

MMRRC Submission

044660-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R6534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55445080-55793444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55735907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 416 (T416I)

Ref Sequence

ENSEMBL: ENSMUSP00000037854 (fasta)

Gene Model

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

AlphaFold

Q3USB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042986
AA Change: T416I

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

SMART Domains

Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: T416I

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	T	7: 97,875,655 (GRCm39)	L142M	probably benign	Het
Adgrb2	T	C	4: 129,916,012 (GRCm39)	F1435L	probably damaging	Het
Anapc13	T	C	9: 102,511,292 (GRCm39)	L60P	probably damaging	Het
Apaf1	T	C	10: 90,891,862 (GRCm39)	D497G	probably damaging	Het
Arpc1b	A	T	5: 145,059,377 (GRCm39)	I34F	probably damaging	Het
Atp2a2	A	T	5: 122,595,261 (GRCm39)	W1030R	possibly damaging	Het
Cdk5rap2	T	C	4: 70,273,050 (GRCm39)	E241G	probably damaging	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,134,988 (GRCm39)	Y399H	probably damaging	Het
Dnah9	T	C	11: 65,846,074 (GRCm39)	E2988G	probably damaging	Het
Dock10	T	C	1: 80,481,388 (GRCm39)	I536M	probably benign	Het
Drc7	T	C	8: 95,797,910 (GRCm39)	Y443H	probably damaging	Het
Ecel1	A	G	1: 87,082,564 (GRCm39)	S50P	probably benign	Het
Esco1	T	A	18: 10,594,794 (GRCm39)	Q164L	possibly damaging	Het
Exosc7	A	G	9: 122,961,077 (GRCm39)	D248G	probably benign	Het
Galnt3	A	G	2: 65,932,875 (GRCm39)	L201P	probably damaging	Het
Hand2	C	A	8: 57,775,071 (GRCm39)	H44N	probably benign	Het
Kcnq1	C	T	7: 142,748,064 (GRCm39)	P411S	probably benign	Het
Lonp2	A	G	8: 87,443,086 (GRCm39)	D429G	probably benign	Het
Magi3	A	G	3: 103,992,536 (GRCm39)	I312T	possibly damaging	Het
Mansc4	A	T	6: 146,988,371 (GRCm39)	I31N	probably damaging	Het
Mill2	T	A	7: 18,590,521 (GRCm39)	D200E	possibly damaging	Het
Or5d47	G	A	2: 87,804,385 (GRCm39)	A208V	probably benign	Het
Pde4d	A	G	13: 109,769,435 (GRCm39)	K41R	probably benign	Het
Pik3r5	G	A	11: 68,381,443 (GRCm39)	D210N	possibly damaging	Het
Plekhd1	T	C	12: 80,754,031 (GRCm39)	Y166H	probably damaging	Het
Prrc1	A	G	18: 57,522,346 (GRCm39)	T393A	probably damaging	Het
Scaper	A	T	9: 55,791,260 (GRCm39)	C213S	probably benign	Het
Sfxn4	T	C	19: 60,827,461 (GRCm39)	I298V	probably damaging	Het
Slc36a2	A	T	11: 55,075,693 (GRCm39)	D31E	probably benign	Het
Stra6l	G	A	4: 45,860,041 (GRCm39)		probably null	Het
Tnpo3	A	T	6: 29,572,702 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,513,877 (GRCm39)	Y1231H	probably damaging	Het
Ush2a	C	A	1: 188,183,999 (GRCm39)	Y1434*	probably null	Het
Zfp69	T	C	4: 120,788,394 (GRCm39)	Y307C	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
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
R7522:Plcl1	UTSW	1	55,735,523 (GRCm39)	missense	probably benign	0.31
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'- AGCAAGGTGTCACCCACATC -3'
(R):5'- TTATCACCTCCAGAACACTTCG -3'

Sequencing Primer
(F):5'- CCCACATCACTGAGGATATGTG -3'
(R):5'- CTCCAGAACACTTCGAAAGGAAAGG -3'

Posted On

2018-06-06