Mutagenetix > Incidental Mutation

Incidental Mutation 'R6333:Plrg1'

513226

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6333 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83055522-83072355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83056795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000029628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029628] [ENSMUST00000122128] [ENSMUST00000150268]

AlphaFold

Q922V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029628
AA Change: T12A

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

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: T12A

Domain	Start	End	E-Value	Type
WD40	192	231	1.92e-10	SMART
WD40	234	273	1.68e-6	SMART
WD40	276	315	1.96e-7	SMART
WD40	318	357	5.95e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122128
AA Change: T12A

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

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: T12A

Domain	Start	End	E-Value	Type
WD40	183	222	1.92e-10	SMART
WD40	225	264	1.68e-6	SMART
WD40	267	306	1.96e-7	SMART
WD40	309	348	5.95e-7	SMART
WD40	351	389	1.12e-2	SMART
WD40	392	430	5.47e-6	SMART
WD40	442	480	5.97e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150268
AA Change: T12A

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: T12A

Domain	Start	End	E-Value	Type
WD40	192	231	1.92e-10	SMART
WD40	234	273	1.68e-6	SMART
WD40	276	315	1.96e-7	SMART
WD40	318	357	5.95e-7	SMART
WD40	360	398	1.12e-2	SMART
WD40	401	439	5.47e-6	SMART
WD40	451	489	5.97e-1	SMART

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.9%
20x: 93.2%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,292,076	K111R	probably benign	Het
Abhd18	A	G	3: 40,933,783	Y354C	probably benign	Het
Acap1	T	C	11: 69,883,601	I424V	possibly damaging	Het
AI182371	A	T	2: 35,085,269	I306K	probably damaging	Het
Asb4	G	A	6: 5,423,597	R248H	probably damaging	Het
Brd7	T	C	8: 88,345,191	T349A	probably damaging	Het
Bub1b	T	C	2: 118,598,463		probably null	Het
Cep85l	G	A	10: 53,349,101	Q131*	probably null	Het
Chmp2b	T	A	16: 65,540,250	M178L	possibly damaging	Het
Chrnb3	A	G	8: 27,393,327	N84D	probably damaging	Het
Clec4b2	A	T	6: 123,200,678		probably null	Het
Defa34	T	C	8: 21,665,846	V17A	probably benign	Het
Dnah3	A	T	7: 120,054,633	L947Q	probably damaging	Het
Ell	A	G	8: 70,591,538	Y578C	probably damaging	Het
Esp36	T	A	17: 38,417,244	M49L	probably benign	Het
Fam35a	G	A	14: 34,267,608	T447M	probably damaging	Het
Fbxw19	A	T	9: 109,494,683	W75R	probably benign	Het
Fcgr4	A	G	1: 171,029,269	Y235C	probably damaging	Het
Gm10110	A	C	14: 89,898,297		noncoding transcript	Het
Gm13030	A	T	4: 138,871,397		probably null	Het
Gm9733	T	C	3: 15,320,611	Y77C	probably damaging	Het
Hdac9	T	C	12: 34,052,324	M1058V	probably damaging	Het
Hsd3b6	A	G	3: 98,806,224	F253S	probably damaging	Het
Hspg2	T	C	4: 137,561,955	Y3794H	probably damaging	Het
Mark4	G	A	7: 19,443,283	T207M	probably damaging	Het
Mme	A	G	3: 63,341,961	T304A	probably benign	Het
Neb	A	G	2: 52,258,263	L2657P	probably damaging	Het
Nufip1	A	C	14: 76,111,985	K152N	probably damaging	Het
Papd4	G	A	13: 93,186,313	Q43*	probably null	Het
Pcdh1	A	G	18: 38,198,807	V381A	probably benign	Het
Pdss1	A	G	2: 22,901,766	T30A	probably damaging	Het
Ppig	C	T	2: 69,749,558	H479Y	unknown	Het
Prokr2	A	G	2: 132,373,978	F188L	probably damaging	Het
Prss39	A	G	1: 34,500,069	N130S	probably benign	Het
Ptar1	G	A	19: 23,694,322	D30N	possibly damaging	Het
Rai14	G	T	15: 10,574,936	Y645*	probably null	Het
Rnasek	T	C	11: 70,238,426	Y67C	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	T	C	11: 119,463,366	V4023A	probably damaging	Het
Sash3	C	T	X: 48,159,521	L307F	probably damaging	Homo
Sctr	T	C	1: 120,056,452	F357L	probably damaging	Het
Sec14l5	G	A	16: 5,167,044	V85I	probably benign	Het
Spag8	T	C	4: 43,653,186		probably benign	Het
Tbc1d2	T	C	4: 46,620,736	D358G	possibly damaging	Het
Tcte3	G	A	17: 15,041,455		probably benign	Het
Tenm4	A	G	7: 96,774,124	T672A	probably damaging	Het
Trmt1l	T	A	1: 151,453,934	S543T	probably benign	Het
Ube4b	A	G	4: 149,348,037	F810S	probably damaging	Het
Vmn2r104	C	T	17: 20,029,586	V808I	probably benign	Het
Zfp3	T	A	11: 70,771,440	I75N	probably benign	Het
Zwint	A	G	10: 72,654,952		probably benign	Het

Other mutations in Plrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Plrg1	APN	3	83070673	missense	probably damaging	0.99
IGL00824:Plrg1	APN	3	83068335	missense	probably damaging	1.00
IGL00948:Plrg1	APN	3	83068119	missense	probably damaging	1.00
IGL02550:Plrg1	APN	3	83061123	critical splice donor site	probably null
R0743:Plrg1	UTSW	3	83059917	missense	probably benign	0.11
R1624:Plrg1	UTSW	3	83067994	splice site	probably benign
R1624:Plrg1	UTSW	3	83069744	missense	probably damaging	1.00
R1630:Plrg1	UTSW	3	83058763	missense	probably benign	0.00
R1876:Plrg1	UTSW	3	83069068	splice site	probably benign
R2383:Plrg1	UTSW	3	83065948	missense	probably damaging	1.00
R2892:Plrg1	UTSW	3	83071240	missense	probably damaging	1.00
R3406:Plrg1	UTSW	3	83071219	missense	probably damaging	1.00
R5114:Plrg1	UTSW	3	83071251	missense	probably benign	0.13
R5922:Plrg1	UTSW	3	83056848	missense	possibly damaging	0.77
R7127:Plrg1	UTSW	3	83059915	missense	probably damaging	1.00
R7530:Plrg1	UTSW	3	83058682	missense	probably damaging	1.00
R7814:Plrg1	UTSW	3	83056837	missense	probably damaging	1.00
R8123:Plrg1	UTSW	3	83065930	missense	probably benign	0.16
R8131:Plrg1	UTSW	3	83069774	missense	probably damaging	1.00
R9332:Plrg1	UTSW	3	83069001	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- AGGAGCTTTCTCATCTTCGTTG -3'
(R):5'- CCACTTGCTATTGCCCAAGC -3'

Sequencing Primer
(F):5'- AGCTTTCTCATCTTCGTTGTTGATTG -3'
(R):5'- AAGCGTCCTGTGAGTATGCAC -3'

Posted On

2018-04-27