Mutagenetix > Incidental Mutation

Incidental Mutation 'R3406:Plrg1'

259373

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

040624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83055522-83072355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83071219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 431 (W431R)

Ref Sequence

ENSEMBL: ENSMUSP00000113614 (fasta)

Gene Model

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

AlphaFold

Q922V4

Predicted Effect

probably benign
Transcript: ENSMUST00000029628

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998

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: W431R

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

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: W431R

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

noncoding transcript
Transcript: ENSMUST00000135813

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150268
AA Change: W440R

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: W440R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151915

Meta Mutation Damage Score

0.9549

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

98% (52/53)

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
Abhd18	T	A	3: 40,904,903	M1K	probably null	Het
Bdkrb2	T	C	12: 105,592,496	V332A	possibly damaging	Het
Cdc27	T	C	11: 104,507,200	E778G	probably damaging	Het
Chd4	C	A	6: 125,122,007	T1586K	probably benign	Het
Cnga3	A	G	1: 37,262,065	E622G	probably benign	Het
Dbh	A	G	2: 27,174,965	D396G	possibly damaging	Het
Dhodh	G	A	8: 109,603,475	R86*	probably null	Het
Dpt	A	C	1: 164,796,931	E67A	probably damaging	Het
Eif2ak2	A	G	17: 78,858,639		probably benign	Het
Esp4	T	A	17: 40,602,445	L68M	possibly damaging	Het
Exo1	A	G	1: 175,905,970	K787E	possibly damaging	Het
Fbxo38	T	C	18: 62,514,843	T875A	probably damaging	Het
Gm5346	A	T	8: 43,626,052	C378*	probably null	Het
Gsdma	T	C	11: 98,673,138		probably benign	Het
Hemk1	G	A	9: 107,337,216	Q6*	probably null	Het
Hmcn2	C	T	2: 31,433,272		probably benign	Het
Hook2	A	G	8: 84,993,984		probably benign	Het
Irx3	A	G	8: 91,798,927	S507P	unknown	Het
Kazn	C	A	4: 142,239,195		probably benign	Het
Kcne4	C	T	1: 78,817,971	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,287,529	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,632,180	L135P	probably damaging	Het
Lyst	T	A	13: 13,635,230	M495K	possibly damaging	Het
Mab21l3	C	A	3: 101,823,531	V131F	probably damaging	Het
Mki67	T	A	7: 135,707,475	T416S	probably benign	Het
Mlst8	A	T	17: 24,478,125	M56K	probably benign	Het
Mmp9	A	G	2: 164,949,390	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,746,181	Y507C	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myl12a	A	T	17: 70,994,742	M130K	probably benign	Het
Ncdn	C	T	4: 126,748,595	R423Q	probably benign	Het
Ncf2	A	G	1: 152,825,947		probably benign	Het
Nek8	G	T	11: 78,170,746	S319*	probably null	Het
Olfr553	T	C	7: 102,614,786	M68V	possibly damaging	Het
Olfr740	G	A	14: 50,453,196	C48Y	probably benign	Het
Pcdh17	T	A	14: 84,446,622	D176E	probably damaging	Het
Pcdhb15	C	A	18: 37,475,389	A558E	probably benign	Het
Rbfox3	T	A	11: 118,496,457	Q277L	possibly damaging	Het
Rpgrip1	G	A	14: 52,145,209	D600N	possibly damaging	Het
Siah3	A	G	14: 75,525,981	D224G	probably damaging	Het
Slc22a6	T	C	19: 8,621,311	L244P	probably damaging	Het
Stap2	A	T	17: 55,997,511	W374R	probably benign	Het
Tbck	T	A	3: 132,727,084	N418K	probably benign	Het
Tcp11x2	T	C	X: 135,654,984	N474S	probably damaging	Het
Tenm3	A	C	8: 48,228,555	V2680G	probably damaging	Het
Thada	A	T	17: 84,230,785		probably benign	Het
Tlr6	C	T	5: 64,953,429	V712M	probably damaging	Het
Tmem28	A	G	X: 99,845,503	I325V	probably benign	Het
Uvssa	G	T	5: 33,389,818	G243C	probably damaging	Het
Vwa8	T	A	14: 79,164,220		probably benign	Het
Znrf2	A	T	6: 54,884,791	N229I	probably damaging	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
R5114:Plrg1	UTSW	3	83071251	missense	probably benign	0.13
R5922:Plrg1	UTSW	3	83056848	missense	possibly damaging	0.77
R6333:Plrg1	UTSW	3	83056795	missense	probably damaging	1.00
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'- GGATTTACGCTAGGAACTGCC -3'
(R):5'- AGAACTTACCGCAGTCTCATCC -3'

Sequencing Primer
(F):5'- AACTGCCTGATGTTTGGTTGG -3'
(R):5'- GCAGTCTCATCCTCTCTGTAAAC -3'

Posted On

2015-01-23