Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Plrg1'

394062

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5114 (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 83071251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 441 (H441Q)

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 benign
Transcript: ENSMUST00000122128
AA Change: H441Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: H441Q

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

probably benign
Transcript: ENSMUST00000150268
AA Change: H450Q

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: H450Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,358	M431L	probably benign	Het
1700066B19Rik	A	G	18: 35,728,841	Y126C	probably damaging	Het
1810041L15Rik	T	C	15: 84,417,226	D72G	probably damaging	Het
5830454E08Rik	T	A	9: 120,577,627		probably benign	Het
Ada	G	A	2: 163,730,486	R225C	probably benign	Het
Adamts9	T	C	6: 92,890,273	K625R	probably benign	Het
Ano1	T	C	7: 144,657,083	I182V	possibly damaging	Het
Aox4	T	C	1: 58,246,286	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,760,144	I29V	probably benign	Het
Arhgap15	A	G	2: 43,780,618	T5A	probably benign	Het
Asb10	A	T	5: 24,540,742	L62Q	probably damaging	Het
Atp23	T	A	10: 126,887,534	H233L	possibly damaging	Het
BC005561	T	A	5: 104,519,876	F755I	probably damaging	Het
Bglap2	C	T	3: 88,382,125		probably benign	Het
Carnmt1	T	C	19: 18,677,734	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,282,837	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,393,360	F174S	probably damaging	Het
Celsr2	C	T	3: 108,393,996	V2695I	probably benign	Het
Chd1	C	A	17: 15,728,198	S127R	probably benign	Het
Chmp4c	T	A	3: 10,385,586	F75L	probably benign	Het
Col13a1	A	C	10: 61,890,101	V260G	possibly damaging	Het
Col5a1	A	G	2: 28,025,652	N183D	probably damaging	Het
Cpn1	C	T	19: 43,986,195	V32M	probably damaging	Het
Cxcl1	A	G	5: 90,891,514	M39V	probably benign	Het
Dpep2	T	A	8: 105,986,193	D455V	probably damaging	Het
Dpp7	G	A	2: 25,352,737	T441I	possibly damaging	Het
Dst	C	A	1: 34,202,559	H4001N	probably damaging	Het
Epg5	G	A	18: 77,995,613	A1519T	probably benign	Het
Esrp2	C	T	8: 106,132,188	V606I	probably benign	Het
Fbxo40	T	C	16: 36,968,874	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,598,185	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,166,938	F189L	probably damaging	Het
Heatr5a	G	A	12: 51,956,237	Q161*	probably null	Het
Hspa4l	T	C	3: 40,745,765	Y30H	possibly damaging	Het
Hspg2	G	A	4: 137,511,926	C388Y	probably damaging	Het
Kcna1	A	G	6: 126,642,367	I330T	probably damaging	Het
Klhl3	T	A	13: 58,018,967	Y350F	probably benign	Het
Kntc1	T	C	5: 123,781,055		probably null	Het
Krtap10-4	A	T	10: 77,826,686	C109*	probably null	Het
Lrch4	T	C	5: 137,637,917	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,607,483	H375N	probably damaging	Het
Lsg1	T	C	16: 30,561,720	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,510,697		probably benign	Het
Med12l	C	A	3: 59,259,688	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,411,465		probably benign	Het
Mzb1	T	A	18: 35,647,664	Y158F	probably benign	Het
Nat8l	T	A	5: 33,998,479	C160S	probably damaging	Het
Ncf4	T	C	15: 78,262,393		probably benign	Het
Olfr362	A	T	2: 37,104,802	Y283N	probably damaging	Het
Olfr98	T	C	17: 37,262,839	Y275C	probably damaging	Het
Pak2	T	A	16: 32,043,118		probably benign	Het
Pcdhga12	T	C	18: 37,768,107	I664T	probably benign	Het
Pcnx2	A	C	8: 125,838,010	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,675,585	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,433,302	V522D	probably benign	Het
Plekhh1	A	T	12: 79,069,106	M808L	probably benign	Het
Plpp2	C	A	10: 79,527,139	R157L	probably benign	Het
Pnpla6	T	C	8: 3,522,613	V300A	probably damaging	Het
Ptprb	A	T	10: 116,348,183	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,612,723	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,964,107	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,398,361		probably null	Het
Rrp1b	T	A	17: 32,036,471		probably benign	Het
Ruvbl1	T	C	6: 88,497,290	I425T	probably benign	Het
Sipa1l1	C	T	12: 82,440,908	A1652V	probably benign	Het
Slc12a2	A	G	18: 57,899,272	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,195,748	V219L	possibly damaging	Het
Smc1b	G	T	15: 85,064,984	P1242Q	probably damaging	Het
Snx27	T	A	3: 94,524,244	D281V	probably damaging	Het
Spem2	C	T	11: 69,817,147	V331I	probably benign	Het
Sptb	C	A	12: 76,609,278	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,413,659	I236V	probably benign	Het
Syk	A	G	13: 52,611,035	E66G	probably damaging	Het
Synm	T	A	7: 67,735,658	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,210	A284V	probably benign	Het
Tlr11	A	G	14: 50,363,121	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,245,951		probably benign	Het
Trappc8	G	A	18: 20,844,180	T844I	probably benign	Het
Trmt44	T	C	5: 35,565,468	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,241,748	V396E	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 140,007,441	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,410,623	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 42,300,529	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,445,784	M45K	probably benign	Het
Zfp383	T	A	7: 29,914,741	D140E	probably damaging	Het
Zfp712	C	A	13: 67,041,361	K367N	probably damaging	Het
Zfp763	C	T	17: 33,018,975	A399T	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
R3406:Plrg1	UTSW	3	83071219	missense	probably damaging	1.00
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'- GGGATTTACGCTAGGAACTGC -3'
(R):5'- ATGAGCAGTCCTTGTCAAATTG -3'

Sequencing Primer
(F):5'- AAAGAGATAGTGTGTGTGTGTGAG -3'
(R):5'- CCAGAGGTACCATGTGATACCTTG -3'

Posted On

2016-06-15