Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Plrg1'

174860

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83055522-83072355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83069744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 364 (R364Q)

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: R364Q

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

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: R364Q

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: R355Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: R355Q

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: R364Q

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: R364Q

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,746	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,434,111	H81L	probably damaging	Het
Acbd4	A	G	11: 103,103,959	T48A	probably damaging	Het
Acpp	T	A	9: 104,320,001	E146D	probably benign	Het
Acsm1	T	A	7: 119,652,573	I307N	probably damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agl	T	C	3: 116,787,246	T356A	probably benign	Het
Ago1	A	G	4: 126,463,741	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,446,364	Y75N	probably benign	Het
Anxa2	T	A	9: 69,479,708	S92T	probably benign	Het
Arid4b	T	C	13: 14,184,394	S585P	probably damaging	Het
Arl4d	T	C	11: 101,667,016	S123P	possibly damaging	Het
Atad2	A	T	15: 58,100,019	D1067E	probably damaging	Het
Brap	C	A	5: 121,682,859	T403K	possibly damaging	Het
Brwd1	A	T	16: 96,008,144	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,281,075	T464A	probably benign	Het
Cdh11	T	C	8: 102,664,601		probably benign	Het
Chd9	A	T	8: 90,998,535	Y691F	probably benign	Het
Clhc1	A	T	11: 29,569,287	I365F	possibly damaging	Het
Col11a1	A	G	3: 114,158,155	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,888,470	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,390,415		probably null	Het
Dnah3	A	T	7: 120,019,695	I1661N	probably damaging	Het
Dpysl4	A	C	7: 139,089,553	D49A	probably damaging	Het
Efhb	T	A	17: 53,426,278	I522F	probably damaging	Het
Epha4	T	C	1: 77,399,692	T517A	probably damaging	Het
Fasn	A	G	11: 120,813,111	S1466P	probably damaging	Het
Fgd6	A	T	10: 94,137,436	D1253V	probably benign	Het
Fjx1	G	A	2: 102,451,164	A142V	probably benign	Het
Foxb1	T	C	9: 69,759,316	T311A	probably benign	Het
Fpgs	A	G	2: 32,691,188		probably null	Het
Gm10024	A	G	10: 77,711,772		probably null	Het
Gnat3	A	T	5: 18,003,843	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,455,227	F875I	probably benign	Het
Kif13b	A	G	14: 64,738,619	E461G	probably damaging	Het
Kif23	A	T	9: 61,925,700		probably null	Het
Kntc1	G	A	5: 123,758,477	R134Q	possibly damaging	Het
Krt33a	A	T	11: 100,014,246	Y145N	probably damaging	Het
Lama5	A	G	2: 180,206,758	V313A	probably benign	Het
Lamb1	T	C	12: 31,278,652		probably null	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mtor	C	T	4: 148,547,676	L2336F	probably damaging	Het
Naglu	T	C	11: 101,076,525	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,704,659	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,445,189	T733I	possibly damaging	Het
Nr3c2	A	G	8: 76,909,944	E558G	probably damaging	Het
Nsun4	A	T	4: 116,034,200	N327K	probably benign	Het
Olfr1310	T	A	2: 112,008,532	Y218F	probably damaging	Het
Olfr165	T	A	16: 19,407,704	Y104F	probably benign	Het
Olfr524	T	C	7: 140,201,951	N273S	probably damaging	Het
Olfr54	T	C	11: 51,027,125	V41A	probably damaging	Het
Olfr743	A	G	14: 50,533,643	Y77C	probably damaging	Het
Pdia2	T	A	17: 26,196,521	I441F	probably damaging	Het
Phyh	T	C	2: 4,925,683	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661	L146P	probably damaging	Het
Plce1	A	G	19: 38,724,775	D1191G	probably damaging	Het
Polr3b	T	C	10: 84,679,805	L614S	probably damaging	Het
Pramef25	A	T	4: 143,949,830	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,832,682	V193A	probably damaging	Het
Prss16	T	A	13: 22,003,313	E47V	probably benign	Het
Ptpru	G	A	4: 131,772,550	T1261I	probably damaging	Het
Pycard	A	G	7: 127,992,798	S124P	possibly damaging	Het
Riok1	C	A	13: 38,037,511	D17E	probably damaging	Het
Scin	T	A	12: 40,127,930	Y102F	probably benign	Het
Scmh1	A	G	4: 120,529,228	H655R	probably damaging	Het
Scyl2	A	T	10: 89,640,736	N842K	probably benign	Het
Sec23b	T	A	2: 144,567,129	M211K	probably benign	Het
Serpina3i	A	C	12: 104,268,638	*409C	probably null	Het
Sgk2	G	A	2: 162,997,859	R129H	probably benign	Het
Slc39a13	A	G	2: 91,068,526	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,052,647	D73G	probably benign	Het
Spata18	A	C	5: 73,669,545	T276P	probably damaging	Het
Srgap1	T	G	10: 121,855,373	M319L	probably benign	Het
Stx7	T	A	10: 24,185,005	V210E	probably damaging	Het
Tjp2	T	A	19: 24,131,412	H112L	probably benign	Het
Tuba8	A	T	6: 121,220,426	I16F	probably damaging	Het
Ube3c	G	A	5: 29,646,619	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,509,695	V14E	probably benign	Het
Vmn2r79	A	T	7: 87,004,039		probably null	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Zdbf2	A	G	1: 63,303,859	T466A	possibly 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
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
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'- ACTCTCTACCGCCTCTGGCAAA -3'
(R):5'- TGGGAACTGAAAGGCCGTCCTAA -3'

Sequencing Primer
(F):5'- GGATTTTGAGGAAATGATTCACAGTG -3'
(R):5'- GTCCTAAGCAGCACAGGC -3'

Posted On

2014-04-24