Mutagenetix > Incidental Mutation

Incidental Mutation 'R7530:Plrg1'

583251

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

045602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82962845-82979598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82965989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 48 (L48H)

Ref Sequence

ENSEMBL: ENSMUSP00000114968 (fasta)

Gene Model

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

AlphaFold

Q922V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029628
AA Change: L48H

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

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: L48H

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: L48H

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

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: L48H

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

probably damaging
Transcript: ENSMUST00000150268
AA Change: L48H

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

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: L48H

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

0.2587

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Atp10a	A	G	7: 58,423,724 (GRCm39)	T230A	probably benign	Het
Atp5mc2	A	T	15: 102,576,183 (GRCm39)	M1K	probably null	Het
Atp8a1	A	C	5: 67,902,971 (GRCm39)	L535R		Het
Bsn	A	G	9: 107,989,155 (GRCm39)	I2199T	probably damaging	Het
Ccdc73	A	G	2: 104,824,915 (GRCm39)	T155A		Het
Cdc42bpg	T	G	19: 6,372,305 (GRCm39)	F1430L	probably benign	Het
Cdc42bpg	G	T	19: 6,372,306 (GRCm39)	V1431L	probably benign	Het
Chat	A	T	14: 32,130,915 (GRCm39)	Y575*	probably null	Het
Cimip4	T	C	15: 78,270,516 (GRCm39)	D84G	probably benign	Het
Col6a4	A	T	9: 105,945,589 (GRCm39)	C842S	probably damaging	Het
Coq2	T	C	5: 100,822,008 (GRCm39)	S34G	probably benign	Het
Crybg1	C	T	10: 43,875,069 (GRCm39)	A680T	possibly damaging	Het
Ctsr	T	A	13: 61,310,931 (GRCm39)	K38N	probably damaging	Het
Dpm2	T	C	2: 32,462,313 (GRCm39)	F33S	probably damaging	Het
Ecpas	A	G	4: 58,815,317 (GRCm39)	M1322T	probably damaging	Het
Ext2	T	A	2: 93,491,998 (GRCm39)	H564L	probably benign	Het
Fbxl2	G	T	9: 113,818,241 (GRCm39)	H202N	probably benign	Het
Fra10ac1	A	T	19: 38,204,353 (GRCm39)	Y74*	probably null	Het
Greb1	T	A	12: 16,767,207 (GRCm39)	I332F	probably benign	Het
Ifnar2	A	G	16: 91,201,201 (GRCm39)	S481G	probably benign	Het
Igkv9-123	G	A	6: 67,931,381 (GRCm39)	P62S	possibly damaging	Het
Iqub	T	C	6: 24,450,622 (GRCm39)	Q659R	probably benign	Het
Kansl2	T	C	15: 98,426,896 (GRCm39)	T242A	probably benign	Het
Kif28	C	T	1: 179,536,045 (GRCm39)	G543D	probably benign	Het
Lsg1	A	G	16: 30,401,419 (GRCm39)	S93P	possibly damaging	Het
Med23	T	A	10: 24,781,851 (GRCm39)	C1052S	probably benign	Het
Mgam	G	T	6: 40,686,152 (GRCm39)		probably null	Het
Mtmr4	C	T	11: 87,502,702 (GRCm39)	R919W	probably damaging	Het
Muc5ac	G	T	7: 141,367,536 (GRCm39)	V2986L	possibly damaging	Het
Myo5b	A	G	18: 74,864,802 (GRCm39)	E1340G	probably benign	Het
Nkd2	T	C	13: 73,995,078 (GRCm39)	D40G	possibly damaging	Het
Nudt5	T	C	2: 5,869,179 (GRCm39)	L135S	probably damaging	Het
Oca2	A	C	7: 55,981,720 (GRCm39)	D614A	probably damaging	Het
Or1e16	A	G	11: 73,279,189 (GRCm39)	V221A	possibly damaging	Het
Or6c201	A	C	10: 128,969,849 (GRCm39)		probably null	Het
Or8k24	T	A	2: 86,216,515 (GRCm39)	L82F	probably damaging	Het
Plec	C	A	15: 76,069,844 (GRCm39)	A991S	unknown	Het
Plekhg2	G	A	7: 28,061,353 (GRCm39)	R817C	probably damaging	Het
Prx	A	G	7: 27,207,397 (GRCm39)	E18G	probably damaging	Het
Ptprf	T	C	4: 118,069,945 (GRCm39)	Y1479C	probably damaging	Het
Rap1b	A	T	10: 117,653,357 (GRCm39)	Y159*	probably null	Het
Rbck1	T	C	2: 152,166,212 (GRCm39)	E242G	possibly damaging	Het
Rxfp1	T	C	3: 79,557,768 (GRCm39)	D570G	probably benign	Het
Slc35f5	G	T	1: 125,512,275 (GRCm39)	L358F	probably damaging	Het
Smarcd2	A	G	11: 106,156,587 (GRCm39)	W274R	probably damaging	Het
Spata6l	A	T	19: 28,926,121 (GRCm39)	Y43*	probably null	Het
Ssu72	A	G	4: 155,815,786 (GRCm39)	T77A	probably benign	Het
Tomm40	G	A	7: 19,436,829 (GRCm39)	T297I	possibly damaging	Het
Urb1	A	T	16: 90,558,522 (GRCm39)	I1743N	probably damaging	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het

Other mutations in Plrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Plrg1	APN	3	82,977,980 (GRCm39)	missense	probably damaging	0.99
IGL00824:Plrg1	APN	3	82,975,642 (GRCm39)	missense	probably damaging	1.00
IGL00948:Plrg1	APN	3	82,975,426 (GRCm39)	missense	probably damaging	1.00
IGL02550:Plrg1	APN	3	82,968,430 (GRCm39)	critical splice donor site	probably null
R0743:Plrg1	UTSW	3	82,967,224 (GRCm39)	missense	probably benign	0.11
R1624:Plrg1	UTSW	3	82,977,051 (GRCm39)	missense	probably damaging	1.00
R1624:Plrg1	UTSW	3	82,975,301 (GRCm39)	splice site	probably benign
R1630:Plrg1	UTSW	3	82,966,070 (GRCm39)	missense	probably benign	0.00
R1876:Plrg1	UTSW	3	82,976,375 (GRCm39)	splice site	probably benign
R2383:Plrg1	UTSW	3	82,973,255 (GRCm39)	missense	probably damaging	1.00
R2892:Plrg1	UTSW	3	82,978,547 (GRCm39)	missense	probably damaging	1.00
R3406:Plrg1	UTSW	3	82,978,526 (GRCm39)	missense	probably damaging	1.00
R5114:Plrg1	UTSW	3	82,978,558 (GRCm39)	missense	probably benign	0.13
R5922:Plrg1	UTSW	3	82,964,155 (GRCm39)	missense	possibly damaging	0.77
R6333:Plrg1	UTSW	3	82,964,102 (GRCm39)	missense	probably damaging	1.00
R7127:Plrg1	UTSW	3	82,967,222 (GRCm39)	missense	probably damaging	1.00
R7814:Plrg1	UTSW	3	82,964,144 (GRCm39)	missense	probably damaging	1.00
R8123:Plrg1	UTSW	3	82,973,237 (GRCm39)	missense	probably benign	0.16
R8131:Plrg1	UTSW	3	82,977,081 (GRCm39)	missense	probably damaging	1.00
R9332:Plrg1	UTSW	3	82,976,308 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- ACTATGTAGCTTGAGAAACCTCC -3'
(R):5'- TGACGAGCTCATCAAAACGG -3'

Sequencing Primer
(F):5'- CTGCATCTGTGACATGGAGTACC -3'
(R):5'- CAGGGAAGCTCTAAGGAGACATTTTC -3'

Posted On

2019-10-17