Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Plrg1'

552373

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82962845-82979598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82967222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 131 (P131L)

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: P131L

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

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: P131L

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: P122L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: P122L

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: P131L

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

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: P131L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	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
R7530:Plrg1	UTSW	3	82,965,989 (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'- CCAAGCTGCTTGTGTTCAGTC -3'
(R):5'- AAGGTGGATAGATTGCATCTGG -3'

Sequencing Primer
(F):5'- CTGCTTGTGTTCAGTCAAATTTGATC -3'
(R):5'- AAGCCTGCAAACACTGAG -3'

Posted On

2019-05-15