Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Plrg1'

601341

Institutional Source

Beutler Lab

Gene Symbol

Plrg1

Ensembl Gene

ENSMUSG00000027998

Gene Name

pleiotropic regulator 1

Synonyms

Tango4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83055522-83072355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83056837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 26 (V26M)

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: V26M

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

SMART Domains

Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: V26M

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: V26M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: V26M

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: V26M

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

SMART Domains

Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: V26M

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,850,602	G20R	not run	Het
4931409K22Rik	G	T	5: 24,545,422	Q626K	possibly damaging	Het
Adamts13	A	T	2: 26,996,549	M927L	probably benign	Het
Akap6	T	A	12: 53,140,961	N1719K	probably benign	Het
Ank3	G	A	10: 69,986,904	V468M		Het
Aox1	A	G	1: 58,085,467	T956A	probably benign	Het
Ap4m1	T	C	5: 138,174,817	V140A	probably benign	Het
Apc	A	G	18: 34,272,539	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,334,619	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,482,806	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706	W1269R	probably damaging	Het
Capn2	G	C	1: 182,492,146	P159R	probably damaging	Het
Ccdc134	T	G	15: 82,131,523	V68G	probably damaging	Het
Cdh26	A	G	2: 178,470,035	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347	V373I	probably benign	Het
Clpx	T	C	9: 65,324,301		probably null	Het
Ctnnd2	A	T	15: 31,020,728	Y1145F	probably benign	Het
Ctr9	T	A	7: 111,033,927	D127E	probably benign	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,097,302	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,116,691	D125V	possibly damaging	Het
Dbh	A	T	2: 27,174,848	Y357F	probably damaging	Het
Dbp	T	A	7: 45,706,990	L175Q	probably benign	Het
Dmwd	A	T	7: 19,080,843	T473S	probably benign	Het
Dnah9	T	A	11: 66,005,660	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,854,176	K498R	probably benign	Het
Dopey2	T	A	16: 93,799,971	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,338,515		probably null	Het
Dzank1	T	C	2: 144,522,564	T38A	probably damaging	Het
Egfem1	A	G	3: 29,686,791	H538R	probably damaging	Het
Entpd1	T	C	19: 40,727,447	C353R	probably damaging	Het
Ephx2	C	A	14: 66,110,229	C78F	probably benign	Het
Faf2	A	T	13: 54,660,961	H388L	probably benign	Het
Fam186a	G	A	15: 99,944,664	T1233I	possibly damaging	Het
Gfra2	C	A	14: 70,895,970	A80E	probably damaging	Het
Gif	C	A	19: 11,750,187	P125Q	probably benign	Het
Gm17175	T	A	14: 51,574,035		probably benign	Het
Gm8180	T	C	14: 43,783,646	D35G	possibly damaging	Het
Gm884	T	A	11: 103,614,173	H2323L	possibly damaging	Het
Gpr68	C	T	12: 100,879,043	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,810,943	L35P	probably damaging	Het
Hspd1	A	C	1: 55,078,644	V485G	possibly damaging	Het
Il16	A	G	7: 83,670,140	V381A	possibly damaging	Het
Il17rd	G	A	14: 27,100,117	C600Y	probably benign	Het
Ins2	C	A	7: 142,679,586		probably benign	Het
Itsn2	T	C	12: 4,658,561	I872T	probably benign	Het
Jakmip3	A	T	7: 139,019,129	D219V	probably damaging	Het
Jph4	T	C	14: 55,109,735	T452A	probably damaging	Het
Kazn	T	C	4: 142,210,170	E12G	unknown	Het
Kif20b	A	C	19: 34,950,955	S1206R	possibly damaging	Het
Lca5l	A	G	16: 96,162,557		probably null	Het
Lgals2	A	T	15: 78,851,333	S60R	probably benign	Het
Map10	A	G	8: 125,671,611	E581G	probably benign	Het
Map2k7	G	T	8: 4,243,744	R128L	probably benign	Het
Mapk8	G	C	14: 33,410,877	S34*	probably null	Het
Mcat	A	G	15: 83,547,909	Y253H	probably damaging	Het
Mmp2	T	C	8: 92,850,170	L607P	probably benign	Het
Ncor1	A	T	11: 62,333,926	V836E	probably damaging	Het
Neb	A	G	2: 52,137,380	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,524,272	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,544,403	D749Y	probably damaging	Het
Olfr115	T	A	17: 37,610,656	T32S	probably benign	Het
Olfr1185-ps1	A	G	2: 88,499,072		probably benign	Het
Olfr175-ps1	T	C	16: 58,824,002	K236E	probably damaging	Het
Olfr338	T	C	2: 36,376,809	I11T	possibly damaging	Het
Osbpl11	A	T	16: 33,210,061	R220*	probably null	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,352,262	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,225,015	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,292,960	S38P	possibly damaging	Het
Psg23	A	T	7: 18,606,914	*472R	probably null	Het
Rapgef4	A	T	2: 72,223,117	M587L	probably benign	Het
Rfx3	T	A	19: 27,826,070	M247L	probably benign	Het
Rgs7	T	A	1: 175,076,069	H463L	probably benign	Het
Riiad1	G	T	3: 94,465,855	S106R	probably benign	Het
Rims4	A	C	2: 163,918,628	I19S	probably benign	Het
Ros1	A	T	10: 52,096,137	M1648K	probably benign	Het
Rrn3	T	C	16: 13,811,589	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,091,231	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 78,698,573		probably null	Het
Slc25a16	A	T	10: 62,937,420	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728		probably benign	Het
Stat5a	T	G	11: 100,875,027	L313R	probably damaging	Het
Strap	A	G	6: 137,741,978	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,841,079	L703R	probably damaging	Het
Trim36	A	T	18: 46,167,624	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,775,524	D980E	probably damaging	Het
Usp28	T	C	9: 49,003,918	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,427,873	R203S	probably benign	Het
Vmn2r66	T	C	7: 85,007,264	I181M	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp442	C	T	2: 150,409,482	D167N	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
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
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
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'- ACAGGAGCTTTCTCATCTTCG -3'
(R):5'- ACTTGCTATTGCCCAAGCGTC -3'

Sequencing Primer
(F):5'- ATTGAGGAGTGTATATCCTTCTCC -3'
(R):5'- AAGCGTCCTGTGAGTATGCAC -3'

Posted On

2019-11-26