Mutagenetix > Incidental Mutation

Incidental Mutation 'R6322:Plagl2'

510141

Institutional Source

Beutler Lab

Gene Symbol

Plagl2

Ensembl Gene

ENSMUSG00000051413

Gene Name

pleiomorphic adenoma gene-like 2

Synonyms

MMRRC Submission

044476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153069689-153083278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153073806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 365 (E365G)

Ref Sequence

ENSEMBL: ENSMUSP00000105419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056924] [ENSMUST00000109795]

AlphaFold

Q925T4

Predicted Effect

probably benign
Transcript: ENSMUST00000056924
AA Change: E365G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413
AA Change: E365G

Domain	Start	End	E-Value	Type
ZnF_C2H2	68	92	5.99e-4	SMART
ZnF_C2H2	98	120	1.03e-2	SMART
ZnF_C2H2	127	149	1.36e-2	SMART
ZnF_C2H2	156	178	6.23e-2	SMART
ZnF_C2H2	191	213	1.26e-2	SMART
ZnF_C2H2	219	242	3.11e-2	SMART
low complexity region	324	340	N/A	INTRINSIC
low complexity region	369	397	N/A	INTRINSIC
low complexity region	417	432	N/A	INTRINSIC
low complexity region	443	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109795
AA Change: E365G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413
AA Change: E365G

Domain	Start	End	E-Value	Type
ZnF_C2H2	68	92	5.99e-4	SMART
ZnF_C2H2	98	120	1.03e-2	SMART
ZnF_C2H2	127	149	1.36e-2	SMART
ZnF_C2H2	156	178	6.23e-2	SMART
ZnF_C2H2	191	213	1.26e-2	SMART
ZnF_C2H2	219	242	3.11e-2	SMART
low complexity region	324	340	N/A	INTRINSIC
low complexity region	369	397	N/A	INTRINSIC
low complexity region	417	432	N/A	INTRINSIC
low complexity region	443	458	N/A	INTRINSIC

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal death due to a failure to absorb lipids in the intestine and other organs. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,559,843 (GRCm39)	V211A	probably benign	Het
Adora3	G	A	3: 105,814,760 (GRCm39)	R170H	probably benign	Het
Aldh1l1	T	C	6: 90,539,680 (GRCm39)	I203T	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Atcay	A	T	10: 81,049,125 (GRCm39)	I159K	probably damaging	Het
Blvra	A	G	2: 126,922,459 (GRCm39)		probably benign	Het
Catspere2	T	A	1: 177,845,296 (GRCm39)	Y105*	probably null	Het
Celsr2	A	G	3: 108,319,890 (GRCm39)	F974S	probably damaging	Het
Cfap44	C	T	16: 44,254,029 (GRCm39)	R918*	probably null	Het
Cpa6	T	A	1: 10,547,346 (GRCm39)	R181S	possibly damaging	Het
Dlg1	A	G	16: 31,675,297 (GRCm39)	N730D	probably damaging	Het
Eif2ak1	A	G	5: 143,835,913 (GRCm39)	T535A	probably benign	Het
Fam13c	A	T	10: 70,334,721 (GRCm39)	D149V	probably damaging	Het
Fam171a1	G	A	2: 3,227,392 (GRCm39)	V717I	probably benign	Het
Fchsd1	A	G	18: 38,098,753 (GRCm39)	V290A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15446	A	T	5: 110,091,383 (GRCm39)	H545L	probably damaging	Het
Heatr9	T	G	11: 83,407,538 (GRCm39)	K215T	possibly damaging	Het
Hfe	T	A	13: 23,889,879 (GRCm39)	H210L	probably damaging	Het
Lama2	T	C	10: 27,066,543 (GRCm39)	T1113A	probably damaging	Het
Lipe	A	T	7: 25,079,961 (GRCm39)	V686E	probably damaging	Het
Map3k20	T	G	2: 72,263,814 (GRCm39)	L488V	possibly damaging	Het
Moxd1	C	T	10: 24,160,709 (GRCm39)	T454I	probably damaging	Het
Mrpl58	C	T	11: 115,301,492 (GRCm39)	R189*	probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nkx1-1	T	C	5: 33,588,389 (GRCm39)	N300D	probably damaging	Het
Nrm	A	T	17: 36,175,605 (GRCm39)	Q237L	possibly damaging	Het
Numa1	T	C	7: 101,650,127 (GRCm39)	L1286P	probably damaging	Het
Or4f4-ps1	T	C	2: 111,329,729 (GRCm39)	F44S	possibly damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Pds5a	T	C	5: 65,854,177 (GRCm39)	I22V	probably benign	Het
Phf21b	C	A	15: 84,671,580 (GRCm39)	R438L	possibly damaging	Het
Pik3r5	T	C	11: 68,383,567 (GRCm39)	L462P	probably benign	Het
Plxna2	A	G	1: 194,436,675 (GRCm39)	Y677C	possibly damaging	Het
Pramel13	A	G	4: 144,119,475 (GRCm39)	M364T	probably benign	Het
Prkcd	C	A	14: 30,321,620 (GRCm39)	G410W	probably damaging	Het
Rgl1	T	C	1: 152,428,186 (GRCm39)	I348V	probably damaging	Het
Rnmt	C	T	18: 68,452,285 (GRCm39)	P386S	probably damaging	Het
Rtn3	G	A	19: 7,435,503 (GRCm39)	P163L	possibly damaging	Het
Sfxn1	T	C	13: 54,258,869 (GRCm39)	C275R	possibly damaging	Het
Sh2b2	A	G	5: 136,253,042 (GRCm39)	S377P	probably damaging	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Simc1	T	C	13: 54,698,382 (GRCm39)	L1334S	probably damaging	Het
Slc9a2	C	A	1: 40,781,813 (GRCm39)	Y347*	probably null	Het
Snapc5	T	A	9: 64,089,455 (GRCm39)	I71K	probably damaging	Het
Tmem161a	T	C	8: 70,634,764 (GRCm39)	F447S	probably damaging	Het
Tns3	A	G	11: 8,442,147 (GRCm39)	C739R	probably benign	Het
Trappc11	A	T	8: 47,983,808 (GRCm39)	V28D	possibly damaging	Het
Ubr3	C	T	2: 69,786,429 (GRCm39)	Q848*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het

Other mutations in Plagl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Plagl2	APN	2	153,074,574 (GRCm39)	missense	probably damaging	1.00
IGL02655:Plagl2	APN	2	153,074,337 (GRCm39)	missense	probably damaging	1.00
IGL02927:Plagl2	APN	2	153,074,199 (GRCm39)	missense	probably damaging	1.00
8_ball	UTSW	2	153,074,114 (GRCm39)	nonsense	probably null
1mM(1):Plagl2	UTSW	2	153,073,992 (GRCm39)	missense	probably benign	0.37
R0149:Plagl2	UTSW	2	153,073,523 (GRCm39)	missense	probably benign
R0361:Plagl2	UTSW	2	153,073,523 (GRCm39)	missense	probably benign
R0605:Plagl2	UTSW	2	153,077,864 (GRCm39)	missense	probably benign
R0624:Plagl2	UTSW	2	153,077,973 (GRCm39)	missense	probably benign
R0839:Plagl2	UTSW	2	153,074,461 (GRCm39)	missense	probably damaging	1.00
R1735:Plagl2	UTSW	2	153,074,397 (GRCm39)	missense	probably damaging	1.00
R5083:Plagl2	UTSW	2	153,077,964 (GRCm39)	missense	probably benign
R5213:Plagl2	UTSW	2	153,074,239 (GRCm39)	missense	probably damaging	1.00
R5327:Plagl2	UTSW	2	153,077,759 (GRCm39)	missense	possibly damaging	0.95
R5473:Plagl2	UTSW	2	153,074,114 (GRCm39)	nonsense	probably null
R6334:Plagl2	UTSW	2	153,074,611 (GRCm39)	missense	probably benign	0.02
R6931:Plagl2	UTSW	2	153,077,863 (GRCm39)	missense	probably benign	0.07
R8223:Plagl2	UTSW	2	153,073,461 (GRCm39)	missense	probably benign	0.15
R8230:Plagl2	UTSW	2	153,074,239 (GRCm39)	missense	probably damaging	1.00
R8975:Plagl2	UTSW	2	153,074,346 (GRCm39)	missense	possibly damaging	0.95
R9151:Plagl2	UTSW	2	153,074,540 (GRCm39)	missense	probably damaging	1.00
R9385:Plagl2	UTSW	2	153,074,238 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAACCAAGCCTCCTGTGG -3'
(R):5'- TATGTATGGTGCCCACATCC -3'

Sequencing Primer
(F):5'- TAGGTTGAGCGGAAGAAAGCCC -3'
(R):5'- GGTGCCCACATCCCTACCATG -3'

Posted On

2018-04-02