Mutagenetix > Incidental Mutation

Incidental Mutation 'R5473:Plagl2'

433913

Institutional Source

Beutler Lab

Gene Symbol

Plagl2

Ensembl Gene

ENSMUSG00000051413

Gene Name

pleiomorphic adenoma gene-like 2

Synonyms

MMRRC Submission

043034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153069689-153083278 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 153074114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 262 (C262*)

Ref Sequence

ENSEMBL: ENSMUSP00000105419 (fasta)

Gene Model

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

AlphaFold

Q925T4

Predicted Effect

probably null
Transcript: ENSMUST00000056924
AA Change: C262*

SMART Domains

Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413
AA Change: C262*

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 null
Transcript: ENSMUST00000109795
AA Change: C262*

SMART Domains

Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413
AA Change: C262*

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

0.9755

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	C	7: 119,312,173 (GRCm39)	Y549H	probably damaging	Het
Adamtsl4	G	T	3: 95,587,303 (GRCm39)	Q758K	probably damaging	Het
Anapc1	G	T	2: 128,449,115 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,492,797 (GRCm39)	C1316S	probably benign	Het
Birc5	T	C	11: 117,743,533 (GRCm39)	V89A	possibly damaging	Het
Camk2d	G	T	3: 126,391,048 (GRCm39)		probably benign	Het
Ccdc47	A	T	11: 106,095,855 (GRCm39)	S280R	probably damaging	Het
Cntnap5a	T	A	1: 116,016,986 (GRCm39)	F193Y	probably benign	Het
Cntrob	G	T	11: 69,213,579 (GRCm39)	D70E	possibly damaging	Het
Col24a1	A	C	3: 145,243,016 (GRCm39)	M1519L	probably benign	Het
Col2a1	G	T	15: 97,885,370 (GRCm39)	A491D	unknown	Het
Crat	A	G	2: 30,297,726 (GRCm39)	L266P	probably damaging	Het
Dlgap1	A	T	17: 70,824,025 (GRCm39)		probably benign	Het
Dnaaf10	T	C	11: 17,174,591 (GRCm39)	V153A	probably damaging	Het
Eya4	T	A	10: 23,039,351 (GRCm39)	H104L	probably benign	Het
Fam83b	T	C	9: 76,398,782 (GRCm39)	K774E	probably damaging	Het
Fgd6	T	C	10: 93,880,538 (GRCm39)	I464T	probably benign	Het
Gorasp2	A	C	2: 70,508,950 (GRCm39)	M123L	probably damaging	Het
H2-M10.3	A	T	17: 36,678,261 (GRCm39)	V188E	probably damaging	Het
Hnrnpk	A	T	13: 58,541,913 (GRCm39)	W333R	probably damaging	Het
Hrh4	T	C	18: 13,154,985 (GRCm39)	Y175H	probably benign	Het
Igf2r	G	T	17: 12,914,201 (GRCm39)	T1756K	probably benign	Het
Kcnq5	A	G	1: 21,527,626 (GRCm39)		probably null	Het
Kiz	G	T	2: 146,811,915 (GRCm39)	E675*	probably null	Het
Mcm3ap	T	G	10: 76,338,593 (GRCm39)	L1407R	probably damaging	Het
Mdc1	A	G	17: 36,158,952 (GRCm39)	D444G	probably benign	Het
Myl3	C	A	9: 110,597,026 (GRCm39)	H129N	probably damaging	Het
Neo1	T	C	9: 58,788,126 (GRCm39)	N1309S	possibly damaging	Het
Nrxn1	A	T	17: 90,897,520 (GRCm39)	Y269N	probably damaging	Het
Nsd1	A	G	13: 55,395,585 (GRCm39)	N1165S	probably damaging	Het
Nuf2	T	C	1: 169,334,856 (GRCm39)	D302G	probably benign	Het
Olfr908	A	G	9: 38,427,508 (GRCm39)	Y60C	probably damaging	Het
Or10j3	G	C	1: 173,031,732 (GRCm39)	G270R	probably benign	Het
Or14j1	T	C	17: 38,146,630 (GRCm39)	F247L	probably benign	Het
Or5d38	A	T	2: 87,954,981 (GRCm39)	M116K	possibly damaging	Het
Oxsm	A	T	14: 16,242,045 (GRCm38)	S241R	probably damaging	Het
Pde1a	G	T	2: 79,736,372 (GRCm39)	S87R	probably damaging	Het
Plcg2	A	G	8: 118,361,140 (GRCm39)	K1233R	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Ppfia1	A	T	7: 144,045,229 (GRCm39)	M951K	probably benign	Het
Pramel12	A	G	4: 143,145,874 (GRCm39)	R448G	probably damaging	Het
Prpf31	A	G	7: 3,642,824 (GRCm39)	K438E	probably benign	Het
Pum3	C	A	19: 27,396,248 (GRCm39)	V328F	probably damaging	Het
Ralgapa1	T	C	12: 55,723,495 (GRCm39)	E1677G	probably benign	Het
Rpf2	A	G	10: 40,103,627 (GRCm39)	V96A	possibly damaging	Het
Rsrc2	C	T	5: 123,869,150 (GRCm39)	A98T	probably damaging	Het
Saraf	G	A	8: 34,628,412 (GRCm39)	R86Q	probably damaging	Het
Scara5	T	A	14: 65,977,788 (GRCm39)	D349E	possibly damaging	Het
Slc30a1	T	C	1: 191,641,734 (GRCm39)	V460A	possibly damaging	Het
Tdrd7	G	T	4: 46,020,877 (GRCm39)	V768L	possibly damaging	Het
Tshz2	T	C	2: 169,725,718 (GRCm39)	S105P	probably benign	Het
Ufsp2	A	G	8: 46,445,258 (GRCm39)	I362M	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,159 (GRCm39)	I106K	probably benign	Het
Zdhhc5	A	G	2: 84,520,810 (GRCm39)	Y456H	probably damaging	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
R6322:Plagl2	UTSW	2	153,073,806 (GRCm39)	missense	probably benign	0.11
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'- GTAACTCATACCCATGGGCAG -3'
(R):5'- ACCCCTGTGACCATTGTGAC -3'

Sequencing Primer
(F):5'- CATACCCATGGGCAGTGTGTTG -3'
(R):5'- ACCATTGTGACAGGCGGTTCTATAC -3'

Posted On

2016-10-06