Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Luzp2'

46067

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0564 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

54835498-55268885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54835962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 2 (K2E)

Ref Sequence

ENSEMBL: ENSMUSP00000080979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082373]

AlphaFold

Q8BGY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000082373
AA Change: K2E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: K2E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	131	146	N/A	INTRINSIC
coiled coil region	168	211	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206923

Meta Mutation Damage Score

0.1028

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

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 leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no overt abnormalities. [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
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	Het

Other mutations in Luzp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Luzp2	APN	7	55075026	missense	probably damaging	1.00
IGL01793:Luzp2	APN	7	55172249	missense	probably damaging	1.00
IGL01908:Luzp2	APN	7	55172196	missense	probably damaging	1.00
IGL02538:Luzp2	APN	7	55211798	nonsense	probably null
IGL02727:Luzp2	APN	7	55172191	splice site	probably benign
R0257:Luzp2	UTSW	7	55249446	missense	probably benign	0.17
R1581:Luzp2	UTSW	7	55249490	missense	possibly damaging	0.84
R1648:Luzp2	UTSW	7	55264270	splice site	probably null
R1752:Luzp2	UTSW	7	55264340	missense	possibly damaging	0.50
R1943:Luzp2	UTSW	7	55264302	missense	possibly damaging	0.61
R2294:Luzp2	UTSW	7	55172190	splice site	probably benign
R2295:Luzp2	UTSW	7	55172190	splice site	probably benign
R4539:Luzp2	UTSW	7	55063289	missense	probably damaging	0.99
R4611:Luzp2	UTSW	7	55063356	splice site	probably null
R4716:Luzp2	UTSW	7	54835962	missense	probably damaging	1.00
R4873:Luzp2	UTSW	7	55167248	missense	possibly damaging	0.69
R4875:Luzp2	UTSW	7	55167248	missense	possibly damaging	0.69
R5108:Luzp2	UTSW	7	55265290	missense	probably damaging	1.00
R6023:Luzp2	UTSW	7	55058067	missense	possibly damaging	0.78
R6034:Luzp2	UTSW	7	55167224	missense	probably damaging	1.00
R6034:Luzp2	UTSW	7	55167224	missense	probably damaging	1.00
R6412:Luzp2	UTSW	7	55058046	missense	probably damaging	1.00
R7116:Luzp2	UTSW	7	55265330	missense	possibly damaging	0.80
R7186:Luzp2	UTSW	7	54835829	start gained	probably benign
R7270:Luzp2	UTSW	7	55075026	missense	probably damaging	0.99
R7588:Luzp2	UTSW	7	55075090	critical splice donor site	probably null
R8036:Luzp2	UTSW	7	55075075	missense	probably damaging	1.00
R8078:Luzp2	UTSW	7	55052762	nonsense	probably null
R8729:Luzp2	UTSW	7	55167237	missense	probably damaging	1.00
R9287:Luzp2	UTSW	7	55264360	splice site	probably benign
R9652:Luzp2	UTSW	7	55052832	missense	probably damaging	1.00
R9653:Luzp2	UTSW	7	55052832	missense	probably damaging	1.00
RF014:Luzp2	UTSW	7	55172205	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATACTCGCACTCTGGTCCTTGTC -3'
(R):5'- TCTCGGTCCCTGAAAGGAAGCAAC -3'

Sequencing Primer
(F):5'- GGTCCTTGTCTTTACAAAGCC -3'
(R):5'- AAAGGTCTCTGCTCTATCCAAGG -3'

Posted On

2013-06-11