Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Luzp2'

662649

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54835498-55268885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55167237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 145 (K145R)

Ref Sequence

ENSEMBL: ENSMUSP00000080979 (fasta)

Gene Model

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

AlphaFold

Q8BGY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000082373
AA Change: K145R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: K145R

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

Meta Mutation Damage Score

0.1112

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	C	A	6: 116,651,801	P35H	probably damaging	Het
Adam4	A	T	12: 81,421,402	Y148*	probably null	Het
Ank3	A	G	10: 70,002,598	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,295,593	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,890,985	Y391H	probably benign	Het
Calcb	A	C	7: 114,720,193	E70A	probably benign	Het
Ccr1	T	C	9: 123,963,794	K233R	probably benign	Het
Ccz1	T	C	5: 144,011,492	D115G	probably damaging	Het
Col14a1	T	A	15: 55,447,497	L1203*	probably null	Het
Csmd2	G	A	4: 128,462,845	D1648N		Het
Csn1s1	T	C	5: 87,677,139		probably null	Het
Eif2ak3	C	A	6: 70,844,880	P52Q	probably benign	Het
Fam129b	T	A	2: 32,909,934	L91Q	probably damaging	Het
Galnt18	T	C	7: 111,519,991	E441G	probably null	Het
Gm21671	A	G	5: 25,953,180	V58A	probably damaging	Het
Gpat2	C	A	2: 127,433,819	Q506K	probably damaging	Het
Gramd1a	C	A	7: 31,143,823	R20L	possibly damaging	Het
Helz	G	T	11: 107,637,928		probably null	Het
Hif1a	A	G	12: 73,944,128	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,196,632	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,710,511	K331R	probably benign	Het
Klk1b4	T	A	7: 44,207,460	F3I	probably damaging	Het
Krt78	T	G	15: 101,947,020	Q785H	probably damaging	Het
Lsm11	C	T	11: 45,944,900	E5K	possibly damaging	Het
Man2b2	T	C	5: 36,816,118	T506A	probably benign	Het
Msrb3	A	C	10: 120,852,069	C34G	probably null	Het
Muc16	T	C	9: 18,660,050	D391G	unknown	Het
Mybpc2	C	T	7: 44,506,187	V881M	probably damaging	Het
Myh15	A	G	16: 49,061,488	K31R	probably damaging	Het
Ndnf	A	T	6: 65,703,774	K346*	probably null	Het
Nfs1	G	A	2: 156,123,807	T118I	probably benign	Het
Nlrp9c	T	G	7: 26,372,003	K893N	probably benign	Het
Nmd3	A	T	3: 69,748,349	K454N	possibly damaging	Het
Olfr290	T	C	7: 84,916,315	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,402,586	D544E	possibly damaging	Het
Pck1	A	G	2: 173,156,073	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,433,301	V522I	probably benign	Het
Polr3c	C	T	3: 96,727,480		probably benign	Het
Prkd2	T	A	7: 16,849,127	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,256,035	S59P	probably benign	Het
Rxfp4	T	A	3: 88,651,998	N382I	unknown	Het
Sirt1	A	G	10: 63,320,926	F642L	probably damaging	Het
Sp2	T	C	11: 96,961,273	D275G	possibly damaging	Het
Srp72	C	T	5: 76,994,158	T414I	probably benign	Het
Syne1	T	A	10: 5,229,275	M4400L	probably benign	Het
Tbx15	A	T	3: 99,313,060	H156L	possibly damaging	Het
Tbxas1	G	T	6: 39,001,338	M140I	probably benign	Het
Tcof1	G	T	18: 60,829,073	P695T	unknown	Het
Tmprss9	A	T	10: 80,890,343	M476L	probably benign	Het
Trat1	A	T	16: 48,742,228	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,449,022	E856V	probably benign	Het
Ttc28	T	A	5: 111,235,643		probably null	Het
Ttn	AC	A	2: 76,919,184		probably null	Het
Twf1	T	C	15: 94,581,331	N216D	probably benign	Het
Unc80	C	A	1: 66,608,490	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,261,613	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,548,258	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,220,261	N524K	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
R0564:Luzp2	UTSW	7	54835962	missense	probably damaging	1.00
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
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'- TGCCCACGTAAAGCAGAG -3'
(R):5'- CATCTTAGGAACTTTCATTGAATGCAC -3'

Sequencing Primer
(F):5'- CTGTGGAGATCAGAAGACCACTTTC -3'
(R):5'- GGAACTTTCATTGAATGCACTTTTAG -3'

Posted On

2021-03-08