Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Luzp2'

565228

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

9330154K17Rik

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54485246-54918633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54724774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 112 (I112V)

Ref Sequence

ENSEMBL: ENSMUSP00000080979 (fasta)

Gene Model

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

AlphaFold

Q8BGY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000082373
AA Change: I112V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: I112V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	probably damaging	Het

Other mutations in Luzp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Luzp2	APN	7	54,724,774 (GRCm39)	missense	probably damaging	1.00
IGL01793:Luzp2	APN	7	54,821,997 (GRCm39)	missense	probably damaging	1.00
IGL01908:Luzp2	APN	7	54,821,944 (GRCm39)	missense	probably damaging	1.00
IGL02538:Luzp2	APN	7	54,861,546 (GRCm39)	nonsense	probably null
IGL02727:Luzp2	APN	7	54,821,939 (GRCm39)	splice site	probably benign
R0257:Luzp2	UTSW	7	54,899,194 (GRCm39)	missense	probably benign	0.17
R0564:Luzp2	UTSW	7	54,485,710 (GRCm39)	missense	probably damaging	1.00
R1581:Luzp2	UTSW	7	54,899,238 (GRCm39)	missense	possibly damaging	0.84
R1648:Luzp2	UTSW	7	54,914,018 (GRCm39)	splice site	probably null
R1752:Luzp2	UTSW	7	54,914,088 (GRCm39)	missense	possibly damaging	0.50
R1943:Luzp2	UTSW	7	54,914,050 (GRCm39)	missense	possibly damaging	0.61
R2294:Luzp2	UTSW	7	54,821,938 (GRCm39)	splice site	probably benign
R2295:Luzp2	UTSW	7	54,821,938 (GRCm39)	splice site	probably benign
R4539:Luzp2	UTSW	7	54,713,037 (GRCm39)	missense	probably damaging	0.99
R4611:Luzp2	UTSW	7	54,713,104 (GRCm39)	splice site	probably null
R4716:Luzp2	UTSW	7	54,485,710 (GRCm39)	missense	probably damaging	1.00
R4873:Luzp2	UTSW	7	54,816,996 (GRCm39)	missense	possibly damaging	0.69
R4875:Luzp2	UTSW	7	54,816,996 (GRCm39)	missense	possibly damaging	0.69
R5108:Luzp2	UTSW	7	54,915,038 (GRCm39)	missense	probably damaging	1.00
R6023:Luzp2	UTSW	7	54,707,815 (GRCm39)	missense	possibly damaging	0.78
R6034:Luzp2	UTSW	7	54,816,972 (GRCm39)	missense	probably damaging	1.00
R6034:Luzp2	UTSW	7	54,816,972 (GRCm39)	missense	probably damaging	1.00
R6412:Luzp2	UTSW	7	54,707,794 (GRCm39)	missense	probably damaging	1.00
R7116:Luzp2	UTSW	7	54,915,078 (GRCm39)	missense	possibly damaging	0.80
R7186:Luzp2	UTSW	7	54,485,577 (GRCm39)	start gained	probably benign
R7588:Luzp2	UTSW	7	54,724,838 (GRCm39)	critical splice donor site	probably null
R8036:Luzp2	UTSW	7	54,724,823 (GRCm39)	missense	probably damaging	1.00
R8078:Luzp2	UTSW	7	54,702,510 (GRCm39)	nonsense	probably null
R8729:Luzp2	UTSW	7	54,816,985 (GRCm39)	missense	probably damaging	1.00
R9287:Luzp2	UTSW	7	54,914,108 (GRCm39)	splice site	probably benign
R9652:Luzp2	UTSW	7	54,702,580 (GRCm39)	missense	probably damaging	1.00
R9653:Luzp2	UTSW	7	54,702,580 (GRCm39)	missense	probably damaging	1.00
RF014:Luzp2	UTSW	7	54,821,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTACTCTTCATCACCTTGATTG -3'
(R):5'- GCGGCTATGAGATAGTAACTCTTAG -3'

Sequencing Primer
(F):5'- CACCTTGATTGATTTCATTGTATCAG -3'
(R):5'- CAGACTTCTGGTAGATTCCTA -3'

Posted On

2019-06-26