Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Nrl'

184642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrl

Ensembl Gene

ENSMUSG00000040632

Gene Name

neural retina leucine zipper gene

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

55756972-55762438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55759567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

Ref Sequence

ENSEMBL: ENSMUSP00000153933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000178694] [ENSMUST00000228287] [ENSMUST00000171643] [ENSMUST00000228902]

AlphaFold

P54846

Predicted Effect

probably benign
Transcript: ENSMUST00000062232
AA Change: E120G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632
AA Change: E120G

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	101	7.3e-18	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074225

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111404
AA Change: E120G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632
AA Change: E120G

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	102	2e-15	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163767

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165262

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	505	2.34e-14	SMART
low complexity region	542	556	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170155

Predicted Effect

probably benign
Transcript: ENSMUST00000178694
AA Change: E120G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632
AA Change: E120G

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	102	2e-15	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228287
AA Change: E120G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000171643

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226858

Predicted Effect

probably benign
Transcript: ENSMUST00000228902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228351

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the basic leucine zipper domain family of transcription factors. The encoded protein is preferentially expressed in the retina and is necessary for rod photoreceptor development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a retinal defect causing loss of rod function, exaggerated cone function, short, sparse outer segments, and abnormal disks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Nrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1940:Nrl	UTSW	14	55,759,892 (GRCm39)	missense	probably damaging	1.00
R2144:Nrl	UTSW	14	55,758,307 (GRCm39)	missense	possibly damaging	0.50
R2311:Nrl	UTSW	14	55,759,909 (GRCm39)	missense	probably damaging	1.00
R4424:Nrl	UTSW	14	55,759,675 (GRCm39)	missense	probably benign	0.04
R5706:Nrl	UTSW	14	55,759,889 (GRCm39)	missense	probably damaging	1.00
R7859:Nrl	UTSW	14	55,759,582 (GRCm39)	missense	probably benign	0.01
R8328:Nrl	UTSW	14	55,758,163 (GRCm39)	missense	probably damaging	0.99
R8871:Nrl	UTSW	14	55,758,184 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07