Incidental Mutation 'R2311:Nrl'
ID 245356
Institutional Source Beutler Lab
Gene Symbol Nrl
Ensembl Gene ENSMUSG00000040632
Gene Name neural retina leucine zipper gene
Synonyms
MMRRC Submission 040310-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R2311 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55756972-55762438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55759909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 6 (S6I)
Ref Sequence ENSEMBL: ENSMUSP00000153933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000111404] [ENSMUST00000178694] [ENSMUST00000228287] [ENSMUST00000228902]
AlphaFold P54846
Predicted Effect probably damaging
Transcript: ENSMUST00000062232
AA Change: S6I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632
AA Change: S6I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000111404
AA Change: S6I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632
AA Change: S6I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000178694
AA Change: S6I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632
AA Change: S6I

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000226858
Predicted Effect probably damaging
Transcript: ENSMUST00000228287
AA Change: S6I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228351
Predicted Effect probably damaging
Transcript: ENSMUST00000228902
AA Change: S6I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1408 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e G A 15: 77,602,236 (GRCm39) R278H probably benign Het
Arhgef17 A G 7: 100,578,111 (GRCm39) S946P probably benign Het
Capsl A T 15: 9,462,689 (GRCm39) R110* probably null Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dock8 T A 19: 25,160,368 (GRCm39) I1757N possibly damaging Het
Dthd1 T C 5: 62,996,580 (GRCm39) probably benign Het
Eif5a2 A G 3: 28,836,325 (GRCm39) E42G possibly damaging Het
Elovl3 A G 19: 46,121,639 (GRCm39) S61G probably benign Het
Elp4 T C 2: 105,672,677 (GRCm39) N136S probably benign Het
Elp6 A G 9: 110,149,886 (GRCm39) S223G probably benign Het
Eml1 T A 12: 108,503,675 (GRCm39) D743E probably damaging Het
Ezh2 T C 6: 47,535,194 (GRCm39) Q85R probably damaging Het
Fermt3 C A 19: 6,991,530 (GRCm39) C194F probably damaging Het
Flg A G 3: 93,200,260 (GRCm39) probably benign Het
Gfi1b C T 2: 28,500,186 (GRCm39) G282R probably damaging Het
Gpr176 A T 2: 118,109,927 (GRCm39) I444K probably benign Het
Gvin-ps3 T C 7: 105,682,797 (GRCm39) K153E probably damaging Het
Gys2 A T 6: 142,408,970 (GRCm39) M95K possibly damaging Het
Hgs C T 11: 120,370,474 (GRCm39) R167W probably damaging Het
Map3k20 T C 2: 72,198,784 (GRCm39) I130T probably damaging Het
Nckap5 A T 1: 126,456,489 (GRCm39) Y25N probably damaging Het
Npc1 C T 18: 12,335,240 (GRCm39) V629I probably benign Het
Or10am5 A T 7: 6,517,741 (GRCm39) M229K probably benign Het
Or4c29 T A 2: 88,739,813 (GRCm39) D308V probably benign Het
Or5d37 T C 2: 87,924,178 (GRCm39) N34S probably benign Het
Oxct2b T C 4: 123,011,211 (GRCm39) F377S probably damaging Het
Plb1 T C 5: 32,427,162 (GRCm39) S91P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Postn A T 3: 54,292,644 (GRCm39) Y737F probably damaging Het
Serpina1e T A 12: 103,917,388 (GRCm39) I94F possibly damaging Het
Serpine2 A G 1: 79,788,265 (GRCm39) probably benign Het
Stox2 T C 8: 47,645,013 (GRCm39) R816G probably damaging Het
Tep1 T C 14: 51,071,024 (GRCm39) N2092D possibly damaging Het
Tmem186 A G 16: 8,453,748 (GRCm39) V171A probably benign Het
Trim58 G A 11: 58,533,934 (GRCm39) V163M probably benign Het
Trim59 G T 3: 68,945,162 (GRCm39) C59* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vill A G 9: 118,894,965 (GRCm39) N61S probably benign Het
Zer1 C T 2: 29,991,834 (GRCm39) R662H probably damaging Het
Zfp644 A C 5: 106,782,822 (GRCm39) V1184G probably benign Het
Zfp974 A G 7: 27,609,866 (GRCm39) S620P possibly damaging Het
Other mutations in Nrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Nrl APN 14 55,759,567 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGCCAGCCAATATAGCTCCTC -3'
(R):5'- TGGATCTGTACTCTGGAATCCC -3'

Sequencing Primer
(F):5'- AATATAGCTCCTCCAGGCCTG -3'
(R):5'- CCAGATCACTAGTTCCAGGGAAATTG -3'
Posted On 2014-10-30