Incidental Mutation 'R8328:Nrl'
| ID |
644217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrl
|
| Ensembl Gene |
ENSMUSG00000040632 |
| Gene Name |
neural retina leucine zipper gene |
| Synonyms |
|
| MMRRC Submission |
067727-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R8328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55756972-55762438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55758163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 188
(E188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062232]
[ENSMUST00000074225]
[ENSMUST00000111404]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000171643]
[ENSMUST00000178694]
[ENSMUST00000228287]
[ENSMUST00000228902]
|
| AlphaFold |
P54846 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062232
AA Change: E188G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632
AA Change: E188G
| 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 damaging
Transcript: ENSMUST00000111404
AA Change: E188G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632
AA Change: E188G
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000178694
AA Change: E188G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632
AA Change: E188G
| 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 damaging
Transcript: ENSMUST00000228287
AA Change: E188G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228902
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
| Ankrd6 |
C |
T |
4: 32,810,215 (GRCm39) |
E489K |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,605 (GRCm39) |
H67L |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
| Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
| Dpy19l1 |
T |
A |
9: 24,386,686 (GRCm39) |
K9* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,537,380 (GRCm39) |
L317P |
probably damaging |
Het |
| Prr5 |
G |
C |
15: 84,587,387 (GRCm39) |
*388S |
probably null |
Het |
| Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
| Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
| Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
| Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
| Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Nrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R8871:Nrl
|
UTSW |
14 |
55,758,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTACTACCTCTCCTGTATAGCG -3'
(R):5'- TGCCCGAGAGATTTTCGGAC -3'
Sequencing Primer
(F):5'- TGTATAGCGCCATCTACCCAG -3'
(R):5'- ATGTCTGTGCGCGAGTTGA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation