Incidental Mutation 'IGL01387:Lrrn2'
ID |
79072 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrn2
|
Ensembl Gene |
ENSMUSG00000026443 |
Gene Name |
leucine rich repeat protein 2, neuronal |
Synonyms |
NLRR-2, 5730406J09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01387
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132808093-132867743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132866096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 387
(V387A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027706]
|
AlphaFold |
Q6PHP6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027706
AA Change: V387A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027706 Gene: ENSMUSG00000026443 AA Change: V387A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LRRNT
|
28 |
73 |
2.22e-2 |
SMART |
LRR
|
92 |
115 |
3.86e0 |
SMART |
LRR
|
116 |
139 |
1.08e-1 |
SMART |
LRR_TYP
|
140 |
163 |
3.21e-4 |
SMART |
LRR
|
164 |
187 |
1.33e-1 |
SMART |
LRR
|
188 |
211 |
5.89e1 |
SMART |
LRR
|
212 |
235 |
1.66e1 |
SMART |
LRR
|
236 |
259 |
4.98e-1 |
SMART |
LRR
|
260 |
283 |
5.26e0 |
SMART |
LRR
|
309 |
333 |
5.56e0 |
SMART |
LRR
|
334 |
357 |
2.17e-1 |
SMART |
LRRCT
|
369 |
421 |
3.13e-3 |
SMART |
IGc2
|
436 |
504 |
9.99e-13 |
SMART |
FN3
|
525 |
607 |
3.49e0 |
SMART |
transmembrane domain
|
629 |
651 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159088
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
Het |
|
Other mutations in Lrrn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Lrrn2
|
APN |
1 |
132,864,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01636:Lrrn2
|
APN |
1 |
132,864,959 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02134:Lrrn2
|
APN |
1 |
132,865,555 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02142:Lrrn2
|
APN |
1 |
132,866,983 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03240:Lrrn2
|
APN |
1 |
132,866,065 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0226:Lrrn2
|
UTSW |
1 |
132,865,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Lrrn2
|
UTSW |
1 |
132,865,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Lrrn2
|
UTSW |
1 |
132,866,959 (GRCm39) |
missense |
probably benign |
0.00 |
R1185:Lrrn2
|
UTSW |
1 |
132,866,959 (GRCm39) |
missense |
probably benign |
0.00 |
R1185:Lrrn2
|
UTSW |
1 |
132,866,959 (GRCm39) |
missense |
probably benign |
0.00 |
R1969:Lrrn2
|
UTSW |
1 |
132,866,972 (GRCm39) |
missense |
probably benign |
0.00 |
R2087:Lrrn2
|
UTSW |
1 |
132,865,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Lrrn2
|
UTSW |
1 |
132,866,230 (GRCm39) |
missense |
probably benign |
0.45 |
R4006:Lrrn2
|
UTSW |
1 |
132,865,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R4022:Lrrn2
|
UTSW |
1 |
132,866,852 (GRCm39) |
missense |
probably benign |
|
R4091:Lrrn2
|
UTSW |
1 |
132,865,390 (GRCm39) |
nonsense |
probably null |
|
R4092:Lrrn2
|
UTSW |
1 |
132,865,390 (GRCm39) |
nonsense |
probably null |
|
R4719:Lrrn2
|
UTSW |
1 |
132,866,915 (GRCm39) |
missense |
probably benign |
|
R5285:Lrrn2
|
UTSW |
1 |
132,866,983 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5681:Lrrn2
|
UTSW |
1 |
132,864,899 (GRCm39) |
start gained |
probably benign |
|
R5791:Lrrn2
|
UTSW |
1 |
132,865,505 (GRCm39) |
missense |
probably benign |
0.00 |
R5916:Lrrn2
|
UTSW |
1 |
132,865,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Lrrn2
|
UTSW |
1 |
132,866,794 (GRCm39) |
missense |
probably benign |
|
R7021:Lrrn2
|
UTSW |
1 |
132,866,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Lrrn2
|
UTSW |
1 |
132,866,332 (GRCm39) |
missense |
probably benign |
0.04 |
R7811:Lrrn2
|
UTSW |
1 |
132,866,939 (GRCm39) |
missense |
probably benign |
|
R7869:Lrrn2
|
UTSW |
1 |
132,867,116 (GRCm39) |
missense |
unknown |
|
R8004:Lrrn2
|
UTSW |
1 |
132,865,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Lrrn2
|
UTSW |
1 |
132,865,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R8815:Lrrn2
|
UTSW |
1 |
132,866,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8948:Lrrn2
|
UTSW |
1 |
132,866,104 (GRCm39) |
missense |
probably benign |
0.39 |
R9244:Lrrn2
|
UTSW |
1 |
132,865,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R9244:Lrrn2
|
UTSW |
1 |
132,865,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Lrrn2
|
UTSW |
1 |
132,865,241 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrn2
|
UTSW |
1 |
132,866,716 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Lrrn2
|
UTSW |
1 |
132,865,636 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-11-05 |