Incidental Mutation 'IGL01407:Lrrn2'
ID |
79852 |
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 # |
IGL01407
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132808093-132867743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132864965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 10
(L10P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027706]
|
AlphaFold |
Q6PHP6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027706
AA Change: L10P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027706 Gene: ENSMUSG00000026443 AA Change: L10P
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly damaging |
Het |
Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
probably benign |
Het |
|
Other mutations in Lrrn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01387:Lrrn2
|
APN |
1 |
132,866,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |