Incidental Mutation 'IGL01542:Lrrn4'
| ID |
90198 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrn4
|
| Ensembl Gene |
ENSMUSG00000043110 |
| Gene Name |
leucine rich repeat neuronal 4 |
| Synonyms |
B430119L13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132710225-132722811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132721392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 142
(T142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049787]
|
| AlphaFold |
P59383 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049787
AA Change: T142A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: T142A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRR
|
105 |
126 |
7.36e0 |
SMART |
|
LRR_TYP
|
128 |
151 |
3.44e-4 |
SMART |
|
LRR
|
153 |
175 |
1.19e1 |
SMART |
|
LRR
|
176 |
199 |
1.53e1 |
SMART |
|
LRR
|
205 |
228 |
2.03e1 |
SMART |
|
LRR
|
229 |
253 |
3.36e2 |
SMART |
|
LRRCT
|
311 |
363 |
6.92e-2 |
SMART |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
FN3
|
577 |
656 |
3.73e-10 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
| Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
| Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
| Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
| Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
| Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
| Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
| Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
| Other mutations in Lrrn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lrrn4
|
APN |
2 |
132,712,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00661:Lrrn4
|
APN |
2 |
132,712,588 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01584:Lrrn4
|
APN |
2 |
132,719,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01723:Lrrn4
|
APN |
2 |
132,711,981 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0270:Lrrn4
|
UTSW |
2 |
132,712,639 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0348:Lrrn4
|
UTSW |
2 |
132,712,363 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0400:Lrrn4
|
UTSW |
2 |
132,719,940 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0701:Lrrn4
|
UTSW |
2 |
132,712,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1465:Lrrn4
|
UTSW |
2 |
132,713,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Lrrn4
|
UTSW |
2 |
132,713,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Lrrn4
|
UTSW |
2 |
132,711,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Lrrn4
|
UTSW |
2 |
132,712,363 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3409:Lrrn4
|
UTSW |
2 |
132,721,781 (GRCm39) |
missense |
unknown |
|
|
R3743:Lrrn4
|
UTSW |
2 |
132,711,786 (GRCm39) |
splice site |
probably null |
|
|
R4678:Lrrn4
|
UTSW |
2 |
132,721,488 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5770:Lrrn4
|
UTSW |
2 |
132,714,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Lrrn4
|
UTSW |
2 |
132,712,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Lrrn4
|
UTSW |
2 |
132,712,246 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6880:Lrrn4
|
UTSW |
2 |
132,714,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7132:Lrrn4
|
UTSW |
2 |
132,721,613 (GRCm39) |
nonsense |
probably null |
|
|
R7273:Lrrn4
|
UTSW |
2 |
132,721,749 (GRCm39) |
missense |
unknown |
|
|
R7424:Lrrn4
|
UTSW |
2 |
132,711,663 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7710:Lrrn4
|
UTSW |
2 |
132,721,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7980:Lrrn4
|
UTSW |
2 |
132,720,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Lrrn4
|
UTSW |
2 |
132,719,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8229:Lrrn4
|
UTSW |
2 |
132,711,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Lrrn4
|
UTSW |
2 |
132,721,364 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8956:Lrrn4
|
UTSW |
2 |
132,714,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Lrrn4
|
UTSW |
2 |
132,712,552 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9342:Lrrn4
|
UTSW |
2 |
132,712,290 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation