Incidental Mutation 'IGL00333:Lrrn4'
| ID |
7016 |
| 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: 0.068)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132710225-132722811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132712737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 362
(C362Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028835]
[ENSMUST00000049787]
[ENSMUST00000124834]
[ENSMUST00000124836]
[ENSMUST00000154160]
|
| AlphaFold |
P59383 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028835
|
| SMART Domains |
Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
107 |
288 |
1.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049787
AA Change: C362Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: C362Y
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124834
|
| SMART Domains |
Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124836
|
| SMART Domains |
Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
1 |
175 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154160
|
| SMART Domains |
Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
7 |
187 |
1.8e-15 |
PFAM |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Lrrn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Lrrn4
|
APN |
2 |
132,712,588 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01542:Lrrn4
|
APN |
2 |
132,721,392 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation