Incidental Mutation 'IGL01723:Lrrn4'
| ID |
105174 |
| 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 # |
IGL01723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132710225-132722811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132711981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 614
(E614G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049787
AA Change: E614G
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: E614G
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
| Abcc10 |
A |
T |
17: 46,624,671 (GRCm39) |
C728S |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
| Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
| Epx |
C |
T |
11: 87,760,228 (GRCm39) |
R462H |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
| Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
| Hcn1 |
A |
C |
13: 118,112,591 (GRCm39) |
S852R |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
| Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,309,898 (GRCm39) |
D387G |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,915 (GRCm39) |
H326L |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
possibly 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 |
|
IGL01542:Lrrn4
|
APN |
2 |
132,721,392 (GRCm39) |
missense |
probably benign |
|
|
IGL01584:Lrrn4
|
APN |
2 |
132,719,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation