Incidental Mutation 'R6511:Lrrn4'
ID |
519903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn4
|
Ensembl Gene |
ENSMUSG00000043110 |
Gene Name |
leucine rich repeat neuronal 4 |
Synonyms |
B430119L13Rik |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
132710225-132722811 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 132712246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 526
(S526R)
|
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 benign
Transcript: ENSMUST00000049787
AA Change: S526R
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000057005 Gene: ENSMUSG00000043110 AA Change: S526R
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 |
|
Meta Mutation Damage Score |
0.0880 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGACGAGCACTGATGTGTC -3'
(R):5'- TGCCACACATATCCTTGAGCC -3'
Sequencing Primer
(F):5'- CTGATGTGTCAGTCACCTCTG -3'
(R):5'- ATCCTTGAGCCTAATATTTCATCTGC -3'
|
Posted On |
2018-06-06 |