Incidental Mutation 'R4006:Lrrn2'
ID |
311454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn2
|
Ensembl Gene |
ENSMUSG00000026443 |
Gene Name |
leucine rich repeat protein 2, neuronal |
Synonyms |
NLRR-2, 5730406J09Rik |
MMRRC Submission |
040845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4006 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132808093-132867743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132865478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 181
(D181V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027706]
|
AlphaFold |
Q6PHP6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027706
AA Change: D181V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027706 Gene: ENSMUSG00000026443 AA Change: D181V
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly damaging |
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 |
IGL01407:Lrrn2
|
APN |
1 |
132,864,965 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGACTGCGATTTCCAAGCC -3'
(R):5'- AGAGACTCTCCAGGCTTTGC -3'
Sequencing Primer
(F):5'- GCTGCTGAGCCTACATCTAGAAG -3'
(R):5'- GCTTTGCAGTCCCTCCAGAG -3'
|
Posted On |
2015-04-29 |