Incidental Mutation 'R1185:Lrrn2'
ID |
200839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn2
|
Ensembl Gene |
ENSMUSG00000026443 |
Gene Name |
leucine rich repeat protein 2, neuronal |
Synonyms |
NLRR-2, 5730406J09Rik |
MMRRC Submission |
039257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132808093-132867743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132866959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 675
(S675G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027706]
|
AlphaFold |
Q6PHP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027706
AA Change: S675G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027706 Gene: ENSMUSG00000026443 AA Change: S675G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194934
|
Meta Mutation Damage Score |
0.0606 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
96% (45/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
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 |
R4006:Lrrn2
|
UTSW |
1 |
132,865,478 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGCAAGTGGCCTTTGCTGATGC -3'
(R):5'- CGTCCCGTTTAGTGTAGAGTTGTCC -3'
Sequencing Primer
(F):5'- TGTTTGGGCCAGGACTAAAG -3'
(R):5'- CTAGTTATTTCTCTACTGCTGAGACC -3'
|
Posted On |
2014-05-23 |