Incidental Mutation 'R6646:Lrrn2'
| ID |
527963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn2
|
| Ensembl Gene |
ENSMUSG00000026443 |
| Gene Name |
leucine rich repeat protein 2, neuronal |
| Synonyms |
NLRR-2, 5730406J09Rik |
| MMRRC Submission |
044767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132808093-132867743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132866794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 620
(P620S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027706]
|
| AlphaFold |
Q6PHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027706
AA Change: P620S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: P620S
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
| Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
| Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
| Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
| Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
| Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
| Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
| Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
| Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
| Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
| Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
| Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
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 |
|
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 |
|
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'- ACCAACCTCACCTGGTCTAG -3'
(R):5'- ACAAGGGGTGCAGACACTAC -3'
Sequencing Primer
(F):5'- ACCTGGTCTAGCGCCTC -3'
(R):5'- GTGCAGACACTACCCGGACAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation