Incidental Mutation 'IGL02995:Lrrn3'
ID |
407098 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL02995
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41502216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 700
(I700M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
AlphaFold |
Q8CBC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043884
AA Change: I700M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: I700M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
LRRNT
|
28 |
73 |
9.17e-4 |
SMART |
LRR
|
115 |
138 |
2.63e0 |
SMART |
LRR_TYP
|
139 |
162 |
1.5e-4 |
SMART |
LRR
|
163 |
186 |
7.55e-1 |
SMART |
LRR
|
187 |
210 |
1.76e1 |
SMART |
LRR
|
211 |
234 |
1.62e1 |
SMART |
LRR
|
235 |
258 |
5.11e0 |
SMART |
LRR
|
260 |
282 |
3.18e1 |
SMART |
LRR
|
333 |
356 |
4.44e0 |
SMART |
LRRCT
|
368 |
420 |
3.7e-5 |
SMART |
IGc2
|
435 |
503 |
5.04e-9 |
SMART |
FN3
|
521 |
602 |
3.49e0 |
SMART |
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132121
|
SMART Domains |
Protein: ENSMUSP00000118779 Gene: ENSMUSG00000056899
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S24
|
38 |
115 |
7.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134965
|
SMART Domains |
Protein: ENSMUSP00000116441 Gene: ENSMUSG00000056899
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S24
|
38 |
114 |
6.4e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibited increased mean percent body fat and male homozygous mutant mice exhibited enhanced glucose tolerance when compared with controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
Het |
|
Other mutations in Lrrn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Lrrn3
|
APN |
12 |
41,502,191 (GRCm39) |
intron |
probably benign |
|
IGL02825:Lrrn3
|
APN |
12 |
41,502,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02927:Lrrn3
|
APN |
12 |
41,503,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02970:Lrrn3
|
APN |
12 |
41,502,359 (GRCm39) |
missense |
probably benign |
|
IGL02999:Lrrn3
|
APN |
12 |
41,502,750 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03182:Lrrn3
|
APN |
12 |
41,504,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03280:Lrrn3
|
APN |
12 |
41,504,146 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4469001:Lrrn3
|
UTSW |
12 |
41,503,017 (GRCm39) |
missense |
probably benign |
0.03 |
R0167:Lrrn3
|
UTSW |
12 |
41,504,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Lrrn3
|
UTSW |
12 |
41,503,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Lrrn3
|
UTSW |
12 |
41,504,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Lrrn3
|
UTSW |
12 |
41,504,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1610:Lrrn3
|
UTSW |
12 |
41,502,992 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1834:Lrrn3
|
UTSW |
12 |
41,503,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Lrrn3
|
UTSW |
12 |
41,502,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
R3771:Lrrn3
|
UTSW |
12 |
41,502,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R4408:Lrrn3
|
UTSW |
12 |
41,504,041 (GRCm39) |
missense |
probably benign |
0.04 |
R4410:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4684:Lrrn3
|
UTSW |
12 |
41,504,243 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4770:Lrrn3
|
UTSW |
12 |
41,502,442 (GRCm39) |
missense |
probably benign |
0.08 |
R4927:Lrrn3
|
UTSW |
12 |
41,503,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Lrrn3
|
UTSW |
12 |
41,503,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R5482:Lrrn3
|
UTSW |
12 |
41,502,387 (GRCm39) |
missense |
probably damaging |
0.96 |
R5482:Lrrn3
|
UTSW |
12 |
41,502,386 (GRCm39) |
missense |
probably benign |
0.01 |
R5667:Lrrn3
|
UTSW |
12 |
41,502,297 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6022:Lrrn3
|
UTSW |
12 |
41,503,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R6087:Lrrn3
|
UTSW |
12 |
41,503,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6129:Lrrn3
|
UTSW |
12 |
41,503,787 (GRCm39) |
nonsense |
probably null |
|
R6309:Lrrn3
|
UTSW |
12 |
41,503,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Lrrn3
|
UTSW |
12 |
41,503,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Lrrn3
|
UTSW |
12 |
41,502,910 (GRCm39) |
missense |
probably benign |
0.01 |
R7560:Lrrn3
|
UTSW |
12 |
41,502,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8059:Lrrn3
|
UTSW |
12 |
41,504,216 (GRCm39) |
missense |
probably benign |
0.22 |
R8134:Lrrn3
|
UTSW |
12 |
41,503,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8798:Lrrn3
|
UTSW |
12 |
41,503,174 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9308:Lrrn3
|
UTSW |
12 |
41,503,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Lrrn3
|
UTSW |
12 |
41,503,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |