Incidental Mutation 'IGL02825:Lrrn3'
ID |
361179 |
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 # |
IGL02825
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41502592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 575
(V575D)
|
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: V575D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: V575D
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 |
Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
Gm28042 |
T |
A |
2: 119,862,125 (GRCm39) |
M232K |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
Mapk11 |
A |
G |
15: 89,030,585 (GRCm39) |
Y103H |
probably damaging |
Het |
Mrpl19 |
G |
T |
6: 81,942,796 (GRCm39) |
T38K |
probably benign |
Het |
Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
Rph3a |
T |
C |
5: 121,083,509 (GRCm39) |
K587R |
possibly damaging |
Het |
Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
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 |
|
IGL02927:Lrrn3
|
APN |
12 |
41,503,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02970:Lrrn3
|
APN |
12 |
41,502,359 (GRCm39) |
missense |
probably benign |
|
IGL02995:Lrrn3
|
APN |
12 |
41,502,216 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |