Incidental Mutation 'IGL02970:Lrrn3'
ID |
365788 |
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 # |
IGL02970
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 41502359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 653
(S653R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
AlphaFold |
Q8CBC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043884
AA Change: S653R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: S653R
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
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 |
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 |