Incidental Mutation 'R5037:Lrrn3'
ID |
389588 |
Institutional Source |
Beutler Lab
|
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 # |
R5037 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41503594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 241
(I241N)
|
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: I241N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: I241N
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
Eif4g2 |
A |
T |
7: 110,676,239 (GRCm39) |
N347K |
probably benign |
Het |
Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
Eri2 |
G |
A |
7: 119,384,897 (GRCm39) |
L535F |
probably benign |
Het |
Garin5b |
T |
G |
7: 4,761,575 (GRCm39) |
K379T |
possibly damaging |
Het |
Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
Kif13b |
T |
G |
14: 64,996,038 (GRCm39) |
Y941* |
probably null |
Het |
Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
Mthfd1 |
T |
G |
12: 76,340,914 (GRCm39) |
F258V |
probably damaging |
Het |
Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGCAAGTTATCCACAGC -3'
(R):5'- GCAGATGATCAACAGTCAATGG -3'
Sequencing Primer
(F):5'- CTGTCAATGGAGACAAGTTCAGGC -3'
(R):5'- CAACAGTCAATGGTTTGATGCTC -3'
|
Posted On |
2016-06-06 |