Incidental Mutation 'R4410:Lrrn3'
ID |
327873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
041692-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4410 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41502583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 578
(Y578F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
AlphaFold |
Q8CBC6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043884
AA Change: Y578F
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: Y578F
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 |
|
Meta Mutation Damage Score |
0.1290 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (46/48) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
T |
15: 76,609,712 (GRCm39) |
|
probably benign |
Het |
Arrb1 |
G |
T |
7: 99,247,503 (GRCm39) |
|
probably benign |
Het |
Cadps |
A |
G |
14: 12,822,323 (GRCm38) |
M139T |
probably damaging |
Het |
Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
Cdca4 |
A |
T |
12: 112,785,499 (GRCm39) |
H76Q |
probably benign |
Het |
Ddias |
A |
G |
7: 92,507,287 (GRCm39) |
L876P |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
Dnttip1 |
A |
G |
2: 164,609,739 (GRCm39) |
|
probably benign |
Het |
Eme2 |
A |
G |
17: 25,112,598 (GRCm39) |
S160P |
probably benign |
Het |
Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,881 (GRCm39) |
E129G |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,636,664 (GRCm39) |
N793K |
possibly damaging |
Het |
Iqcg |
T |
G |
16: 32,851,186 (GRCm39) |
K262Q |
possibly damaging |
Het |
Lhfpl3 |
A |
G |
5: 22,980,690 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
C |
6: 24,604,629 (GRCm39) |
S535R |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,555,094 (GRCm39) |
S342C |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,467,885 (GRCm39) |
R1050W |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,217,576 (GRCm39) |
T2301S |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,372,702 (GRCm39) |
E4048G |
probably damaging |
Het |
Myh3 |
G |
C |
11: 66,975,858 (GRCm39) |
E297Q |
possibly damaging |
Het |
Nkain3 |
A |
G |
4: 20,778,284 (GRCm39) |
V11A |
probably benign |
Het |
Or4c102 |
G |
A |
2: 88,422,765 (GRCm39) |
V206I |
probably benign |
Het |
P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
Pals2 |
C |
T |
6: 50,175,248 (GRCm39) |
Q520* |
probably null |
Het |
Phgdh |
A |
G |
3: 98,221,591 (GRCm39) |
M447T |
probably benign |
Het |
Pmfbp1 |
G |
A |
8: 110,258,695 (GRCm39) |
A667T |
probably benign |
Het |
Pramel41 |
A |
T |
5: 94,593,720 (GRCm39) |
Q15L |
probably benign |
Het |
Psmd2 |
T |
G |
16: 20,473,776 (GRCm39) |
C230G |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Slc37a3 |
T |
A |
6: 39,315,747 (GRCm39) |
Y443F |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,915,288 (GRCm39) |
G1314* |
probably null |
Het |
Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
St7 |
C |
T |
6: 17,854,932 (GRCm39) |
R267* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,141,167 (GRCm39) |
S99L |
probably damaging |
Het |
Tacc2 |
T |
G |
7: 130,343,941 (GRCm39) |
S2533R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Uaca |
T |
G |
9: 60,777,173 (GRCm39) |
V518G |
probably damaging |
Het |
Usp43 |
T |
C |
11: 67,746,716 (GRCm39) |
E992G |
probably benign |
Het |
Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,047,543 (GRCm39) |
T844M |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,911,320 (GRCm39) |
M904K |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
Zmym1 |
A |
T |
4: 126,941,897 (GRCm39) |
C830* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGGCCTCCAACACAGG -3'
(R):5'- ACCTAGTCGGTGCTGATTTG -3'
Sequencing Primer
(F):5'- CAGGCCACAAATACTGTATGATTC -3'
(R):5'- CTGTTCCTCAGGATAATAATGGGTC -3'
|
Posted On |
2015-07-07 |