Incidental Mutation 'R5482:Lrrn3'
ID |
434400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
043043-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R5482 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41502386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 644
(L644F)
|
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: L644F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: L644F
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 |
0.0803 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.6%
|
Validation Efficiency |
99% (68/69) |
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 |
9230109A22Rik |
T |
C |
15: 25,139,036 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
T |
C |
7: 119,968,370 (GRCm39) |
L801P |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,984,613 (GRCm39) |
D212G |
probably benign |
Het |
Acsl6 |
G |
A |
11: 54,217,964 (GRCm39) |
D166N |
probably damaging |
Het |
Acy1 |
T |
C |
9: 106,311,838 (GRCm39) |
|
probably benign |
Het |
Adgrl3 |
A |
G |
5: 81,942,360 (GRCm39) |
N1368S |
probably damaging |
Het |
Akap5 |
T |
C |
12: 76,375,600 (GRCm39) |
I344T |
probably benign |
Het |
Aplp1 |
A |
G |
7: 30,139,600 (GRCm39) |
F399S |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,107,727 (GRCm39) |
S1302P |
possibly damaging |
Het |
Bik |
T |
G |
15: 83,428,335 (GRCm39) |
V121G |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,948,777 (GRCm39) |
M3069L |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,969,685 (GRCm39) |
T4237A |
probably damaging |
Het |
Btn2a2 |
T |
C |
13: 23,670,557 (GRCm39) |
N59D |
probably benign |
Het |
Cabyr |
A |
G |
18: 12,884,496 (GRCm39) |
S328G |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,426,838 (GRCm39) |
G1067R |
probably benign |
Het |
Cryl1 |
A |
T |
14: 57,550,469 (GRCm39) |
F132I |
probably damaging |
Het |
Dipk1a |
C |
G |
5: 108,057,529 (GRCm39) |
C343S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,019,521 (GRCm39) |
E3865K |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,855,937 (GRCm39) |
R741* |
probably null |
Het |
Fsip2 |
C |
T |
2: 82,815,654 (GRCm39) |
L3796F |
possibly damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm5535 |
C |
A |
2: 144,016,492 (GRCm39) |
|
noncoding transcript |
Het |
Gmcl1 |
A |
T |
6: 86,695,055 (GRCm39) |
M202K |
probably damaging |
Het |
Hecw2 |
T |
A |
1: 53,965,360 (GRCm39) |
M489L |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,980,418 (GRCm39) |
I254T |
probably benign |
Het |
Nr2f6 |
A |
T |
8: 71,827,182 (GRCm39) |
I373N |
probably damaging |
Het |
Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,897,269 (GRCm39) |
T135A |
probably damaging |
Het |
Or6c3 |
T |
C |
10: 129,308,947 (GRCm39) |
Y129H |
probably benign |
Het |
Otogl |
T |
A |
10: 107,657,802 (GRCm39) |
I1043F |
probably damaging |
Het |
Padi3 |
G |
A |
4: 140,523,154 (GRCm39) |
T302I |
probably damaging |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,585 (GRCm39) |
N127D |
probably damaging |
Het |
Pign |
A |
G |
1: 105,474,435 (GRCm39) |
F876L |
probably benign |
Het |
Pip5k1c |
A |
G |
10: 81,128,897 (GRCm39) |
E2G |
probably damaging |
Het |
Ppp1r18 |
G |
A |
17: 36,184,771 (GRCm39) |
E141K |
probably damaging |
Het |
Ralbp1 |
A |
C |
17: 66,168,563 (GRCm39) |
Y247* |
probably null |
Het |
Ripply2 |
A |
G |
9: 86,897,620 (GRCm39) |
E8G |
possibly damaging |
Het |
Rufy3 |
TAAGCA |
TA |
5: 88,785,191 (GRCm39) |
|
probably null |
Het |
Skint2 |
T |
G |
4: 112,483,076 (GRCm39) |
C160W |
probably damaging |
Het |
Sun2 |
C |
T |
15: 79,621,712 (GRCm39) |
R172Q |
probably benign |
Het |
Syna |
A |
G |
5: 134,588,028 (GRCm39) |
L307P |
possibly damaging |
Het |
Tlcd3b |
A |
G |
7: 126,426,660 (GRCm39) |
T78A |
possibly damaging |
Het |
Trappc12 |
T |
C |
12: 28,741,324 (GRCm39) |
K795R |
probably damaging |
Het |
Trmt9b |
A |
T |
8: 36,979,203 (GRCm39) |
M269L |
probably benign |
Het |
Ttll11 |
A |
G |
2: 35,642,418 (GRCm39) |
S638P |
probably damaging |
Het |
Usp2 |
G |
A |
9: 44,000,480 (GRCm39) |
|
probably null |
Het |
Vmn2r26 |
A |
T |
6: 124,038,285 (GRCm39) |
E620V |
possibly damaging |
Het |
Wdr36 |
A |
T |
18: 32,974,957 (GRCm39) |
H103L |
probably benign |
Het |
Wnt5b |
T |
C |
6: 119,423,392 (GRCm39) |
T78A |
probably benign |
Het |
Zc2hc1b |
C |
T |
10: 13,029,270 (GRCm39) |
R146Q |
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 |
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 |
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'- TTTGTCGGCACTCCTATAGC -3'
(R):5'- GCCCAAAGTGCTCGAATACC -3'
Sequencing Primer
(F):5'- GGCACTCCTATAGCCGTTG -3'
(R):5'- GCTCGAATACCATTTGATGTCAAGG -3'
|
Posted On |
2016-10-06 |