Incidental Mutation 'R4408:Lrrn3'
ID |
327767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
041690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4408 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41504041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 92
(V92A)
|
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: V92A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: V92A
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 |
0.0600 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (35/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
Fndc5 |
A |
G |
4: 129,036,322 (GRCm39) |
|
probably null |
Het |
Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
Irf5 |
A |
G |
6: 29,534,000 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
Osr2 |
T |
C |
15: 35,300,617 (GRCm39) |
Y58H |
possibly damaging |
Het |
Pop5 |
C |
T |
5: 115,378,836 (GRCm39) |
|
probably benign |
Het |
Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sgsm2 |
C |
A |
11: 74,742,592 (GRCm39) |
R957L |
probably damaging |
Het |
Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGGAGAAGATTATGTAGGCC -3'
(R):5'- TGAGATCAGGCCTTGGTTTAC -3'
Sequencing Primer
(F):5'- CCAATGAAGGCTCCGGGAG -3'
(R):5'- GGTTTACCCCGAGATCCATCTATATG -3'
|
Posted On |
2015-07-07 |