Incidental Mutation 'R6087:Lrrn3'
| ID |
484618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn3
|
| Ensembl Gene |
ENSMUSG00000036295 |
| Gene Name |
leucine rich repeat protein 3, neuronal |
| Synonyms |
NLRR-3 |
| MMRRC Submission |
044244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R6087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
41451668-41486431 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41453535 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 261
(N261S)
|
| 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: N261S
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: N261S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 87,971,762 (GRCm38) |
K126R |
possibly damaging |
Het |
| Adam7 |
A |
T |
14: 68,510,757 (GRCm38) |
C548S |
probably damaging |
Het |
| Adar |
C |
A |
3: 89,745,590 (GRCm38) |
H260N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,382,832 (GRCm38) |
E775G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,563,643 (GRCm38) |
Y499C |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 136,066,429 (GRCm38) |
L480P |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,615,791 (GRCm38) |
|
probably null |
Het |
| Cnga1 |
G |
T |
5: 72,610,812 (GRCm38) |
A177E |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,427,847 (GRCm38) |
D1221V |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,764,004 (GRCm38) |
Y36C |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,161,074 (GRCm38) |
N1254K |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,399,255 (GRCm38) |
S128P |
probably damaging |
Het |
| Fam13b |
C |
T |
18: 34,487,139 (GRCm38) |
V231I |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 56,569,318 (GRCm38) |
Y122N |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,880,433 (GRCm38) |
I378F |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,204,946 (GRCm38) |
Q861L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Ighv3-8 |
G |
T |
12: 114,322,380 (GRCm38) |
A114E |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 95,052,443 (GRCm38) |
|
probably null |
Het |
| Kank1 |
G |
A |
19: 25,409,724 (GRCm38) |
V254I |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,465,975 (GRCm38) |
I147K |
unknown |
Het |
| Lrfn2 |
A |
G |
17: 49,071,126 (GRCm38) |
S412G |
probably benign |
Het |
| Mical2 |
C |
T |
7: 112,318,485 (GRCm38) |
Q350* |
probably null |
Het |
| Nras |
T |
C |
3: 103,060,321 (GRCm38) |
F78L |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,050,813 (GRCm38) |
I65V |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,575,915 (GRCm38) |
D277G |
probably benign |
Het |
| Or4f17-ps1 |
A |
T |
2: 111,528,181 (GRCm38) |
E289V |
possibly damaging |
Het |
| Oscar |
G |
A |
7: 3,611,312 (GRCm38) |
P143S |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,270,006 (GRCm38) |
G615D |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,900,571 (GRCm38) |
S175A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,556,944 (GRCm38) |
K445E |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,380,879 (GRCm38) |
Y318H |
probably benign |
Het |
| Ret |
G |
T |
6: 118,176,291 (GRCm38) |
T472K |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 126,428,970 (GRCm38) |
D1343G |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
| Vmn1r171 |
T |
A |
7: 23,633,004 (GRCm38) |
M218K |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,457,576 (GRCm38) |
|
probably null |
Het |
| Zc3h13 |
T |
A |
14: 75,330,709 (GRCm38) |
D1147E |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,615,486 (GRCm38) |
L1703H |
probably damaging |
Het |
|
| Other mutations in Lrrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Lrrn3
|
APN |
12 |
41,452,192 (GRCm38) |
intron |
probably benign |
|
|
IGL02825:Lrrn3
|
APN |
12 |
41,452,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02927:Lrrn3
|
APN |
12 |
41,453,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02970:Lrrn3
|
APN |
12 |
41,452,360 (GRCm38) |
missense |
probably benign |
|
|
IGL02995:Lrrn3
|
APN |
12 |
41,452,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02999:Lrrn3
|
APN |
12 |
41,452,751 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03182:Lrrn3
|
APN |
12 |
41,454,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03280:Lrrn3
|
APN |
12 |
41,454,147 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4469001:Lrrn3
|
UTSW |
12 |
41,453,018 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0167:Lrrn3
|
UTSW |
12 |
41,454,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0414:Lrrn3
|
UTSW |
12 |
41,453,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0787:Lrrn3
|
UTSW |
12 |
41,454,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0894:Lrrn3
|
UTSW |
12 |
41,454,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1433:Lrrn3
|
UTSW |
12 |
41,452,584 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1610:Lrrn3
|
UTSW |
12 |
41,452,993 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1834:Lrrn3
|
UTSW |
12 |
41,453,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2068:Lrrn3
|
UTSW |
12 |
41,452,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Lrrn3
|
UTSW |
12 |
41,452,723 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2871:Lrrn3
|
UTSW |
12 |
41,452,723 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3771:Lrrn3
|
UTSW |
12 |
41,452,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4408:Lrrn3
|
UTSW |
12 |
41,454,042 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4410:Lrrn3
|
UTSW |
12 |
41,452,584 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4684:Lrrn3
|
UTSW |
12 |
41,454,244 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4770:Lrrn3
|
UTSW |
12 |
41,452,443 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4927:Lrrn3
|
UTSW |
12 |
41,453,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5037:Lrrn3
|
UTSW |
12 |
41,453,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5482:Lrrn3
|
UTSW |
12 |
41,452,388 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5482:Lrrn3
|
UTSW |
12 |
41,452,387 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5667:Lrrn3
|
UTSW |
12 |
41,452,298 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6022:Lrrn3
|
UTSW |
12 |
41,453,430 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6129:Lrrn3
|
UTSW |
12 |
41,453,788 (GRCm38) |
nonsense |
probably null |
|
|
R6309:Lrrn3
|
UTSW |
12 |
41,453,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7449:Lrrn3
|
UTSW |
12 |
41,453,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7555:Lrrn3
|
UTSW |
12 |
41,452,911 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7560:Lrrn3
|
UTSW |
12 |
41,452,713 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8059:Lrrn3
|
UTSW |
12 |
41,454,217 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8134:Lrrn3
|
UTSW |
12 |
41,453,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8798:Lrrn3
|
UTSW |
12 |
41,453,175 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9308:Lrrn3
|
UTSW |
12 |
41,453,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9318:Lrrn3
|
UTSW |
12 |
41,453,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATCTGGGGTTGTTAGTAGC -3'
(R):5'- TCCCAATCTCGAGATTCTGATGC -3'
Sequencing Primer
(F):5'- CTTCTATTTTTCTCAAATCTGGCAAG -3'
(R):5'- CATCAGGATCAAGGACATGAACTTTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation