Incidental Mutation 'PIT4469001:Lrrn3'
| ID |
555835 |
| 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: 0.136)
|
| Stock # |
PIT4469001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41503017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 433
(D433E)
|
| 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: D433E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: D433E
| 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: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
| Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
| Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
| Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
| Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
| H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
| Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
| Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
| Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
| Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
possibly 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 |
|
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 |
|
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'- TAGTTGCTATGCAGGTGTACAAC -3'
(R):5'- TAGCAATCCCATCCGTTGCG -3'
Sequencing Primer
(F):5'- CTCTAGTGTGCCTTCAGAAT -3'
(R):5'- TGCGACTGTGTAATCCGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation