Incidental Mutation 'R5179:Lrg1'
ID |
399433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrg1
|
Ensembl Gene |
ENSMUSG00000037095 |
Gene Name |
leucine-rich alpha-2-glycoprotein 1 |
Synonyms |
Lrhg, 1300008B03Rik, 2310031E04Rik |
MMRRC Submission |
042759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5179 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56426678-56428946 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56427795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 59
(L59P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001256]
[ENSMUST00000019808]
[ENSMUST00000041357]
[ENSMUST00000113072]
[ENSMUST00000167545]
|
AlphaFold |
Q91XL1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001256
|
SMART Domains |
Protein: ENSMUSP00000001256 Gene: ENSMUSG00000001227
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
Sema
|
66 |
496 |
2.48e-177 |
SMART |
PSI
|
527 |
581 |
4.09e-1 |
SMART |
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019808
|
SMART Domains |
Protein: ENSMUSP00000019808 Gene: ENSMUSG00000011305
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
31 |
383 |
1.2e-119 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041357
AA Change: L59P
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038048 Gene: ENSMUSG00000037095 AA Change: L59P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
LRR
|
84 |
107 |
1.86e0 |
SMART |
LRR_TYP
|
108 |
131 |
3.63e-3 |
SMART |
LRR
|
133 |
155 |
5.89e1 |
SMART |
LRR_TYP
|
156 |
179 |
1.45e-2 |
SMART |
LRR_TYP
|
180 |
203 |
8.47e-4 |
SMART |
LRR
|
205 |
227 |
2.08e1 |
SMART |
LRR
|
229 |
251 |
1.91e1 |
SMART |
LRR
|
252 |
275 |
5.34e-1 |
SMART |
LRRCT
|
292 |
342 |
9.69e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113072
|
SMART Domains |
Protein: ENSMUSP00000108695 Gene: ENSMUSG00000011305
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
27 |
384 |
2.3e-128 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167545
|
SMART Domains |
Protein: ENSMUSP00000130985 Gene: ENSMUSG00000001227
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
Sema
|
66 |
496 |
2.48e-177 |
SMART |
PSI
|
527 |
581 |
4.09e-1 |
SMART |
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.7661 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
Het |
|
Other mutations in Lrg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01465:Lrg1
|
APN |
17 |
56,427,705 (GRCm39) |
missense |
probably benign |
0.45 |
R5229:Lrg1
|
UTSW |
17 |
56,427,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R7133:Lrg1
|
UTSW |
17 |
56,427,592 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7806:Lrg1
|
UTSW |
17 |
56,426,967 (GRCm39) |
missense |
probably benign |
0.01 |
X0019:Lrg1
|
UTSW |
17 |
56,427,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCATTGCGGGTCAGATC -3'
(R):5'- AAGGACTCAGTGGGTACAGTTTAGG -3'
Sequencing Primer
(F):5'- ATTGCGGGTCAGATCCAGGG -3'
(R):5'- GGGAGATATTTTTCACCATGGTTCAC -3'
|
Posted On |
2016-07-06 |