Incidental Mutation 'IGL03141:Lrrc3b'
ID |
410698 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc3b
|
Ensembl Gene |
ENSMUSG00000045201 |
Gene Name |
leucine rich repeat containing 3B |
Synonyms |
LRP15 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03141
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
7030776-7112248 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 15358390 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 72
(D72A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055211]
[ENSMUST00000163937]
[ENSMUST00000223700]
|
AlphaFold |
Q8VCH9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055211
AA Change: D72A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059463 Gene: ENSMUSG00000045201 AA Change: D72A
Domain | Start | End | E-Value | Type |
LRRNT
|
33 |
68 |
1.85e-8 |
SMART |
LRR
|
67 |
86 |
3e1 |
SMART |
LRR_TYP
|
87 |
110 |
8.94e-3 |
SMART |
LRR
|
115 |
135 |
3.86e0 |
SMART |
Blast:LRRCT
|
145 |
196 |
2e-8 |
BLAST |
transmembrane domain
|
203 |
225 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163937
AA Change: D72A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128624 Gene: ENSMUSG00000045201 AA Change: D72A
Domain | Start | End | E-Value | Type |
LRRNT
|
33 |
68 |
1.85e-8 |
SMART |
LRR
|
67 |
86 |
3e1 |
SMART |
LRR_TYP
|
87 |
110 |
8.94e-3 |
SMART |
LRR
|
115 |
135 |
3.86e0 |
SMART |
Blast:LRRCT
|
145 |
196 |
2e-8 |
BLAST |
transmembrane domain
|
203 |
225 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223700
AA Change: D72A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal olfactory epithelium and bulb. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
T |
C |
15: 89,207,531 (GRCm39) |
I14T |
probably benign |
Het |
AY761185 |
G |
A |
8: 21,434,576 (GRCm39) |
R51C |
possibly damaging |
Het |
Cenpt |
T |
A |
8: 106,578,573 (GRCm39) |
T15S |
probably damaging |
Het |
Cotl1 |
T |
C |
8: 120,537,022 (GRCm39) |
K131E |
possibly damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,770,621 (GRCm39) |
D1258V |
possibly damaging |
Het |
Decr1 |
A |
T |
4: 15,932,902 (GRCm39) |
I88K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,986,696 (GRCm39) |
S5408P |
probably damaging |
Het |
Gsto2 |
T |
C |
19: 47,863,312 (GRCm39) |
Y63H |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,307,370 (GRCm39) |
D2896E |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,199,063 (GRCm39) |
E164G |
probably damaging |
Het |
Or6f1 |
T |
A |
7: 85,970,909 (GRCm39) |
I84F |
probably damaging |
Het |
Parp14 |
C |
A |
16: 35,659,663 (GRCm39) |
R1653L |
probably benign |
Het |
Polq |
A |
G |
16: 36,837,720 (GRCm39) |
|
probably benign |
Het |
Sec31b |
A |
T |
19: 44,514,759 (GRCm39) |
|
probably benign |
Het |
Slc7a11 |
C |
T |
3: 50,336,334 (GRCm39) |
A337T |
possibly damaging |
Het |
Snapc3 |
A |
G |
4: 83,353,523 (GRCm39) |
I187M |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,699 (GRCm39) |
E352G |
probably benign |
Het |
Spout1 |
A |
C |
2: 30,065,067 (GRCm39) |
V311G |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,374,261 (GRCm39) |
K182M |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,976 (GRCm39) |
S200P |
possibly damaging |
Het |
|
Other mutations in Lrrc3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01761:Lrrc3b
|
APN |
14 |
15,358,098 (GRCm38) |
missense |
probably benign |
0.00 |
Klutz
|
UTSW |
14 |
15,357,946 (GRCm38) |
missense |
probably damaging |
1.00 |
BB008:Lrrc3b
|
UTSW |
14 |
15,358,018 (GRCm38) |
missense |
probably benign |
0.36 |
BB018:Lrrc3b
|
UTSW |
14 |
15,358,018 (GRCm38) |
missense |
probably benign |
0.36 |
PIT4810001:Lrrc3b
|
UTSW |
14 |
15,358,273 (GRCm38) |
missense |
probably benign |
0.17 |
R0371:Lrrc3b
|
UTSW |
14 |
15,358,560 (GRCm38) |
nonsense |
probably null |
|
R1750:Lrrc3b
|
UTSW |
14 |
15,358,601 (GRCm38) |
missense |
probably benign |
0.00 |
R2280:Lrrc3b
|
UTSW |
14 |
15,358,076 (GRCm38) |
missense |
probably damaging |
0.99 |
R4663:Lrrc3b
|
UTSW |
14 |
15,358,220 (GRCm38) |
missense |
probably benign |
0.01 |
R4929:Lrrc3b
|
UTSW |
14 |
15,357,888 (GRCm38) |
missense |
probably damaging |
1.00 |
R5344:Lrrc3b
|
UTSW |
14 |
15,358,591 (GRCm38) |
missense |
probably damaging |
1.00 |
R6537:Lrrc3b
|
UTSW |
14 |
15,357,946 (GRCm38) |
missense |
probably damaging |
1.00 |
R7301:Lrrc3b
|
UTSW |
14 |
15,357,934 (GRCm38) |
missense |
probably damaging |
1.00 |
R7931:Lrrc3b
|
UTSW |
14 |
15,358,018 (GRCm38) |
missense |
probably benign |
0.36 |
R8113:Lrrc3b
|
UTSW |
14 |
15,358,232 (GRCm38) |
missense |
probably benign |
0.01 |
R8220:Lrrc3b
|
UTSW |
14 |
15,358,004 (GRCm38) |
missense |
probably damaging |
1.00 |
R8834:Lrrc3b
|
UTSW |
14 |
15,358,562 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8955:Lrrc3b
|
UTSW |
14 |
15,358,159 (GRCm38) |
missense |
probably damaging |
1.00 |
R9445:Lrrc3b
|
UTSW |
14 |
15,358,552 (GRCm38) |
missense |
probably damaging |
1.00 |
R9522:Lrrc3b
|
UTSW |
14 |
15,358,423 (GRCm38) |
missense |
probably benign |
0.15 |
|
Posted On |
2016-08-02 |