Incidental Mutation 'R6537:Lrrc3b'
| ID |
520500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc3b
|
| Ensembl Gene |
ENSMUSG00000045201 |
| Gene Name |
leucine rich repeat containing 3B |
| Synonyms |
LRP15 |
| MMRRC Submission |
044663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7030776-7112248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15357946 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 220
(Y220C)
|
| 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: Y220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: Y220C
| 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: Y220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: Y220C
| 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: Y220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4836 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
| Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
| Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,413,284 (GRCm39) |
D22G |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
| Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
| Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
| Gm43302 |
A |
G |
5: 105,438,861 (GRCm39) |
I9T |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
| Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,874,094 (GRCm39) |
|
probably null |
Het |
| Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
| Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
| Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
| Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly damaging |
Het |
| Znhit6 |
A |
G |
3: 145,300,374 (GRCm39) |
I193V |
probably benign |
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 |
|
IGL03141:Lrrc3b
|
APN |
14 |
15,358,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGGCATGATTCCAAAGAAAC -3'
(R):5'- GCATGGCATCCAATCATGAGAC -3'
Sequencing Primer
(F):5'- GGGGGAAATGAATCACTTATTTTCC -3'
(R):5'- GACAGCACACAATGTGATTTGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation