Incidental Mutation 'R5830:Lrr1'
| ID |
449279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrr1
|
| Ensembl Gene |
ENSMUSG00000034883 |
| Gene Name |
leucine rich repeat protein 1 |
| Synonyms |
2410005L11Rik, Ppil5, LRR-1 |
| MMRRC Submission |
043219-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69215588-69225783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69225445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 374
(S374T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054544]
[ENSMUST00000110619]
[ENSMUST00000110620]
[ENSMUST00000110621]
[ENSMUST00000222520]
|
| AlphaFold |
D3YY91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054544
|
| SMART Domains |
Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
94 |
6.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110619
|
| SMART Domains |
Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
95 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110620
|
| SMART Domains |
Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
95 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110621
AA Change: S374T
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883
AA Change: S374T
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
184 |
206 |
8.09e-1 |
SMART |
|
LRR
|
207 |
230 |
4.57e0 |
SMART |
|
LRR
|
234 |
255 |
7.17e1 |
SMART |
|
LRR
|
256 |
278 |
1.71e2 |
SMART |
|
LRR
|
279 |
301 |
6.05e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223192
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| 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 contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec3 |
A |
T |
15: 79,783,268 (GRCm39) |
N115I |
possibly damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,539 (GRCm39) |
S101G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,572 (GRCm39) |
H571N |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,312,016 (GRCm39) |
R99* |
probably null |
Het |
| Cdyl2 |
A |
G |
8: 117,321,823 (GRCm39) |
Y235H |
probably benign |
Het |
| Chmp2a |
T |
C |
7: 12,766,039 (GRCm39) |
D161G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,831,862 (GRCm39) |
W2091R |
unknown |
Het |
| Epha8 |
G |
A |
4: 136,663,701 (GRCm39) |
Q452* |
probably null |
Het |
| Fbn2 |
A |
G |
18: 58,247,541 (GRCm39) |
F451S |
probably benign |
Het |
| Fndc1 |
C |
A |
17: 8,007,918 (GRCm39) |
R72L |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,699,888 (GRCm39) |
E81G |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,200,433 (GRCm39) |
V358A |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,545,548 (GRCm39) |
Y92* |
probably null |
Het |
| Il34 |
A |
G |
8: 111,475,323 (GRCm39) |
V71A |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,427 (GRCm39) |
F416L |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,675,262 (GRCm39) |
S125P |
possibly damaging |
Het |
| Ldb1 |
T |
A |
19: 46,022,557 (GRCm39) |
M307L |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,713,274 (GRCm39) |
I412V |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,589 (GRCm39) |
I298V |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,910 (GRCm39) |
F384L |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,542 (GRCm39) |
E51G |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,382 (GRCm39) |
H165Y |
possibly damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,457 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,178,398 (GRCm39) |
F582Y |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,522,023 (GRCm39) |
Y196* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,043,325 (GRCm39) |
M1K |
probably null |
Het |
| Scn7a |
A |
T |
2: 66,544,395 (GRCm39) |
Y365* |
probably null |
Het |
| Sec16a |
A |
T |
2: 26,330,853 (GRCm39) |
D387E |
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,799,945 (GRCm39) |
F127Y |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,399,151 (GRCm39) |
N82K |
probably damaging |
Het |
| Zfp358 |
G |
T |
8: 3,545,846 (GRCm39) |
V143L |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,079,323 (GRCm39) |
N878S |
possibly damaging |
Het |
|
| Other mutations in Lrr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Lrr1
|
APN |
12 |
69,221,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02399:Lrr1
|
APN |
12 |
69,215,665 (GRCm39) |
nonsense |
probably null |
|
|
R0525:Lrr1
|
UTSW |
12 |
69,215,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Lrr1
|
UTSW |
12 |
69,221,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2375:Lrr1
|
UTSW |
12 |
69,221,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4748:Lrr1
|
UTSW |
12 |
69,221,236 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5283:Lrr1
|
UTSW |
12 |
69,221,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Lrr1
|
UTSW |
12 |
69,221,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Lrr1
|
UTSW |
12 |
69,215,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Lrr1
|
UTSW |
12 |
69,221,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Lrr1
|
UTSW |
12 |
69,215,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8431:Lrr1
|
UTSW |
12 |
69,225,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9400:Lrr1
|
UTSW |
12 |
69,221,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9663:Lrr1
|
UTSW |
12 |
69,221,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGTCCTGAAATAAGAGTAATAC -3'
(R):5'- CGAGTCAAATGTTGAAAATGCTAAC -3'
Sequencing Primer
(F):5'- GTCTACAGAGCTAGTTCCAGGAC -3'
(R):5'- GTAAGAGACAACAGGAGCTT -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation