Incidental Mutation 'R4499:Lrrc2'
ID |
331756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc2
|
Ensembl Gene |
ENSMUSG00000032495 |
Gene Name |
leucine rich repeat containing 2 |
Synonyms |
2400002D05Rik, 4933431K03Rik |
MMRRC Submission |
041752-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4499 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110791713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 155
(Q155L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000196834]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035076
AA Change: Q155L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000035076 Gene: ENSMUSG00000032495 AA Change: Q155L
Domain | Start | End | E-Value | Type |
Blast:LRR
|
143 |
165 |
5e-7 |
BLAST |
LRR_TYP
|
166 |
189 |
4.87e-4 |
SMART |
LRR
|
236 |
258 |
1.41e1 |
SMART |
LRR
|
259 |
282 |
2.27e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196834
AA Change: Q89L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000142360 Gene: ENSMUSG00000032495 AA Change: Q89L
Domain | Start | End | E-Value | Type |
Blast:LRR
|
77 |
99 |
2e-7 |
BLAST |
LRR_TYP
|
100 |
123 |
2e-6 |
SMART |
LRR
|
147 |
170 |
6.2e-1 |
SMART |
|
Meta Mutation Damage Score |
0.0841 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
Asnsd1 |
A |
G |
1: 53,387,129 (GRCm39) |
V166A |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
Dcaf4 |
T |
A |
12: 83,586,134 (GRCm39) |
L367Q |
probably damaging |
Het |
Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
Dgkq |
C |
G |
5: 108,797,527 (GRCm39) |
E788D |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
Psg25 |
C |
T |
7: 18,258,816 (GRCm39) |
E287K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
Slc9a8 |
T |
A |
2: 167,266,113 (GRCm39) |
L30Q |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
probably benign |
Het |
|
Other mutations in Lrrc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01796:Lrrc2
|
APN |
9 |
110,809,886 (GRCm39) |
splice site |
probably null |
|
IGL02243:Lrrc2
|
APN |
9 |
110,799,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Lrrc2
|
APN |
9 |
110,799,182 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02793:Lrrc2
|
APN |
9 |
110,808,695 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02958:Lrrc2
|
APN |
9 |
110,791,741 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4362001:Lrrc2
|
UTSW |
9 |
110,791,608 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0255:Lrrc2
|
UTSW |
9 |
110,809,966 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0472:Lrrc2
|
UTSW |
9 |
110,791,685 (GRCm39) |
missense |
probably benign |
0.00 |
R0909:Lrrc2
|
UTSW |
9 |
110,791,741 (GRCm39) |
critical splice donor site |
probably null |
|
R1575:Lrrc2
|
UTSW |
9 |
110,808,555 (GRCm39) |
missense |
probably benign |
0.07 |
R1619:Lrrc2
|
UTSW |
9 |
110,790,041 (GRCm39) |
missense |
probably benign |
0.00 |
R1669:Lrrc2
|
UTSW |
9 |
110,810,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R1778:Lrrc2
|
UTSW |
9 |
110,809,908 (GRCm39) |
missense |
probably benign |
|
R1914:Lrrc2
|
UTSW |
9 |
110,810,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Lrrc2
|
UTSW |
9 |
110,808,645 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3792:Lrrc2
|
UTSW |
9 |
110,795,585 (GRCm39) |
nonsense |
probably null |
|
R3793:Lrrc2
|
UTSW |
9 |
110,795,585 (GRCm39) |
nonsense |
probably null |
|
R4683:Lrrc2
|
UTSW |
9 |
110,791,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4693:Lrrc2
|
UTSW |
9 |
110,799,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Lrrc2
|
UTSW |
9 |
110,799,228 (GRCm39) |
critical splice donor site |
probably null |
|
R5033:Lrrc2
|
UTSW |
9 |
110,809,987 (GRCm39) |
missense |
probably damaging |
0.98 |
R5935:Lrrc2
|
UTSW |
9 |
110,795,629 (GRCm39) |
missense |
probably benign |
0.17 |
R6269:Lrrc2
|
UTSW |
9 |
110,810,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R6645:Lrrc2
|
UTSW |
9 |
110,799,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R6855:Lrrc2
|
UTSW |
9 |
110,782,250 (GRCm39) |
splice site |
probably null |
|
R7621:Lrrc2
|
UTSW |
9 |
110,809,899 (GRCm39) |
missense |
probably benign |
0.00 |
R7748:Lrrc2
|
UTSW |
9 |
110,809,999 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7827:Lrrc2
|
UTSW |
9 |
110,790,049 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8169:Lrrc2
|
UTSW |
9 |
110,809,954 (GRCm39) |
missense |
probably benign |
|
R8186:Lrrc2
|
UTSW |
9 |
110,789,910 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8458:Lrrc2
|
UTSW |
9 |
110,799,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R9146:Lrrc2
|
UTSW |
9 |
110,808,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:Lrrc2
|
UTSW |
9 |
110,791,722 (GRCm39) |
missense |
probably benign |
0.05 |
R9568:Lrrc2
|
UTSW |
9 |
110,799,228 (GRCm39) |
critical splice donor site |
probably null |
|
R9680:Lrrc2
|
UTSW |
9 |
110,791,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Lrrc2
|
UTSW |
9 |
110,809,942 (GRCm39) |
missense |
possibly damaging |
0.49 |
RF009:Lrrc2
|
UTSW |
9 |
110,810,744 (GRCm39) |
makesense |
probably null |
|
RF021:Lrrc2
|
UTSW |
9 |
110,810,744 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATAAATCCTTGGCTTGGAGC -3'
(R):5'- ATGATACTTCATGTCCCAAAGGG -3'
Sequencing Primer
(F):5'- CTTGGAGCACACAGAGGC -3'
(R):5'- GGACAAAGCCACGGTGAACC -3'
|
Posted On |
2015-07-21 |