Incidental Mutation 'IGL02243:Lrrc2'
| ID |
286070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc2
|
| Ensembl Gene |
ENSMUSG00000032495 |
| Gene Name |
leucine rich repeat containing 2 |
| Synonyms |
2400002D05Rik, 4933431K03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110799125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 158
(N158I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000196834]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035076
AA Change: N224I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: N224I
| 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 damaging
Transcript: ENSMUST00000196834
AA Change: N158I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142360
Gene: ENSMUSG00000032495
AA Change: N158I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
| Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
| M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
| Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
| Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
| Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
| Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
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 |
|
|
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 |
|
|
R4499:Lrrc2
|
UTSW |
9 |
110,791,713 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation