Incidental Mutation 'IGL02793:Lrrc2'
| ID |
359860 |
| 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 # |
IGL02793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 110808695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035076
|
| SMART Domains |
Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Bco2 |
A |
T |
9: 50,455,834 (GRCm39) |
V173E |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Cdh15 |
T |
A |
8: 123,587,721 (GRCm39) |
V215E |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,144 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,156,648 (GRCm39) |
D143N |
probably damaging |
Het |
| Fabp3-ps1 |
T |
A |
10: 86,567,943 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,323,256 (GRCm39) |
R116Q |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,564,821 (GRCm39) |
E34G |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,734,378 (GRCm39) |
K104* |
probably null |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,962,072 (GRCm39) |
M1499V |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Map2k5 |
T |
C |
9: 63,164,321 (GRCm39) |
I328V |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
A |
G |
2: 156,791,952 (GRCm39) |
|
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,397,639 (GRCm39) |
Y136D |
probably damaging |
Het |
| Or10ak9 |
A |
T |
4: 118,726,794 (GRCm39) |
D271V |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,372,802 (GRCm39) |
E22G |
probably benign |
Het |
| Rab18 |
T |
C |
18: 6,788,474 (GRCm39) |
|
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,860,005 (GRCm39) |
L1025P |
probably damaging |
Het |
| Rtca |
A |
G |
3: 116,286,726 (GRCm39) |
F302S |
probably damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,464,828 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Sval2 |
A |
C |
6: 41,838,795 (GRCm39) |
Y11S |
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Tlr4 |
A |
C |
4: 66,757,681 (GRCm39) |
H158P |
probably damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,576 (GRCm39) |
E927G |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,973,907 (GRCm39) |
N178S |
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 |
|
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 |
2015-12-18 |
Incidental Mutation