Incidental Mutation 'IGL02958:Lrrc2'
ID |
365241 |
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 # |
IGL02958
|
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 A
at 110791741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000196834]
|
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
|
Predicted Effect |
probably null
Transcript: ENSMUST00000196834
|
SMART Domains |
Protein: ENSMUSP00000142360 Gene: ENSMUSG00000032495
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
T |
17: 45,829,098 (GRCm39) |
V755L |
probably benign |
Het |
Abhd15 |
T |
C |
11: 77,406,791 (GRCm39) |
V256A |
possibly damaging |
Het |
Agtr1b |
A |
T |
3: 20,370,258 (GRCm39) |
V116E |
possibly damaging |
Het |
Ahi1 |
A |
T |
10: 20,839,698 (GRCm39) |
D203V |
probably damaging |
Het |
Aplp2 |
G |
T |
9: 31,075,972 (GRCm39) |
|
probably benign |
Het |
Arid4a |
T |
C |
12: 71,144,337 (GRCm39) |
S1249P |
probably benign |
Het |
Asz1 |
T |
A |
6: 18,073,813 (GRCm39) |
K298M |
possibly damaging |
Het |
C4bp |
A |
G |
1: 130,564,532 (GRCm39) |
I384T |
probably damaging |
Het |
Cacna1e |
C |
A |
1: 154,341,487 (GRCm39) |
A1236S |
probably damaging |
Het |
Cdh13 |
T |
C |
8: 120,039,460 (GRCm39) |
I634T |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,624,263 (GRCm39) |
F524L |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,696,271 (GRCm39) |
R2051H |
probably damaging |
Het |
Dnajc17 |
T |
C |
2: 119,016,243 (GRCm39) |
K77E |
probably benign |
Het |
Efhc2 |
C |
T |
X: 17,027,485 (GRCm39) |
|
probably benign |
Het |
Ergic2 |
A |
T |
6: 148,083,441 (GRCm39) |
*50K |
probably null |
Het |
Fam83g |
C |
T |
11: 61,598,548 (GRCm39) |
P812S |
probably damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Itih3 |
T |
C |
14: 30,635,139 (GRCm39) |
T73A |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,307,851 (GRCm39) |
S72G |
probably damaging |
Het |
Kcnn4 |
T |
C |
7: 24,074,170 (GRCm39) |
V78A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,192,928 (GRCm39) |
D1353V |
probably damaging |
Het |
Mplkipl1 |
G |
T |
19: 61,164,118 (GRCm39) |
Q106K |
possibly damaging |
Het |
Ndufs8 |
T |
C |
19: 3,961,232 (GRCm39) |
E45G |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,870,085 (GRCm39) |
|
probably null |
Het |
Nxt1 |
A |
G |
2: 148,517,692 (GRCm39) |
|
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,127 (GRCm39) |
Y256C |
probably benign |
Het |
Or5al5 |
T |
A |
2: 85,961,351 (GRCm39) |
I219F |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,288,804 (GRCm39) |
C865* |
probably null |
Het |
Pop1 |
G |
T |
15: 34,530,509 (GRCm39) |
C969F |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,712 (GRCm39) |
I16S |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,897 (GRCm39) |
V1863A |
possibly damaging |
Het |
Slc15a4 |
A |
T |
5: 127,681,729 (GRCm39) |
L296Q |
possibly damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,625 (GRCm39) |
G34R |
probably damaging |
Het |
Ssr4 |
T |
C |
X: 72,830,856 (GRCm39) |
|
probably benign |
Het |
Supt20 |
T |
A |
3: 54,621,144 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
A |
T |
12: 98,930,803 (GRCm39) |
K282N |
probably benign |
Het |
Usp40 |
A |
T |
1: 87,906,207 (GRCm39) |
V676E |
probably damaging |
Het |
Vmn1r43 |
T |
C |
6: 89,847,031 (GRCm39) |
I152V |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,949,361 (GRCm39) |
I594F |
probably benign |
Het |
Vps53 |
A |
C |
11: 76,008,537 (GRCm39) |
I261S |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,370,150 (GRCm39) |
|
probably null |
Het |
Zc3hav1 |
T |
A |
6: 38,309,919 (GRCm39) |
D301V |
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 |
|
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 |
|
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 |