Incidental Mutation 'RF021:Lrrc2'
| ID |
603889 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF021 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
TTGATTCGGTTCACC to T
at 110810744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000084922]
[ENSMUST00000199891]
|
| 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: ENSMUST00000084922
|
| SMART Domains |
Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
| Domain | Start | End | E-Value | Type |
|---|
|
zf-3CxxC
|
52 |
164 |
2.13e-52 |
SMART |
|
low complexity region
|
356 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199891
|
| SMART Domains |
Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
| Domain | Start | End | E-Value | Type |
|---|
|
zf-3CxxC
|
52 |
164 |
2.13e-52 |
SMART |
|
low complexity region
|
356 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,817,471 (GRCm39) |
H79R |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,159,273 (GRCm39) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,630,905 (GRCm39) |
V224A |
probably benign |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,078,156 (GRCm39) |
A515V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,734,785 (GRCm39) |
F402S |
possibly damaging |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,971 (GRCm39) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,542,290 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,602,084 (GRCm39) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,513,690 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,283,218 (GRCm39) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,089,554 (GRCm39) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,085,507 (GRCm39) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,453,289 (GRCm39) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,712,750 (GRCm39) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,586,372 (GRCm39) |
T912A |
probably damaging |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 92,925,602 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
C |
3: 58,980,711 (GRCm39) |
F359S |
probably benign |
Het |
| Mmut |
A |
G |
17: 41,262,649 (GRCm39) |
I444V |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,219,333 (GRCm39) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,250,824 (GRCm39) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 95,203,516 (GRCm39) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,673 (GRCm39) |
D190G |
probably damaging |
Het |
| Or6c2b |
A |
T |
10: 128,948,211 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,341 (GRCm39) |
M81L |
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,609,956 (GRCm39) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 30,949,798 (GRCm39) |
H660Y |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,954,440 (GRCm39) |
V31E |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,608,397 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 138,918,011 (GRCm39) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 29,923,771 (GRCm39) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,030 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,674,060 (GRCm39) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,381,660 (GRCm39) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,579,115 (GRCm39) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,223,553 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
G |
1: 192,802,974 (GRCm39) |
F248L |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,129 (GRCm39) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,661,587 (GRCm39) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,665,439 (GRCm39) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,341,811 (GRCm39) |
N63K |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATTTGTGGCTATTTGTGAACCA -3'
(R):5'- GTGCATTCGTCTGCTAACATTAA -3'
Sequencing Primer
(F):5'- TTGATCCCAGCATTCAGGAG -3'
(R):5'- GACTTTGTCCTTAAGCACAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation