Incidental Mutation 'R8186:Lrrc2'
| ID |
634870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc2
|
| Ensembl Gene |
ENSMUSG00000032495 |
| Gene Name |
leucine rich repeat containing 2 |
| Synonyms |
2400002D05Rik, 4933431K03Rik |
| MMRRC Submission |
067609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110789910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 56
(K56E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000196834]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035076
AA Change: K56E
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: K56E
| 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 |
|
| Predicted Effect |
probably benign
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
A |
6: 86,085,002 (GRCm39) |
V543M |
probably benign |
Het |
| Agl |
A |
G |
3: 116,552,557 (GRCm39) |
I459T |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,945,714 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,748,031 (GRCm39) |
R48* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,031,050 (GRCm39) |
T125M |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,895 (GRCm39) |
F50L |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,725,233 (GRCm39) |
D1187E |
unknown |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Cped1 |
T |
C |
6: 22,123,587 (GRCm39) |
S447P |
probably benign |
Het |
| Ddx19a |
T |
A |
8: 111,710,274 (GRCm39) |
M109L |
probably benign |
Het |
| Def8 |
C |
A |
8: 124,188,215 (GRCm39) |
Y431* |
probably null |
Het |
| Gata4 |
A |
G |
14: 63,438,962 (GRCm39) |
S373P |
probably benign |
Het |
| Gm9837 |
A |
T |
11: 53,361,136 (GRCm39) |
L26* |
probably null |
Het |
| Hspa1b |
A |
T |
17: 35,176,557 (GRCm39) |
V476E |
probably damaging |
Het |
| Htr5b |
G |
A |
1: 121,456,108 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,336,277 (GRCm39) |
V5018A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,923 (GRCm39) |
S26P |
probably benign |
Het |
| Kics2 |
T |
A |
10: 121,581,247 (GRCm39) |
F83I |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,219 (GRCm39) |
I6793N |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,275,923 (GRCm39) |
V6215G |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,716,355 (GRCm39) |
|
probably null |
Het |
| Odad4 |
A |
G |
11: 100,454,505 (GRCm39) |
D430G |
probably benign |
Het |
| Oprk1 |
A |
T |
1: 5,672,540 (GRCm39) |
M226L |
probably benign |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Phf2 |
A |
G |
13: 48,961,227 (GRCm39) |
L821P |
unknown |
Het |
| Rdh7 |
C |
A |
10: 127,723,284 (GRCm39) |
|
probably null |
Het |
| Rpl11 |
A |
G |
4: 135,778,968 (GRCm39) |
V74A |
possibly damaging |
Het |
| Safb2 |
G |
A |
17: 56,873,051 (GRCm39) |
R790C |
possibly damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,609 (GRCm39) |
F204S |
probably benign |
Het |
| Sgsm3 |
A |
C |
15: 80,893,643 (GRCm39) |
I426L |
possibly damaging |
Het |
| Speer1b |
A |
G |
5: 11,823,926 (GRCm39) |
D158G |
probably damaging |
Het |
| Styxl2 |
A |
G |
1: 165,927,648 (GRCm39) |
S655P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,637,189 (GRCm39) |
L545P |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,489 (GRCm39) |
F127L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,749,256 (GRCm39) |
Q3931P |
probably damaging |
Het |
| Tuba1c |
C |
A |
15: 98,935,396 (GRCm39) |
L286I |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,507 (GRCm39) |
R528G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,867 (GRCm39) |
T1068A |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,205 (GRCm39) |
T660S |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,444,880 (GRCm39) |
Y537* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,157 (GRCm39) |
I744F |
|
Het |
| Wnt9b |
T |
C |
11: 103,621,601 (GRCm39) |
E352G |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,376,228 (GRCm39) |
N46D |
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 |
|
|
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 |
|
|
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'- GGTCTCAGATTTCCCAGCATCC -3'
(R):5'- CAACCATGAGTGCCCACTTG -3'
Sequencing Primer
(F):5'- ATCCCTGGTGGCTGGAAG -3'
(R):5'- TGAGTGCCCACTTGCCACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation