Incidental Mutation 'R9146:Lrrc2'
ID |
694651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc2
|
Ensembl Gene |
ENSMUSG00000032495 |
Gene Name |
leucine rich repeat containing 2 |
Synonyms |
2400002D05Rik, 4933431K03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9146 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110808582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 273
(T273I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035076
AA Change: T273I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035076 Gene: ENSMUSG00000032495 AA Change: T273I
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
|
Meta Mutation Damage Score |
0.3080 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (54/55) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
G |
A |
5: 137,289,077 (GRCm39) |
G261D |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,561,291 (GRCm39) |
T5408S |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,359,200 (GRCm39) |
N362D |
probably benign |
Het |
Aff4 |
A |
G |
11: 53,298,963 (GRCm39) |
N956S |
probably benign |
Het |
Alg10b |
A |
G |
15: 90,112,401 (GRCm39) |
E415G |
probably damaging |
Het |
Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
Cage1 |
T |
C |
13: 38,207,005 (GRCm39) |
D280G |
probably benign |
Het |
Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,377,665 (GRCm39) |
E1565G |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,048,832 (GRCm39) |
Y2290F |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,527,344 (GRCm39) |
H230L |
|
Het |
Efhb |
A |
G |
17: 53,769,644 (GRCm39) |
S222P |
probably benign |
Het |
Emilin2 |
G |
A |
17: 71,581,331 (GRCm39) |
T465M |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,849,635 (GRCm39) |
Y1431* |
probably null |
Het |
Gm10912 |
T |
C |
2: 103,897,053 (GRCm39) |
V64A |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,273,206 (GRCm39) |
S197P |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,924,571 (GRCm39) |
Y452C |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,097 (GRCm39) |
I3364T |
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,474,141 (GRCm39) |
T4767M |
probably benign |
Het |
Hspa4l |
A |
G |
3: 40,736,101 (GRCm39) |
D595G |
probably benign |
Het |
Kdm1a |
G |
T |
4: 136,329,739 (GRCm39) |
T53K |
unknown |
Het |
Kirrel1 |
T |
C |
3: 87,003,015 (GRCm39) |
D126G |
probably damaging |
Het |
Kit |
T |
A |
5: 75,810,305 (GRCm39) |
D822E |
probably damaging |
Het |
Kiz |
C |
T |
2: 146,705,740 (GRCm39) |
T100M |
probably benign |
Het |
Kmt2a |
T |
A |
9: 44,725,938 (GRCm39) |
K3663* |
probably null |
Het |
Krt8 |
T |
A |
15: 101,907,370 (GRCm39) |
I238F |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,405 (GRCm39) |
P471S |
|
Het |
Lca5l |
T |
C |
16: 95,960,998 (GRCm39) |
E493G |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,869,303 (GRCm39) |
S31P |
probably benign |
Het |
Mmp1a |
A |
G |
9: 7,464,997 (GRCm39) |
D77G |
probably damaging |
Het |
Mrgprb8 |
T |
A |
7: 48,039,200 (GRCm39) |
C290* |
probably null |
Het |
Nfe2l3 |
G |
T |
6: 51,410,172 (GRCm39) |
A96S |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,011,854 (GRCm39) |
D624G |
probably damaging |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or52n2 |
T |
A |
7: 104,542,452 (GRCm39) |
I128F |
probably damaging |
Het |
Or6c7 |
T |
C |
10: 129,323,392 (GRCm39) |
V171A |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,334,351 (GRCm39) |
A222T |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
Pik3r1 |
C |
A |
13: 101,825,136 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,182,615 (GRCm39) |
Y642N |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,184,252 (GRCm39) |
H1538L |
probably benign |
Het |
Raph1 |
A |
G |
1: 60,558,137 (GRCm39) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,334,499 (GRCm39) |
F3237S |
|
Het |
Sctr |
A |
G |
1: 119,982,010 (GRCm39) |
D286G |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 178,920,529 (GRCm39) |
S202P |
probably damaging |
Het |
Ssh2 |
G |
A |
11: 77,328,502 (GRCm39) |
G356E |
probably damaging |
Het |
Stat3 |
A |
T |
11: 100,784,492 (GRCm39) |
S629R |
probably benign |
Het |
Stc2 |
A |
G |
11: 31,317,847 (GRCm39) |
V58A |
probably damaging |
Het |
Tcerg1l |
T |
A |
7: 137,831,588 (GRCm39) |
D463V |
probably damaging |
Het |
Tctn1 |
A |
G |
5: 122,389,745 (GRCm39) |
V259A |
possibly damaging |
Het |
Tmem248 |
A |
G |
5: 130,260,851 (GRCm39) |
T139A |
probably benign |
Het |
Trip12 |
G |
T |
1: 84,771,881 (GRCm39) |
A89E |
possibly damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,366,647 (GRCm39) |
V96I |
probably benign |
Het |
Vmn2r79 |
C |
T |
7: 86,650,681 (GRCm39) |
Q156* |
probably null |
Het |
Zfp831 |
C |
A |
2: 174,487,461 (GRCm39) |
T712N |
possibly damaging |
Het |
Zfy1 |
A |
T |
Y: 726,033 (GRCm39) |
H577Q |
possibly damaging |
Het |
Zscan4-ps2 |
T |
G |
7: 11,251,679 (GRCm39) |
S238R |
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 |
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'- AGGCGTAAGGTCATGGTTGC -3'
(R):5'- GGAGCAAGGTTAGATTCTCCGG -3'
Sequencing Primer
(F):5'- GGTCATGGTTGCGCGCG -3'
(R):5'- AGCAAGGTTAGATTCTCCGGAGTATG -3'
|
Posted On |
2022-01-20 |