Incidental Mutation 'R6269:Lrrc2'
ID |
507232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc2
|
Ensembl Gene |
ENSMUSG00000032495 |
Gene Name |
leucine rich repeat containing 2 |
Synonyms |
2400002D05Rik, 4933431K03Rik |
MMRRC Submission |
044440-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6269 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110780613-110813134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110810017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 351
(D351G)
|
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 damaging
Transcript: ENSMUST00000035076
AA Change: D351G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035076 Gene: ENSMUSG00000032495 AA Change: D351G
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTTGAACAGTCCCAGTAAACA -3'
(R):5'- GGTTCACAAATAGCCACAAATAATTT -3'
Sequencing Primer
(F):5'- AGTAAACACGTGCGCTTTCTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2018-03-15 |