Incidental Mutation 'R9761:Lrrc2'
| ID |
733019 |
| 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 # |
R9761 (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 110809942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000084922]
[ENSMUST00000199891]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035076
AA Change: D326G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: D326G
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,544,854 (GRCm39) |
T1411I |
possibly damaging |
Het |
| Ablim3 |
C |
A |
18: 61,952,885 (GRCm39) |
R393L |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Ankrd35 |
C |
T |
3: 96,591,733 (GRCm39) |
T673I |
possibly damaging |
Het |
| Atp11b |
A |
T |
3: 35,903,607 (GRCm39) |
K1114* |
probably null |
Het |
| Atp11b |
C |
T |
3: 35,903,621 (GRCm39) |
P947L |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,903,616 (GRCm39) |
D1117Y |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,550,844 (GRCm39) |
H243Q |
unknown |
Het |
| Dgkh |
A |
T |
14: 78,889,163 (GRCm39) |
S111R |
probably damaging |
Het |
| Dpp6 |
G |
A |
5: 27,869,743 (GRCm39) |
R505K |
probably benign |
Het |
| Elp4 |
C |
T |
2: 105,624,904 (GRCm39) |
G330S |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,994 (GRCm39) |
N5909I |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,729,064 (GRCm39) |
M792V |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,227 (GRCm39) |
L256P |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,751,275 (GRCm39) |
M1006I |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,530,011 (GRCm39) |
S514L |
probably damaging |
Het |
| Helz |
C |
A |
11: 107,560,874 (GRCm39) |
S1312* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,868,625 (GRCm39) |
I60V |
probably damaging |
Het |
| Ift81 |
A |
C |
5: 122,729,146 (GRCm39) |
D395E |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,563,031 (GRCm39) |
N123S |
probably benign |
Het |
| Klk1b1 |
C |
A |
7: 43,618,739 (GRCm39) |
H39N |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,839,779 (GRCm39) |
N46I |
possibly damaging |
Het |
| Klrg2 |
C |
A |
6: 38,607,287 (GRCm39) |
W241L |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,774,934 (GRCm39) |
N3S |
probably benign |
Het |
| Mansc1 |
A |
T |
6: 134,587,004 (GRCm39) |
L391Q |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,453 (GRCm39) |
R292H |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,119,754 (GRCm39) |
T59A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,648,057 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,934 (GRCm39) |
F159S |
probably benign |
Het |
| Or4f53 |
C |
A |
2: 111,087,606 (GRCm39) |
L49I |
probably benign |
Het |
| Or4f53 |
T |
G |
2: 111,087,607 (GRCm39) |
L49R |
possibly damaging |
Het |
| Or8g26 |
T |
C |
9: 39,096,146 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8k20 |
C |
T |
2: 86,106,150 (GRCm39) |
R227Q |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Poc1b |
C |
T |
10: 98,965,356 (GRCm39) |
S95F |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,049,998 (GRCm39) |
I104V |
unknown |
Het |
| Prkar1b |
C |
A |
5: 139,092,410 (GRCm39) |
V136L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,030 (GRCm39) |
I1351M |
probably damaging |
Het |
| Serpina3c |
G |
T |
12: 104,118,089 (GRCm39) |
A83D |
probably damaging |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,318,190 (GRCm39) |
|
probably null |
Het |
| Ticrr |
A |
G |
7: 79,345,313 (GRCm39) |
E1726G |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,623,136 (GRCm39) |
H892Q |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,903,987 (GRCm39) |
T1043A |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,519,218 (GRCm39) |
V100D |
probably damaging |
Het |
| Zim1 |
G |
C |
7: 6,680,771 (GRCm39) |
H297Q |
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 |
|
|
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 |
|
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'- TACTCTGTAAATGCTGCTAAGAAAAT -3'
(R):5'- GGTTCACAAATAGCCACAAATAATTT -3'
Sequencing Primer
(F):5'- TGGGTGCTGGGAATCAAACCC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation