Incidental Mutation 'R7925:Lrrc66'
ID |
643264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc66
|
Ensembl Gene |
ENSMUSG00000067206 |
Gene Name |
leucine rich repeat containing 66 |
Synonyms |
|
MMRRC Submission |
045972-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R7925 (G1)
|
Quality Score |
999 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73765835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 403
(C403S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
AlphaFold |
Q8K0B3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087177
AA Change: C403S
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084423 Gene: ENSMUSG00000067206 AA Change: C403S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LRR
|
140 |
162 |
1.81e1 |
SMART |
LRR_TYP
|
163 |
186 |
9.44e-2 |
SMART |
LRR
|
187 |
210 |
1.26e2 |
SMART |
LRR
|
211 |
234 |
4.84e1 |
SMART |
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
low complexity region
|
842 |
859 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
Gm8126 |
A |
G |
14: 43,119,023 (GRCm39) |
N164S |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
Pdgfra |
T |
A |
5: 75,353,079 (GRCm39) |
|
probably benign |
Het |
Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
probably benign |
Het |
|
Other mutations in Lrrc66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Lrrc66
|
APN |
5 |
73,764,457 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00913:Lrrc66
|
APN |
5 |
73,765,499 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL00954:Lrrc66
|
APN |
5 |
73,765,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01061:Lrrc66
|
APN |
5 |
73,772,842 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01343:Lrrc66
|
APN |
5 |
73,765,806 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01714:Lrrc66
|
APN |
5 |
73,787,320 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01822:Lrrc66
|
APN |
5 |
73,787,311 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02005:Lrrc66
|
APN |
5 |
73,766,077 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02166:Lrrc66
|
APN |
5 |
73,764,634 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02380:Lrrc66
|
APN |
5 |
73,787,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03162:Lrrc66
|
APN |
5 |
73,764,725 (GRCm39) |
missense |
probably benign |
|
BB002:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
BB012:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
D4043:Lrrc66
|
UTSW |
5 |
73,764,869 (GRCm39) |
missense |
probably benign |
0.03 |
R0126:Lrrc66
|
UTSW |
5 |
73,764,431 (GRCm39) |
missense |
probably benign |
0.10 |
R0437:Lrrc66
|
UTSW |
5 |
73,765,030 (GRCm39) |
missense |
probably benign |
0.23 |
R0638:Lrrc66
|
UTSW |
5 |
73,772,816 (GRCm39) |
splice site |
probably benign |
|
R0658:Lrrc66
|
UTSW |
5 |
73,768,287 (GRCm39) |
missense |
probably benign |
0.40 |
R0729:Lrrc66
|
UTSW |
5 |
73,765,757 (GRCm39) |
missense |
probably benign |
|
R1603:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1774:Lrrc66
|
UTSW |
5 |
73,768,198 (GRCm39) |
missense |
probably benign |
0.16 |
R1831:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1832:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1902:Lrrc66
|
UTSW |
5 |
73,764,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R2858:Lrrc66
|
UTSW |
5 |
73,764,646 (GRCm39) |
missense |
probably benign |
0.08 |
R4097:Lrrc66
|
UTSW |
5 |
73,765,047 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4164:Lrrc66
|
UTSW |
5 |
73,787,119 (GRCm39) |
splice site |
probably null |
|
R4582:Lrrc66
|
UTSW |
5 |
73,765,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4708:Lrrc66
|
UTSW |
5 |
73,787,005 (GRCm39) |
missense |
probably benign |
0.06 |
R4856:Lrrc66
|
UTSW |
5 |
73,765,910 (GRCm39) |
missense |
probably benign |
0.10 |
R4886:Lrrc66
|
UTSW |
5 |
73,765,910 (GRCm39) |
missense |
probably benign |
0.10 |
R5074:Lrrc66
|
UTSW |
5 |
73,765,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Lrrc66
|
UTSW |
5 |
73,765,622 (GRCm39) |
missense |
probably benign |
0.05 |
R5640:Lrrc66
|
UTSW |
5 |
73,765,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5709:Lrrc66
|
UTSW |
5 |
73,766,206 (GRCm39) |
missense |
probably benign |
|
R5811:Lrrc66
|
UTSW |
5 |
73,772,860 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6146:Lrrc66
|
UTSW |
5 |
73,765,432 (GRCm39) |
missense |
probably benign |
0.10 |
R7037:Lrrc66
|
UTSW |
5 |
73,764,504 (GRCm39) |
missense |
probably benign |
0.10 |
R7041:Lrrc66
|
UTSW |
5 |
73,765,899 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7141:Lrrc66
|
UTSW |
5 |
73,787,320 (GRCm39) |
missense |
probably benign |
0.10 |
R7201:Lrrc66
|
UTSW |
5 |
73,787,240 (GRCm39) |
missense |
probably benign |
0.11 |
R7250:Lrrc66
|
UTSW |
5 |
73,768,224 (GRCm39) |
missense |
probably benign |
0.03 |
R7367:Lrrc66
|
UTSW |
5 |
73,765,724 (GRCm39) |
missense |
probably benign |
0.13 |
R7773:Lrrc66
|
UTSW |
5 |
73,764,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R8057:Lrrc66
|
UTSW |
5 |
73,764,875 (GRCm39) |
nonsense |
probably null |
|
R8167:Lrrc66
|
UTSW |
5 |
73,786,952 (GRCm39) |
nonsense |
probably null |
|
R8552:Lrrc66
|
UTSW |
5 |
73,768,228 (GRCm39) |
missense |
probably benign |
0.16 |
R8834:Lrrc66
|
UTSW |
5 |
73,765,928 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8992:Lrrc66
|
UTSW |
5 |
73,787,227 (GRCm39) |
missense |
probably benign |
0.04 |
R9017:Lrrc66
|
UTSW |
5 |
73,765,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9051:Lrrc66
|
UTSW |
5 |
73,765,268 (GRCm39) |
missense |
probably benign |
0.00 |
R9051:Lrrc66
|
UTSW |
5 |
73,765,267 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTGGACAGCACTGTGTGG -3'
(R):5'- CGAAGGATGGCTATGGTGATC -3'
Sequencing Primer
(F):5'- ACAGCACTGTGTGGGATTG -3'
(R):5'- ATCTCAGAGGGATGTGGCCAC -3'
|
Posted On |
2020-08-07 |