Incidental Mutation 'R8834:Lrrc66'
| ID |
674025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc66
|
| Ensembl Gene |
ENSMUSG00000067206 |
| Gene Name |
leucine rich repeat containing 66 |
| Synonyms |
|
| MMRRC Submission |
068662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 73765928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 372
(A372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
| AlphaFold |
Q8K0B3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087177
AA Change: A372P
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: A372P
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,877,372 (GRCm39) |
T1007A |
probably benign |
Het |
| Adcy6 |
A |
G |
15: 98,498,922 (GRCm39) |
L293P |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,471,735 (GRCm39) |
V260E |
possibly damaging |
Het |
| Capn3 |
T |
A |
2: 120,294,534 (GRCm39) |
F61I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,964 (GRCm39) |
S578G |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,049 (GRCm39) |
Y714C |
probably damaging |
Het |
| Dnah14 |
T |
G |
1: 181,444,315 (GRCm39) |
F542V |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,140,834 (GRCm39) |
V1350A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,306 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,942,493 (GRCm39) |
G1293E |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,395,581 (GRCm39) |
V985A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,922,610 (GRCm39) |
D397G |
probably damaging |
Het |
| Gan |
C |
G |
8: 117,885,031 (GRCm39) |
P53R |
|
Het |
| Gcc2 |
T |
C |
10: 58,121,867 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,689,314 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,563,820 (GRCm39) |
F2L |
|
Het |
| Heatr5a |
A |
G |
12: 51,956,739 (GRCm39) |
|
probably null |
Het |
| Kifc2 |
T |
A |
15: 76,551,250 (GRCm39) |
H681Q |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,236 (GRCm39) |
S161C |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,562 (GRCm38) |
C15R |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,161,433 (GRCm39) |
R884H |
probably benign |
Het |
| Map2k6 |
T |
A |
11: 110,383,419 (GRCm39) |
C109* |
probably null |
Het |
| Mapk9 |
C |
T |
11: 49,774,010 (GRCm39) |
S389L |
probably damaging |
Het |
| Mier2 |
C |
T |
10: 79,386,293 (GRCm39) |
G57D |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,208,419 (GRCm39) |
M98K |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,904,511 (GRCm39) |
L196P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,164 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,830,589 (GRCm39) |
S456G |
possibly damaging |
Het |
| Phf12 |
T |
A |
11: 77,897,608 (GRCm39) |
C102S |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,502,023 (GRCm39) |
C47R |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 127,990,809 (GRCm39) |
I93T |
probably damaging |
Het |
| Ror2 |
CCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTC |
13: 53,264,338 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,416,431 (GRCm39) |
F579Y |
possibly damaging |
Het |
| Selplg |
G |
A |
5: 113,957,691 (GRCm39) |
S205L |
possibly damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,955,999 (GRCm39) |
V109A |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,807,845 (GRCm39) |
S336P |
|
Het |
| Tlr2 |
C |
A |
3: 83,746,020 (GRCm39) |
R21L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,963,528 (GRCm39) |
V565I |
possibly damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,331,058 (GRCm39) |
S390T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,785 (GRCm39) |
V1514A |
probably benign |
Het |
| Uchl5 |
A |
T |
1: 143,661,968 (GRCm39) |
K81* |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Usp12 |
T |
A |
5: 146,691,327 (GRCm39) |
E142D |
probably benign |
Het |
| V1ra8 |
A |
T |
6: 90,180,622 (GRCm39) |
D275V |
unknown |
Het |
| Zfp804a |
A |
G |
2: 82,089,441 (GRCm39) |
H1090R |
possibly damaging |
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 |
|
R7925:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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'- TGAGCACCTTCAATGTCGCC -3'
(R):5'- AGGGATACACACCTTCTTCTGTC -3'
Sequencing Primer
(F):5'- TTCAATGTCGCCATGGAAGC -3'
(R):5'- CTGTCTCCTCCAAGTGACTTGAAAAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation