Incidental Mutation 'R0658:Lrrc66'
| ID |
62608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc66
|
| Ensembl Gene |
ENSMUSG00000067206 |
| Gene Name |
leucine rich repeat containing 66 |
| Synonyms |
|
| MMRRC Submission |
038843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R0658 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 73768287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 218
(D218A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
| AlphaFold |
Q8K0B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087177
AA Change: D218A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: D218A
| 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 |
|
| Meta Mutation Damage Score |
0.6559 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,965,827 (GRCm39) |
|
probably null |
Het |
| Acsl3 |
A |
G |
1: 78,679,004 (GRCm39) |
D520G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,796,560 (GRCm39) |
V623A |
probably benign |
Het |
| Ak9 |
G |
T |
10: 41,223,218 (GRCm39) |
V454L |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,482,558 (GRCm39) |
K483N |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,893,281 (GRCm39) |
Y974C |
probably damaging |
Het |
| Armc8 |
C |
T |
9: 99,418,211 (GRCm39) |
|
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,595,696 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
C |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
| Caps2 |
T |
A |
10: 112,039,943 (GRCm39) |
|
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,756,374 (GRCm39) |
S486P |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,735,265 (GRCm39) |
R583H |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,555,363 (GRCm39) |
|
probably benign |
Het |
| Commd5 |
T |
A |
15: 76,784,768 (GRCm39) |
V55E |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,874,543 (GRCm39) |
D684E |
possibly damaging |
Het |
| Ctxn2 |
T |
C |
2: 124,989,376 (GRCm39) |
M1T |
probably null |
Het |
| Exph5 |
A |
G |
9: 53,288,775 (GRCm39) |
D1952G |
unknown |
Het |
| Fmo2 |
A |
T |
1: 162,704,343 (GRCm39) |
L521Q |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,222,702 (GRCm39) |
T1960S |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,967,017 (GRCm39) |
L264P |
probably damaging |
Het |
| Gne |
A |
T |
4: 44,039,033 (GRCm39) |
V647E |
possibly damaging |
Het |
| Grb14 |
G |
A |
2: 64,745,071 (GRCm39) |
Q96* |
probably null |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,134 (GRCm39) |
F146L |
probably damaging |
Het |
| Gvin3 |
C |
A |
7: 106,202,093 (GRCm39) |
V384L |
possibly damaging |
Het |
| Irak2 |
A |
G |
6: 113,615,525 (GRCm39) |
Y6C |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,679,965 (GRCm39) |
N75I |
probably damaging |
Het |
| Lgr4 |
T |
A |
2: 109,842,132 (GRCm39) |
F706I |
possibly damaging |
Het |
| Lox |
A |
T |
18: 52,661,955 (GRCm39) |
S149R |
probably benign |
Het |
| Luc7l |
C |
T |
17: 26,485,296 (GRCm39) |
R99W |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,385,968 (GRCm39) |
V327A |
probably benign |
Het |
| Mthfd1l |
G |
T |
10: 3,997,976 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,175,358 (GRCm39) |
|
probably null |
Het |
| Or5b109 |
A |
T |
19: 13,212,424 (GRCm39) |
D270V |
possibly damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pgf |
C |
T |
12: 85,216,159 (GRCm39) |
R153K |
probably benign |
Het |
| Pramel12 |
A |
T |
4: 143,144,170 (GRCm39) |
Q172L |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,835 (GRCm39) |
V485A |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,028 (GRCm39) |
T705A |
probably damaging |
Het |
| Rflna |
A |
C |
5: 125,080,774 (GRCm39) |
D48A |
possibly damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,456 (GRCm39) |
I180N |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,475 (GRCm39) |
S94T |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,640,226 (GRCm39) |
T223I |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,436,327 (GRCm39) |
|
probably benign |
Het |
| Septin14 |
T |
C |
5: 129,774,972 (GRCm39) |
I68V |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,399,910 (GRCm39) |
L365Q |
possibly damaging |
Het |
| Sirt1 |
A |
G |
10: 63,157,515 (GRCm39) |
|
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,147,810 (GRCm39) |
|
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,336 (GRCm39) |
T355A |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,141,110 (GRCm39) |
I6074T |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,766,283 (GRCm39) |
S450P |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,505,000 (GRCm39) |
S54* |
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Uncx |
G |
T |
5: 139,529,942 (GRCm39) |
C65F |
probably damaging |
Het |
| Vmn1r87 |
A |
T |
7: 12,865,756 (GRCm39) |
M177K |
probably damaging |
Het |
| Vmn2r56 |
A |
T |
7: 12,444,235 (GRCm39) |
C466S |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,925,466 (GRCm39) |
P1831S |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,901 (GRCm39) |
S476G |
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 |
|
|
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 |
|
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'- AGAGATGCCTCTCACTTACCCACAG -3'
(R):5'- TGGACAGAGCAGGGTTTTCAGC -3'
Sequencing Primer
(F):5'- TTTCACTACACTGCCACTGG -3'
(R):5'- AGGGTTTTCAGCCCAGTCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation