Incidental Mutation 'R9742:Lrrc27'
| ID |
731875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc27
|
| Ensembl Gene |
ENSMUSG00000015980 |
| Gene Name |
leucine rich repeat containing 27 |
| Synonyms |
2310044E02Rik, 1700071K18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R9742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
138792904-138822895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138806229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 298
(A298V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016124]
[ENSMUST00000106104]
[ENSMUST00000135509]
|
| AlphaFold |
Q80YS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016124
AA Change: A298V
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: A298V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
LRR_TYP
|
75 |
98 |
1.03e-2 |
SMART |
|
LRR_TYP
|
99 |
122 |
3.69e-4 |
SMART |
|
LRR
|
123 |
145 |
7.38e1 |
SMART |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106104
AA Change: A298V
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: A298V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
LRR_TYP
|
75 |
98 |
1.03e-2 |
SMART |
|
LRR_TYP
|
99 |
122 |
3.69e-4 |
SMART |
|
LRR
|
123 |
145 |
7.38e1 |
SMART |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135509
|
| SMART Domains |
Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
| Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
| Actrt3 |
T |
C |
3: 30,652,434 (GRCm39) |
Y220C |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
| Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
| Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
| Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
| Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
| Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
| Lsr |
CTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTC |
7: 30,657,492 (GRCm39) |
|
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
| Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
| Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
| Xrra1 |
A |
G |
7: 99,563,660 (GRCm39) |
D549G |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,806 (GRCm39) |
E725G |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
probably benign |
Het |
|
| Other mutations in Lrrc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01668:Lrrc27
|
APN |
7 |
138,807,827 (GRCm39) |
intron |
probably benign |
|
|
IGL02095:Lrrc27
|
APN |
7 |
138,810,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02489:Lrrc27
|
APN |
7 |
138,805,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03080:Lrrc27
|
APN |
7 |
138,810,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0372:Lrrc27
|
UTSW |
7 |
138,806,103 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1466:Lrrc27
|
UTSW |
7 |
138,810,224 (GRCm39) |
unclassified |
probably benign |
|
|
R2401:Lrrc27
|
UTSW |
7 |
138,803,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Lrrc27
|
UTSW |
7 |
138,808,600 (GRCm39) |
intron |
probably benign |
|
|
R3113:Lrrc27
|
UTSW |
7 |
138,798,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Lrrc27
|
UTSW |
7 |
138,803,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Lrrc27
|
UTSW |
7 |
138,822,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4784:Lrrc27
|
UTSW |
7 |
138,822,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5070:Lrrc27
|
UTSW |
7 |
138,794,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5855:Lrrc27
|
UTSW |
7 |
138,798,251 (GRCm39) |
unclassified |
probably benign |
|
|
R6408:Lrrc27
|
UTSW |
7 |
138,798,184 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6993:Lrrc27
|
UTSW |
7 |
138,822,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7332:Lrrc27
|
UTSW |
7 |
138,822,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Lrrc27
|
UTSW |
7 |
138,806,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7460:Lrrc27
|
UTSW |
7 |
138,803,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Lrrc27
|
UTSW |
7 |
138,794,748 (GRCm39) |
missense |
probably benign |
|
|
R8020:Lrrc27
|
UTSW |
7 |
138,816,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Lrrc27
|
UTSW |
7 |
138,816,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8518:Lrrc27
|
UTSW |
7 |
138,808,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8728:Lrrc27
|
UTSW |
7 |
138,822,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Lrrc27
|
UTSW |
7 |
138,796,515 (GRCm39) |
unclassified |
probably benign |
|
|
R9141:Lrrc27
|
UTSW |
7 |
138,807,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9355:Lrrc27
|
UTSW |
7 |
138,822,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9387:Lrrc27
|
UTSW |
7 |
138,807,837 (GRCm39) |
nonsense |
probably null |
|
|
R9627:Lrrc27
|
UTSW |
7 |
138,808,582 (GRCm39) |
intron |
probably benign |
|
|
R9779:Lrrc27
|
UTSW |
7 |
138,816,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9800:Lrrc27
|
UTSW |
7 |
138,807,913 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF018:Lrrc27
|
UTSW |
7 |
138,806,016 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Lrrc27
|
UTSW |
7 |
138,810,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Lrrc27
|
UTSW |
7 |
138,810,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Lrrc27
|
UTSW |
7 |
138,822,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTATGGAAAGGCTAGACC -3'
(R):5'- TGTGTTCAGTGACACTGGTC -3'
Sequencing Primer
(F):5'- CTGAGTGAGCTCCGCAAATC -3'
(R):5'- ACTATGGCTTGGTCCGATATAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation