Incidental Mutation 'R2401:Lrrc27'
| ID |
248690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc27
|
| Ensembl Gene |
ENSMUSG00000015980 |
| Gene Name |
leucine rich repeat containing 27 |
| Synonyms |
2310044E02Rik, 1700071K18Rik |
| MMRRC Submission |
040367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2401 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138792904-138822895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 138803529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 151
(L151R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016124]
[ENSMUST00000106104]
[ENSMUST00000135509]
|
| AlphaFold |
Q80YS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016124
AA Change: L151R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: L151R
| 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 |
probably damaging
Transcript: ENSMUST00000106104
AA Change: L151R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: L151R
| 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 |
noncoding transcript
Transcript: ENSMUST00000126199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130248
|
| 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 |
|
| Meta Mutation Damage Score |
0.7108 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,882,312 (GRCm39) |
L1158P |
probably damaging |
Het |
| Acnat1 |
A |
T |
4: 49,451,077 (GRCm39) |
N11K |
possibly damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,909,056 (GRCm39) |
I217N |
possibly damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,635,473 (GRCm39) |
R54* |
probably null |
Het |
| Ccdc178 |
C |
T |
18: 22,264,471 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,372,114 (GRCm39) |
S425P |
probably benign |
Het |
| Cnmd |
A |
G |
14: 79,894,045 (GRCm39) |
V114A |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,686,941 (GRCm39) |
T651A |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,778 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
A |
T |
4: 89,579,853 (GRCm39) |
D271V |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,963,144 (GRCm39) |
|
probably null |
Het |
| Exo5 |
T |
C |
4: 120,779,194 (GRCm39) |
I224V |
probably damaging |
Het |
| Fam162b |
C |
A |
10: 51,463,314 (GRCm39) |
A118S |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,283,325 (GRCm39) |
T406A |
possibly damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,849 (GRCm39) |
N666S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,922,576 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ighv8-11 |
T |
G |
12: 115,531,223 (GRCm39) |
|
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,290,205 (GRCm39) |
T133N |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,897,389 (GRCm39) |
D1534G |
possibly damaging |
Het |
| Kcnk2 |
G |
C |
1: 189,072,214 (GRCm39) |
T38S |
possibly damaging |
Het |
| Kif16b |
C |
T |
2: 142,598,042 (GRCm39) |
V527I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,276,133 (GRCm39) |
Y1789H |
probably damaging |
Het |
| Lpl |
A |
C |
8: 69,353,895 (GRCm39) |
D412A |
possibly damaging |
Het |
| Muc17 |
T |
C |
5: 137,190,980 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,069 (GRCm39) |
Y829* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,192 (GRCm39) |
Y447C |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,790,494 (GRCm39) |
Y308C |
probably benign |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,222 (GRCm39) |
V381A |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,061,249 (GRCm39) |
W79* |
probably null |
Het |
| Skic2 |
T |
C |
17: 35,059,361 (GRCm39) |
M1029V |
probably benign |
Het |
| Stil |
A |
G |
4: 114,873,483 (GRCm39) |
R369G |
probably null |
Het |
| Ttc41 |
T |
C |
10: 86,560,238 (GRCm39) |
I387T |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,187 (GRCm39) |
L1262P |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,819,445 (GRCm39) |
H1206R |
probably damaging |
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 |
|
|
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 |
|
|
R9742:Lrrc27
|
UTSW |
7 |
138,806,229 (GRCm39) |
missense |
probably benign |
0.39 |
|
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'- ACAACTGTCAATTCTCATTACCCA -3'
(R):5'- CCCTACAGAAGCTGGGGAAG -3'
Sequencing Primer
(F):5'- GAGCCAGTCTTTTGTAGCCCAAG -3'
(R):5'- CTGGGGAAGCCACACAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation