Incidental Mutation 'R8246:Elapor2'
ID |
640754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elapor2
|
Ensembl Gene |
ENSMUSG00000056004 |
Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
Synonyms |
9330182L06Rik |
MMRRC Submission |
067852-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9496966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 810
(V810A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
AlphaFold |
Q3UZV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069538
AA Change: V810A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000069165 Gene: ENSMUSG00000056004 AA Change: V810A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
internal_repeat_1
|
58 |
334 |
1.12e-7 |
PROSPERO |
internal_repeat_1
|
343 |
665 |
1.12e-7 |
PROSPERO |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115348
|
SMART Domains |
Protein: ENSMUSP00000111005 Gene: ENSMUSG00000056004
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134991
AA Change: V810A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121757 Gene: ENSMUSG00000056004 AA Change: V810A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
internal_repeat_1
|
58 |
334 |
9.82e-8 |
PROSPERO |
internal_repeat_1
|
343 |
665 |
9.82e-8 |
PROSPERO |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152095
|
SMART Domains |
Protein: ENSMUSP00000116440 Gene: ENSMUSG00000056004
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154662
|
SMART Domains |
Protein: ENSMUSP00000116026 Gene: ENSMUSG00000056004
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155764
|
SMART Domains |
Protein: ENSMUSP00000120849 Gene: ENSMUSG00000056004
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
internal_repeat_1
|
58 |
180 |
5.47e-6 |
PROSPERO |
internal_repeat_1
|
343 |
476 |
5.47e-6 |
PROSPERO |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
C |
A |
7: 80,742,524 (GRCm39) |
D780E |
probably benign |
Het |
Anln |
A |
C |
9: 22,262,251 (GRCm39) |
S947A |
probably benign |
Het |
Borcs6 |
C |
T |
11: 68,951,377 (GRCm39) |
P252S |
probably benign |
Het |
Ccdc42 |
C |
A |
11: 68,478,122 (GRCm39) |
Q28K |
probably benign |
Het |
Cp |
A |
G |
3: 20,029,186 (GRCm39) |
I554M |
probably damaging |
Het |
Dnm3 |
T |
G |
1: 162,135,486 (GRCm39) |
D429A |
probably damaging |
Het |
Dok5 |
A |
G |
2: 170,642,813 (GRCm39) |
K37R |
probably benign |
Het |
Dtwd2 |
A |
T |
18: 49,831,492 (GRCm39) |
Y268N |
probably benign |
Het |
Eif3a |
T |
C |
19: 60,767,806 (GRCm39) |
E244G |
probably damaging |
Het |
Fam149a |
T |
C |
8: 45,834,655 (GRCm39) |
E48G |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,838,428 (GRCm39) |
E2605D |
unknown |
Het |
Fhip1b |
T |
C |
7: 105,038,867 (GRCm39) |
E124G |
probably damaging |
Het |
Fyn |
T |
A |
10: 39,405,525 (GRCm39) |
W264R |
probably damaging |
Het |
Gm10024 |
T |
A |
10: 77,547,369 (GRCm39) |
S27T |
unknown |
Het |
Gpr157 |
C |
T |
4: 150,186,753 (GRCm39) |
L294F |
possibly damaging |
Het |
Kif6 |
C |
T |
17: 50,065,542 (GRCm39) |
Q506* |
probably null |
Het |
Klrh1 |
A |
G |
6: 129,752,339 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,451,242 (GRCm39) |
K707R |
possibly damaging |
Het |
Mcub |
C |
A |
3: 129,708,814 (GRCm39) |
V328L |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,657,284 (GRCm39) |
P12S |
probably benign |
Het |
Mrgprb3 |
T |
G |
7: 48,293,268 (GRCm39) |
L94F |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,392,640 (GRCm39) |
P3307Q |
probably damaging |
Het |
Nol8 |
T |
G |
13: 49,808,724 (GRCm39) |
|
probably benign |
Het |
Or11g2 |
A |
G |
14: 50,855,841 (GRCm39) |
Y54C |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,790,483 (GRCm39) |
I312V |
probably benign |
Het |
Pax5 |
T |
C |
4: 44,570,027 (GRCm39) |
H286R |
probably benign |
Het |
Rmdn2 |
T |
A |
17: 79,979,966 (GRCm39) |
C381* |
probably null |
Het |
Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
Shank3 |
A |
T |
15: 89,417,549 (GRCm39) |
R49W |
possibly damaging |
Het |
Smurf2 |
T |
C |
11: 106,721,870 (GRCm39) |
T542A |
probably benign |
Het |
Sorcs2 |
G |
A |
5: 36,219,932 (GRCm39) |
R371C |
probably damaging |
Het |
Sqstm1 |
T |
C |
11: 50,101,388 (GRCm39) |
H66R |
probably damaging |
Het |
Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,091,889 (GRCm39) |
V1582D |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,427,156 (GRCm39) |
M331V |
probably damaging |
Het |
Tinf2 |
T |
C |
14: 55,917,042 (GRCm39) |
S368G |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,336,814 (GRCm39) |
I14N |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Ulk4 |
T |
C |
9: 120,985,941 (GRCm39) |
*911W |
probably null |
Het |
Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
Vps16 |
G |
C |
2: 130,280,793 (GRCm39) |
G241R |
probably damaging |
Het |
Ythdc1 |
C |
T |
5: 86,965,181 (GRCm39) |
T292I |
possibly damaging |
Het |
|
Other mutations in Elapor2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Elapor2
|
APN |
5 |
9,472,367 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00909:Elapor2
|
APN |
5 |
9,430,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01477:Elapor2
|
APN |
5 |
9,487,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02486:Elapor2
|
APN |
5 |
9,472,323 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02863:Elapor2
|
APN |
5 |
9,511,399 (GRCm39) |
nonsense |
probably null |
|
IGL02939:Elapor2
|
APN |
5 |
9,511,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Elapor2
|
APN |
5 |
9,468,055 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03395:Elapor2
|
APN |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
R0193:Elapor2
|
UTSW |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
R0265:Elapor2
|
UTSW |
5 |
9,484,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Elapor2
|
UTSW |
5 |
9,495,367 (GRCm39) |
missense |
probably benign |
0.00 |
R0432:Elapor2
|
UTSW |
5 |
9,490,966 (GRCm39) |
nonsense |
probably null |
|
R0494:Elapor2
|
UTSW |
5 |
9,470,723 (GRCm39) |
critical splice donor site |
probably null |
|
R0736:Elapor2
|
UTSW |
5 |
9,491,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R0850:Elapor2
|
UTSW |
5 |
9,467,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Elapor2
|
UTSW |
5 |
9,430,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1709:Elapor2
|
UTSW |
5 |
9,490,726 (GRCm39) |
nonsense |
probably null |
|
R1720:Elapor2
|
UTSW |
5 |
9,478,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Elapor2
|
UTSW |
5 |
9,468,021 (GRCm39) |
missense |
probably benign |
0.01 |
R1782:Elapor2
|
UTSW |
5 |
9,471,620 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1803:Elapor2
|
UTSW |
5 |
9,477,832 (GRCm39) |
missense |
probably benign |
0.05 |
R1868:Elapor2
|
UTSW |
5 |
9,529,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R1871:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R1913:Elapor2
|
UTSW |
5 |
9,316,275 (GRCm39) |
missense |
probably damaging |
0.97 |
R2054:Elapor2
|
UTSW |
5 |
9,513,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2170:Elapor2
|
UTSW |
5 |
9,529,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R2381:Elapor2
|
UTSW |
5 |
9,430,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2396:Elapor2
|
UTSW |
5 |
9,485,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4003:Elapor2
|
UTSW |
5 |
9,490,877 (GRCm39) |
missense |
probably benign |
0.05 |
R5030:Elapor2
|
UTSW |
5 |
9,478,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5049:Elapor2
|
UTSW |
5 |
9,478,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5069:Elapor2
|
UTSW |
5 |
9,490,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R5219:Elapor2
|
UTSW |
5 |
9,511,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R5400:Elapor2
|
UTSW |
5 |
9,529,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5555:Elapor2
|
UTSW |
5 |
9,472,296 (GRCm39) |
splice site |
probably null |
|
R5593:Elapor2
|
UTSW |
5 |
9,316,350 (GRCm39) |
missense |
probably benign |
0.07 |
R5681:Elapor2
|
UTSW |
5 |
9,509,308 (GRCm39) |
critical splice donor site |
probably null |
|
R5707:Elapor2
|
UTSW |
5 |
9,491,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R5756:Elapor2
|
UTSW |
5 |
9,512,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R6087:Elapor2
|
UTSW |
5 |
9,449,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R6252:Elapor2
|
UTSW |
5 |
9,460,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7067:Elapor2
|
UTSW |
5 |
9,316,295 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7078:Elapor2
|
UTSW |
5 |
9,460,709 (GRCm39) |
missense |
probably benign |
0.10 |
R7079:Elapor2
|
UTSW |
5 |
9,449,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Elapor2
|
UTSW |
5 |
9,495,384 (GRCm39) |
nonsense |
probably null |
|
R7265:Elapor2
|
UTSW |
5 |
9,496,975 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7996:Elapor2
|
UTSW |
5 |
9,512,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R8199:Elapor2
|
UTSW |
5 |
9,470,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Elapor2
|
UTSW |
5 |
9,496,979 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8935:Elapor2
|
UTSW |
5 |
9,491,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Elapor2
|
UTSW |
5 |
9,487,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R9140:Elapor2
|
UTSW |
5 |
9,449,226 (GRCm39) |
missense |
probably benign |
0.00 |
R9244:Elapor2
|
UTSW |
5 |
9,460,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Elapor2
|
UTSW |
5 |
9,460,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R9395:Elapor2
|
UTSW |
5 |
9,477,822 (GRCm39) |
missense |
probably benign |
0.19 |
R9548:Elapor2
|
UTSW |
5 |
9,490,859 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Elapor2
|
UTSW |
5 |
9,449,231 (GRCm39) |
missense |
probably damaging |
0.97 |
X0052:Elapor2
|
UTSW |
5 |
9,490,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0063:Elapor2
|
UTSW |
5 |
9,449,239 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTCTTATCTGGAATGGCTCAG -3'
(R):5'- TACAAGCTGTCATGCTAGGCAC -3'
Sequencing Primer
(F):5'- GGAATGGCTCAGTTTAATATTTCTGG -3'
(R):5'- TGTCATGCTAGGCACCCTGAAG -3'
|
Posted On |
2020-07-28 |