Incidental Mutation 'R5593:Elapor2'
ID |
486839 |
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 |
043145-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5593 (G1)
|
Quality Score |
27 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9316350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 27
(L27Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116440
(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: L27Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000069165 Gene: ENSMUSG00000056004 AA Change: L27Q
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
AA Change: L27Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000111005 Gene: ENSMUSG00000056004 AA Change: L27Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134991
AA Change: L27Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000121757 Gene: ENSMUSG00000056004 AA Change: L27Q
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
AA Change: L27Q
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000116440 Gene: ENSMUSG00000056004 AA Change: L27Q
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154662
AA Change: L27Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000116026 Gene: ENSMUSG00000056004 AA Change: L27Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155764
AA Change: L27Q
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000120849 Gene: ENSMUSG00000056004 AA Change: L27Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163076
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
Anpep |
T |
G |
7: 79,491,794 (GRCm39) |
K69T |
probably benign |
Het |
Appbp2 |
A |
T |
11: 85,085,409 (GRCm39) |
I499K |
possibly damaging |
Het |
Copb2 |
A |
G |
9: 98,469,091 (GRCm39) |
|
probably null |
Het |
Cpa5 |
T |
C |
6: 30,630,848 (GRCm39) |
I370T |
probably benign |
Het |
Cpn2 |
T |
C |
16: 30,078,898 (GRCm39) |
T268A |
probably benign |
Het |
Ctbp2 |
C |
A |
7: 132,600,598 (GRCm39) |
R99I |
possibly damaging |
Het |
Cul1 |
G |
A |
6: 47,462,020 (GRCm39) |
W196* |
probably null |
Het |
Cul1 |
T |
C |
6: 47,491,925 (GRCm39) |
F402L |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Dyrk1a |
C |
A |
16: 94,460,442 (GRCm39) |
Q33K |
possibly damaging |
Het |
Epg5 |
T |
A |
18: 78,000,689 (GRCm39) |
S542T |
probably damaging |
Het |
Eps8l3 |
A |
T |
3: 107,798,504 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,544,321 (GRCm39) |
H690R |
probably damaging |
Het |
Fam227a |
G |
A |
15: 79,524,259 (GRCm39) |
|
probably benign |
Het |
Gadl1 |
G |
T |
9: 115,835,718 (GRCm39) |
G382V |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,260,963 (GRCm39) |
Q1176R |
possibly damaging |
Het |
Gdf9 |
A |
T |
11: 53,324,558 (GRCm39) |
H109L |
probably damaging |
Het |
Gsdmd |
T |
A |
15: 75,738,856 (GRCm39) |
V411D |
probably damaging |
Het |
Hdc |
T |
C |
2: 126,460,504 (GRCm39) |
|
probably benign |
Het |
Ifrd2 |
A |
G |
9: 107,467,374 (GRCm39) |
D82G |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,161,661 (GRCm39) |
S596P |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,546,096 (GRCm39) |
V8A |
possibly damaging |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,393 (GRCm39) |
T229I |
probably damaging |
Het |
Medag |
T |
A |
5: 149,350,415 (GRCm39) |
F21L |
probably benign |
Het |
Mefv |
A |
T |
16: 3,533,315 (GRCm39) |
C319S |
probably benign |
Het |
Mettl23 |
T |
A |
11: 116,734,593 (GRCm39) |
V54D |
probably damaging |
Het |
Mul1 |
A |
G |
4: 138,166,543 (GRCm39) |
D199G |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,260,130 (GRCm39) |
I266N |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,980,544 (GRCm38) |
K967* |
probably null |
Het |
Nrcam |
A |
G |
12: 44,606,483 (GRCm39) |
T410A |
probably damaging |
Het |
Or1p1 |
A |
G |
11: 74,179,618 (GRCm39) |
I49V |
possibly damaging |
Het |
Or2b11 |
T |
C |
11: 59,461,874 (GRCm39) |
R231G |
possibly damaging |
Het |
Or52d13 |
C |
T |
7: 103,109,592 (GRCm39) |
|
silent |
Het |
Or52e4 |
T |
C |
7: 104,705,711 (GRCm39) |
I86T |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,778 (GRCm39) |
D24V |
possibly damaging |
Het |
Plcb3 |
T |
C |
19: 6,932,117 (GRCm39) |
I1124V |
possibly damaging |
Het |
Ptprc |
A |
T |
1: 138,045,458 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,257,378 (GRCm39) |
|
probably benign |
Het |
Rnf208 |
G |
T |
2: 25,133,345 (GRCm39) |
W13L |
possibly damaging |
Het |
Rps6kl1 |
G |
T |
12: 85,193,675 (GRCm39) |
Q139K |
possibly damaging |
Het |
Sdk1 |
T |
A |
5: 141,941,879 (GRCm39) |
I509N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,898,098 (GRCm39) |
I170V |
probably benign |
Het |
Slc17a8 |
C |
T |
10: 89,442,702 (GRCm39) |
D44N |
probably benign |
Het |
Slc23a1 |
T |
A |
18: 35,755,349 (GRCm39) |
I489F |
probably damaging |
Het |
Slc25a19 |
A |
T |
11: 115,507,418 (GRCm39) |
Y235N |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,233,486 (GRCm39) |
V40A |
probably benign |
Het |
Slurp2 |
C |
T |
15: 74,614,917 (GRCm39) |
V75I |
probably benign |
Het |
Smc1b |
A |
C |
15: 85,005,842 (GRCm39) |
M354R |
probably benign |
Het |
Spice1 |
C |
A |
16: 44,191,115 (GRCm39) |
A323E |
possibly damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,975 (GRCm39) |
V2015E |
probably damaging |
Het |
Sptlc2 |
A |
C |
12: 87,415,857 (GRCm39) |
F57V |
probably benign |
Het |
Srsf1 |
A |
G |
11: 87,938,705 (GRCm39) |
N14S |
possibly damaging |
Het |
Ssh2 |
T |
A |
11: 77,312,192 (GRCm39) |
D228E |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,088,390 (GRCm39) |
*1480W |
probably null |
Het |
Syt14 |
A |
T |
1: 192,613,231 (GRCm39) |
M523K |
probably damaging |
Het |
Tff3 |
A |
T |
17: 31,348,516 (GRCm39) |
V12E |
probably benign |
Het |
Tgm2 |
C |
A |
2: 157,969,262 (GRCm39) |
C371F |
probably damaging |
Het |
Tmem260 |
A |
C |
14: 48,711,501 (GRCm39) |
I197L |
probably benign |
Het |
Unc5a |
A |
G |
13: 55,152,747 (GRCm39) |
D887G |
possibly damaging |
Het |
Vstm4 |
G |
T |
14: 32,641,247 (GRCm39) |
A277S |
probably benign |
Het |
Wdtc1 |
A |
T |
4: 133,021,702 (GRCm39) |
|
probably null |
Het |
Zan |
A |
G |
5: 137,466,600 (GRCm39) |
F419S |
possibly damaging |
Het |
Zfp317 |
G |
A |
9: 19,558,584 (GRCm39) |
R266Q |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,595 (GRCm39) |
T264S |
possibly damaging |
Het |
Zpld2 |
T |
C |
4: 133,920,350 (GRCm39) |
K605R |
probably 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 |
|
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 |
R8246:Elapor2
|
UTSW |
5 |
9,496,966 (GRCm39) |
missense |
probably benign |
0.07 |
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'- AGATCAGCCCAGTTGAGCTG -3'
(R):5'- TTCATCCCTGGGCAAAACGAAC -3'
Sequencing Primer
(F):5'- TTGAGCTGAGCCCAGAGG -3'
(R):5'- TGATGGTCACTCTGAGCCCAG -3'
|
Posted On |
2017-08-23 |