Incidental Mutation 'R8963:Elapor2'
| ID |
682480 |
| 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 |
068797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9487792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 559
(N559K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069538
AA Change: N559K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: N559K
| 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 damaging
Transcript: ENSMUST00000134991
AA Change: N559K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: N559K
| 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 damaging
Transcript: ENSMUST00000155764
AA Change: N559K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: N559K
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,963 (GRCm39) |
T421A |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,317,443 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,588 (GRCm39) |
V5195E |
probably benign |
Het |
| Adora2b |
C |
T |
11: 62,139,983 (GRCm39) |
A19V |
possibly damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,477,698 (GRCm39) |
C115R |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,587,003 (GRCm39) |
L106* |
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,538 (GRCm39) |
A263V |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,120 (GRCm39) |
K125R |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,719,232 (GRCm39) |
L245* |
probably null |
Het |
| Cbll1 |
A |
T |
12: 31,538,199 (GRCm39) |
H185Q |
probably damaging |
Het |
| Ccdc150 |
A |
C |
1: 54,311,641 (GRCm39) |
N209T |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,448,416 (GRCm39) |
N1465K |
possibly damaging |
Het |
| Cfap54 |
C |
A |
10: 92,864,562 (GRCm39) |
G124* |
probably null |
Het |
| Chml |
A |
T |
1: 175,514,601 (GRCm39) |
L440H |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,122,603 (GRCm39) |
Q128L |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,498,677 (GRCm39) |
D84E |
probably benign |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,926 (GRCm39) |
I463F |
possibly damaging |
Het |
| Cyp51 |
C |
A |
5: 4,136,519 (GRCm39) |
R425L |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,992,018 (GRCm39) |
T279A |
unknown |
Het |
| Ebf2 |
G |
T |
14: 67,665,554 (GRCm39) |
V571F |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,063,776 (GRCm39) |
I275N |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,505 (GRCm39) |
Q116R |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,829,805 (GRCm39) |
D580V |
probably benign |
Het |
| Gatad1 |
A |
C |
5: 3,691,544 (GRCm39) |
L4R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,727,153 (GRCm39) |
M670K |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,774,885 (GRCm39) |
F171I |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 136,021,007 (GRCm39) |
V98A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,407 (GRCm39) |
V2735E |
probably damaging |
Het |
| Hrct1 |
A |
T |
4: 43,727,564 (GRCm39) |
|
probably benign |
Het |
| Ighv1-11 |
C |
T |
12: 114,575,864 (GRCm39) |
R117K |
probably damaging |
Het |
| Igkv12-46 |
A |
T |
6: 69,741,754 (GRCm39) |
S34T |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,767,711 (GRCm39) |
N71Y |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 90,067,649 (GRCm39) |
H201N |
probably benign |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,864 (GRCm39) |
R64Q |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,809,519 (GRCm39) |
L13S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,743,714 (GRCm39) |
R1270Q |
probably benign |
Het |
| Klhdc2 |
A |
T |
12: 69,347,065 (GRCm39) |
R77* |
probably null |
Het |
| Klra10 |
A |
T |
6: 130,249,617 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
T |
8: 73,542,612 (GRCm39) |
I704N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,888,196 (GRCm39) |
H2241Y |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,255,001 (GRCm39) |
M212L |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,690,348 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
A |
T |
1: 40,039,740 (GRCm39) |
Q44L |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Me1 |
A |
T |
9: 86,480,844 (GRCm39) |
F354I |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,108,658 (GRCm39) |
V281A |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,385,288 (GRCm39) |
T240A |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,428,471 (GRCm39) |
V203A |
probably damaging |
Het |
| Or12e8 |
T |
A |
2: 87,187,950 (GRCm39) |
I54K |
possibly damaging |
Het |
| Or4g17 |
A |
T |
2: 111,209,645 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4n5 |
A |
T |
14: 50,132,509 (GRCm39) |
M250K |
probably benign |
Het |
| Or8g2 |
A |
G |
9: 39,821,495 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,004,995 (GRCm39) |
F124L |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,131,750 (GRCm39) |
D273V |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,949,506 (GRCm39) |
S760* |
probably null |
Het |
| Polr1b |
A |
G |
2: 128,957,576 (GRCm39) |
T544A |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,771,513 (GRCm39) |
D153G |
probably damaging |
Het |
| Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
| Rad51ap2 |
A |
C |
12: 11,506,255 (GRCm39) |
E59A |
possibly damaging |
Het |
| Rrm1 |
A |
T |
7: 102,105,739 (GRCm39) |
Y285F |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,667,015 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,905,001 (GRCm39) |
V30A |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,462,378 (GRCm39) |
V7A |
probably benign |
Het |
| Ska1 |
C |
T |
18: 74,330,639 (GRCm39) |
V188M |
probably damaging |
Het |
| Skint8 |
G |
A |
4: 111,794,241 (GRCm39) |
M210I |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,202,782 (GRCm39) |
|
probably null |
Het |
| Slc6a2 |
A |
T |
8: 93,715,702 (GRCm39) |
H280L |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,873,744 (GRCm39) |
V208A |
possibly damaging |
Het |
| Taf6l |
T |
A |
19: 8,752,135 (GRCm39) |
T518S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,652 (GRCm39) |
V58A |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,266 (GRCm39) |
M59T |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,769,361 (GRCm39) |
T282A |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,590,229 (GRCm39) |
K260E |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,926 (GRCm39) |
V631A |
probably damaging |
Het |
| Zfp938 |
A |
T |
10: 82,061,287 (GRCm39) |
F444L |
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 |
|
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 |
|
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'- GTCTCAAACATACAGATACATGGG -3'
(R):5'- ATGCTGTATATGGGGCGCAG -3'
Sequencing Primer
(F):5'- GGATTTCTTTCACATTTTGTTGACAG -3'
(R):5'- CAGGATGCTTCTGGGTACAACTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation