Incidental Mutation 'R1871:Elapor2'
| ID |
210725 |
| 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 |
039893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1871 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9468007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069538
AA Change: E225G
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: E225G
| 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 |
possibly damaging
Transcript: ENSMUST00000134991
AA Change: E225G
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: E225G
| 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 |
noncoding transcript
Transcript: ENSMUST00000142202
|
| 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 |
unknown
Transcript: ENSMUST00000154662
AA Change: R214G
|
| SMART Domains |
Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
AA Change: R214G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155764
AA Change: E225G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: E225G
| 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 |
|
| Meta Mutation Damage Score |
0.1721 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| Validation Efficiency |
97% (87/90) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,415,699 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
| Abce1 |
G |
A |
8: 80,411,897 (GRCm39) |
Q588* |
probably null |
Het |
| Acads |
A |
T |
5: 115,255,701 (GRCm39) |
C45S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,828,889 (GRCm39) |
I517F |
probably damaging |
Het |
| Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
| Blk |
A |
T |
14: 63,613,364 (GRCm39) |
S381R |
possibly damaging |
Het |
| Capn15 |
C |
A |
17: 26,183,203 (GRCm39) |
W426L |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,176 (GRCm39) |
T999A |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Crp |
T |
A |
1: 172,526,172 (GRCm39) |
W86R |
possibly damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,812,534 (GRCm39) |
L705F |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,853,639 (GRCm39) |
D441G |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
| Eef1g |
A |
T |
19: 8,955,330 (GRCm39) |
D393V |
possibly damaging |
Het |
| Ephx2 |
A |
T |
14: 66,322,183 (GRCm39) |
I538N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,221 (GRCm39) |
S2958T |
possibly damaging |
Het |
| Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
| Gm10287 |
G |
T |
3: 148,930,373 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,674,498 (GRCm39) |
D460G |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,820,426 (GRCm39) |
D641G |
probably damaging |
Het |
| Heph |
C |
A |
X: 95,542,690 (GRCm39) |
S561Y |
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,200,257 (GRCm39) |
*90W |
probably null |
Het |
| Hp1bp3 |
C |
G |
4: 137,949,497 (GRCm39) |
P65R |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,221 (GRCm39) |
Y58F |
probably benign |
Het |
| Jrk |
T |
C |
15: 74,578,412 (GRCm39) |
D291G |
possibly damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,679 (GRCm39) |
Y60H |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,291 (GRCm39) |
Y203H |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,775,793 (GRCm39) |
V255D |
possibly damaging |
Het |
| Krt9 |
C |
T |
11: 100,081,614 (GRCm39) |
R305H |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,860,490 (GRCm39) |
N2999T |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,488,328 (GRCm39) |
L106Q |
probably damaging |
Het |
| Llph |
A |
T |
10: 120,067,141 (GRCm39) |
N86I |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,826,297 (GRCm39) |
N1601K |
probably benign |
Het |
| Mc1r |
T |
A |
8: 124,134,275 (GRCm39) |
S9R |
probably benign |
Het |
| Mfsd14a |
A |
G |
3: 116,434,969 (GRCm39) |
I249T |
probably benign |
Het |
| Mtfp1 |
G |
A |
11: 4,044,012 (GRCm39) |
R73C |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,540 (GRCm39) |
Q877R |
probably benign |
Het |
| Nalcn |
A |
C |
14: 123,831,965 (GRCm39) |
V103G |
possibly damaging |
Het |
| Ndst3 |
A |
T |
3: 123,355,673 (GRCm39) |
F119I |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,655 (GRCm39) |
N294S |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,902,596 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,408 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
C |
18: 37,652,200 (GRCm39) |
T223P |
probably damaging |
Het |
| Pcdhga1 |
T |
A |
18: 37,973,143 (GRCm39) |
N907K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
| Plpp6 |
T |
C |
19: 28,941,684 (GRCm39) |
F95S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,474,374 (GRCm39) |
|
probably benign |
Het |
| Qars1 |
T |
G |
9: 108,391,315 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,328,383 (GRCm39) |
I2800V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,340,955 (GRCm39) |
V3532A |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,279,849 (GRCm39) |
S411P |
possibly damaging |
Het |
| Scn1a |
C |
A |
2: 66,148,369 (GRCm39) |
G1059W |
probably damaging |
Het |
| Sgms1 |
C |
T |
19: 32,137,282 (GRCm39) |
V95I |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
| Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
| Sorl1 |
G |
A |
9: 41,881,021 (GRCm39) |
Q2167* |
probably null |
Het |
| Stkld1 |
A |
G |
2: 26,827,985 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
C |
10: 23,967,900 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,248,472 (GRCm39) |
L1977F |
probably damaging |
Het |
| Tecta |
G |
C |
9: 42,248,636 (GRCm39) |
T1917R |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,628,544 (GRCm39) |
S1544T |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,735,523 (GRCm39) |
I717T |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,032,737 (GRCm39) |
V342E |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,856,235 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,549,876 (GRCm39) |
R711S |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,558,665 (GRCm39) |
D3631E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,642,028 (GRCm39) |
T2200A |
probably benign |
Het |
| Wif1 |
A |
G |
10: 120,920,824 (GRCm39) |
I215M |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,050 (GRCm39) |
T1134A |
probably damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,235 (GRCm39) |
V367A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,412 (GRCm39) |
K119* |
probably null |
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 |
|
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 |
|
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'- ACATGCAGTTGTAGTGTCGTC -3'
(R):5'- AACCGCAAAGGCAGTTTCTTC -3'
Sequencing Primer
(F):5'- CATGCAGTTGTAGTGTCGTCTTCAG -3'
(R):5'- CGCAAAGGCAGTTTCTTCACTAAATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation