Incidental Mutation 'R9244:Elapor2'
| ID |
701143 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9460700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069165
(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: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Y207C
| 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 damaging
Transcript: ENSMUST00000115348
AA Change: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
AA Change: Y207C
| 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: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Y207C
| 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: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: Y207C
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,577 (GRCm39) |
I1147V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,370,679 (GRCm39) |
T653A |
probably benign |
Het |
| App |
A |
G |
16: 84,759,629 (GRCm39) |
I656T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,879 (GRCm39) |
I574N |
possibly damaging |
Het |
| Cdc42 |
T |
C |
4: 137,056,391 (GRCm39) |
T75A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,249,442 (GRCm39) |
K822N |
possibly damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,594 (GRCm39) |
L444I |
unknown |
Het |
| Ctnnbl1 |
G |
T |
2: 157,678,583 (GRCm39) |
K395N |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,316 (GRCm39) |
I1808K |
probably benign |
Het |
| Dnajb8 |
C |
A |
6: 88,199,884 (GRCm39) |
P140Q |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 67,996,563 (GRCm39) |
R1727W |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,486,429 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Eaf1 |
T |
C |
14: 31,219,766 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,654,689 (GRCm39) |
D663G |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,265,441 (GRCm39) |
V451A |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Esco2 |
A |
G |
14: 66,059,088 (GRCm39) |
W530R |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,248,922 (GRCm39) |
I1367T |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,348,862 (GRCm39) |
|
probably benign |
Het |
| Get1 |
A |
G |
16: 95,955,383 (GRCm39) |
T147A |
probably benign |
Het |
| Gm42669 |
A |
G |
5: 107,656,370 (GRCm39) |
T295A |
possibly damaging |
Het |
| Harbi1 |
A |
G |
2: 91,543,040 (GRCm39) |
N167S |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,022,766 (GRCm39) |
N945K |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,561,084 (GRCm39) |
|
probably null |
Het |
| Htr1f |
G |
T |
16: 64,746,857 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2bp2 |
A |
C |
16: 21,886,901 (GRCm39) |
S453A |
possibly damaging |
Het |
| Ipo4 |
A |
T |
14: 55,871,799 (GRCm39) |
W116R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,015,040 (GRCm39) |
H917R |
probably benign |
Het |
| Klrb1b |
A |
T |
6: 128,792,245 (GRCm39) |
C189* |
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,058 (GRCm39) |
Y41C |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,865,237 (GRCm39) |
S101P |
probably damaging |
Het |
| Mcmdc2 |
C |
T |
1: 9,985,835 (GRCm39) |
T127I |
probably damaging |
Het |
| Mtch1 |
C |
A |
17: 29,566,626 (GRCm39) |
A46S |
unknown |
Het |
| Ndufb5 |
C |
A |
3: 32,795,906 (GRCm39) |
Q33K |
probably null |
Het |
| Nufip2 |
T |
C |
11: 77,583,475 (GRCm39) |
V463A |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,537 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,852 (GRCm39) |
I33T |
probably benign |
Het |
| Or6d12 |
G |
A |
6: 116,492,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or8j3c |
A |
T |
2: 86,253,423 (GRCm39) |
V199E |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,226 (GRCm39) |
D472G |
unknown |
Het |
| Ppip5k1 |
A |
C |
2: 121,164,932 (GRCm39) |
S972A |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,534,982 (GRCm39) |
M86L |
probably benign |
Het |
| Prorsd1 |
T |
C |
11: 29,463,271 (GRCm39) |
I164V |
probably benign |
Het |
| Ptgs1 |
A |
G |
2: 36,130,724 (GRCm39) |
T208A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,120,151 (GRCm39) |
R2834G |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,497,589 (GRCm39) |
Y373* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,524 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,249 (GRCm39) |
S591P |
probably damaging |
Het |
| Stat2 |
A |
G |
10: 128,118,634 (GRCm39) |
E389G |
possibly damaging |
Het |
| Trav14n-3 |
C |
A |
14: 53,608,004 (GRCm39) |
D111E |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,533,370 (GRCm39) |
S873G |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,012,089 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,589 (GRCm39) |
I273F |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,189 (GRCm39) |
M714K |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,839,919 (GRCm39) |
T113A |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,585,640 (GRCm39) |
L696R |
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 |
|
|
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 |
|
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'- TTGGCCCACGGGATCTATTC -3'
(R):5'- ACCATCAGAGGAGGCTTTCTTTTAAC -3'
Sequencing Primer
(F):5'- CCTGATTAAATCACTTGGTTGGAG -3'
(R):5'- TAACATTGAAAGATGCAGTCAACAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation