Incidental Mutation 'R9140:Elapor2'
| ID |
694276 |
| 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 |
068972-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9140 (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 9449226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 118
(V118A)
|
| 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: V118A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: V118A
| 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: V118A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
AA Change: V118A
| 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: V118A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: V118A
| 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 damaging
Transcript: ENSMUST00000154662
AA Change: V118A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
AA Change: V118A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155764
AA Change: V118A
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: V118A
| 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 |
0.0740 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,170 (GRCm39) |
I77F |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,216,263 (GRCm39) |
R1509* |
probably null |
Het |
| Ago1 |
C |
A |
4: 126,336,977 (GRCm39) |
V547L |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,886,025 (GRCm39) |
Y394F |
probably damaging |
Het |
| C1qa |
A |
C |
4: 136,623,553 (GRCm39) |
I217S |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,525,224 (GRCm39) |
I1651F |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,183,270 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,723 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,791,157 (GRCm39) |
V320M |
probably damaging |
Het |
| Chrnb4 |
G |
A |
9: 54,941,955 (GRCm39) |
H440Y |
|
Het |
| Cic |
T |
C |
7: 24,985,165 (GRCm39) |
V1137A |
probably damaging |
Het |
| Ctdp1 |
C |
T |
18: 80,484,043 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Ddhd1 |
A |
C |
14: 45,894,918 (GRCm39) |
L184R |
probably benign |
Het |
| Dnttip1 |
A |
G |
2: 164,596,082 (GRCm39) |
D109G |
possibly damaging |
Het |
| Dsc3 |
T |
A |
18: 20,122,616 (GRCm39) |
M103L |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,608,977 (GRCm39) |
L439S |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,428,411 (GRCm39) |
N311S |
possibly damaging |
Het |
| Fam151a |
C |
T |
4: 106,605,344 (GRCm39) |
R569* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,460,047 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,576,077 (GRCm39) |
T93A |
unknown |
Het |
| Fosl2 |
T |
C |
5: 32,310,042 (GRCm39) |
S164P |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,173,673 (GRCm39) |
T630A |
probably null |
Het |
| Gm5916 |
G |
T |
9: 36,031,982 (GRCm39) |
Q101K |
unknown |
Het |
| Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,307,934 (GRCm39) |
K474R |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,114 (GRCm39) |
F153L |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,924,596 (GRCm39) |
A268V |
probably benign |
Het |
| Kprp |
G |
T |
3: 92,732,458 (GRCm39) |
Y197* |
probably null |
Het |
| Kri1 |
C |
T |
9: 21,187,434 (GRCm39) |
R471H |
|
Het |
| Krt17 |
C |
A |
11: 100,148,476 (GRCm39) |
A322S |
possibly damaging |
Het |
| Leng9 |
A |
T |
7: 4,152,657 (GRCm39) |
D6E |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,367,855 (GRCm39) |
I2302K |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,191,490 (GRCm39) |
V17M |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,006,826 (GRCm39) |
K582E |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,507,427 (GRCm39) |
V102A |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,100,089 (GRCm39) |
G636D |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,322 (GRCm39) |
N280S |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,790,789 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,514,678 (GRCm39) |
*177R |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,455 (GRCm39) |
K959R |
probably benign |
Het |
| Plat |
A |
G |
8: 23,270,562 (GRCm39) |
D493G |
probably damaging |
Het |
| Prr30 |
A |
G |
14: 101,436,430 (GRCm39) |
L44P |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,344,180 (GRCm39) |
C477R |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,622,625 (GRCm39) |
S82G |
probably benign |
Het |
| Pygo1 |
A |
G |
9: 72,852,988 (GRCm39) |
T392A |
probably benign |
Het |
| Rad54b |
C |
A |
4: 11,610,386 (GRCm39) |
L668I |
probably damaging |
Het |
| Rdh19 |
A |
C |
10: 127,692,830 (GRCm39) |
M166L |
|
Het |
| Retnlg |
C |
A |
16: 48,693,288 (GRCm39) |
Q22K |
possibly damaging |
Het |
| Rfc3 |
G |
T |
5: 151,568,141 (GRCm39) |
T249K |
probably benign |
Het |
| Rgs16 |
T |
A |
1: 153,619,381 (GRCm39) |
V129E |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,303,445 (GRCm39) |
Y259* |
probably null |
Het |
| Sema6a |
T |
C |
18: 47,415,009 (GRCm39) |
N427S |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,487 (GRCm39) |
I229T |
possibly damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,792 (GRCm39) |
Y327N |
probably benign |
Het |
| Smtnl2 |
A |
G |
11: 72,290,793 (GRCm39) |
L384P |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,864,449 (GRCm39) |
V117F |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,216,177 (GRCm39) |
V126A |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,638,441 (GRCm39) |
T430I |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,482 (GRCm39) |
I242V |
probably damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,768,635 (GRCm39) |
V8E |
|
Het |
| Ttn |
A |
G |
2: 76,774,240 (GRCm39) |
V2268A |
unknown |
Het |
| Uspl1 |
G |
T |
5: 149,150,290 (GRCm39) |
A497S |
possibly damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,465 (GRCm39) |
N374Y |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,207 (GRCm39) |
F641S |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,643 (GRCm39) |
Y832F |
probably damaging |
Het |
| Zfp748 |
C |
T |
13: 67,689,073 (GRCm39) |
C729Y |
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 |
|
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'- TCCAACATCCCTGGGAAGAC -3'
(R):5'- AAAGGTTCCTTTGGGGTCTTAC -3'
Sequencing Primer
(F):5'- CATCCCTGGGAAGACAAGAG -3'
(R):5'- GGGGTCTTACTTGTTACAGCCATC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation