Incidental Mutation 'R7265:Elapor2'
ID |
564859 |
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 |
045355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7265 (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 C
at 9496975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 813
(V813A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069165
(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: V813A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000069165 Gene: ENSMUSG00000056004 AA Change: V813A
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: V813A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121757 Gene: ENSMUSG00000056004 AA Change: V813A
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 benign
Transcript: ENSMUST00000155764
|
SMART Domains |
Protein: ENSMUSP00000120849 Gene: ENSMUSG00000056004
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb3 |
A |
G |
11: 30,948,495 (GRCm39) |
E57G |
probably benign |
Het |
B3glct |
A |
G |
5: 149,632,785 (GRCm39) |
D45G |
probably benign |
Het |
BC034090 |
C |
A |
1: 155,101,073 (GRCm39) |
C397F |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,415,374 (GRCm39) |
K696E |
probably damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,868 (GRCm39) |
C15Y |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,557,257 (GRCm39) |
N300S |
|
Het |
Chia1 |
T |
A |
3: 106,036,239 (GRCm39) |
L273Q |
probably damaging |
Het |
Coq2 |
A |
G |
5: 100,808,136 (GRCm39) |
S222P |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,234,931 (GRCm39) |
V432A |
possibly damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,797 (GRCm39) |
F92S |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,122,839 (GRCm39) |
S183P |
probably damaging |
Het |
Emcn |
T |
A |
3: 137,124,837 (GRCm39) |
W217R |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,773,429 (GRCm39) |
|
probably null |
Het |
Epb41 |
T |
C |
4: 131,695,145 (GRCm39) |
E14G |
unknown |
Het |
Fhip1b |
G |
T |
7: 105,033,432 (GRCm39) |
R609S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,873,608 (GRCm39) |
R225G |
probably damaging |
Het |
Insl6 |
A |
T |
19: 29,298,945 (GRCm39) |
W156R |
possibly damaging |
Het |
Ints3 |
A |
T |
3: 90,311,290 (GRCm39) |
|
probably null |
Het |
Jarid2 |
G |
A |
13: 45,055,748 (GRCm39) |
G318D |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,556,650 (GRCm39) |
L596H |
probably damaging |
Het |
Lctl |
T |
A |
9: 64,034,203 (GRCm39) |
Y281N |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,935,992 (GRCm39) |
C34S |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,148,644 (GRCm39) |
S475P |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,389,767 (GRCm39) |
D1886V |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,301,670 (GRCm39) |
I944K |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mecom |
C |
A |
3: 30,034,282 (GRCm39) |
A465S |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,567,768 (GRCm39) |
S1584P |
unknown |
Het |
Mycbp2 |
A |
G |
14: 103,434,679 (GRCm39) |
|
probably null |
Het |
Myo18b |
G |
A |
5: 112,959,938 (GRCm39) |
R1372W |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,616 (GRCm39) |
I706T |
possibly damaging |
Het |
Myo1g |
T |
C |
11: 6,460,933 (GRCm39) |
T704A |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,419,556 (GRCm39) |
K914E |
probably benign |
Het |
Or5ac20 |
T |
A |
16: 59,104,287 (GRCm39) |
D191V |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,227 (GRCm39) |
I77L |
possibly damaging |
Het |
Or8k23 |
C |
T |
2: 86,186,088 (GRCm39) |
V213I |
probably benign |
Het |
Otub2 |
C |
T |
12: 103,366,480 (GRCm39) |
S99L |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,943,105 (GRCm39) |
S345L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,638,616 (GRCm39) |
I381F |
possibly damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,969 (GRCm39) |
T659A |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,321 (GRCm39) |
K533N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,402 (GRCm39) |
Q933L |
|
Het |
Ppp4r3a |
A |
T |
12: 101,019,770 (GRCm39) |
M395K |
possibly damaging |
Het |
Pramel11 |
C |
A |
4: 143,621,991 (GRCm39) |
V455L |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,336,481 (GRCm39) |
T107A |
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,227,900 (GRCm39) |
D376E |
unknown |
Het |
Scn11a |
C |
A |
9: 119,644,331 (GRCm39) |
C143F |
probably damaging |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,097 (GRCm39) |
Y79* |
probably null |
Het |
Sez6 |
T |
A |
11: 77,853,691 (GRCm39) |
I287N |
probably damaging |
Het |
Slc52a3 |
T |
A |
2: 151,846,336 (GRCm39) |
I99K |
possibly damaging |
Het |
Slco4c1 |
T |
G |
1: 96,799,518 (GRCm39) |
H106P |
probably damaging |
Het |
Tada2b |
A |
G |
5: 36,633,952 (GRCm39) |
Y209H |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,963 (GRCm39) |
D796E |
probably benign |
Het |
Tdrd12 |
A |
T |
7: 35,187,147 (GRCm39) |
M581K |
|
Het |
Thnsl1 |
A |
G |
2: 21,217,269 (GRCm39) |
E341G |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,075,070 (GRCm39) |
R11* |
probably null |
Het |
Tmco6 |
T |
C |
18: 36,872,396 (GRCm39) |
|
probably null |
Het |
Trmt44 |
A |
T |
5: 35,721,647 (GRCm39) |
H505Q |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,590,328 (GRCm39) |
M710V |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,040,517 (GRCm39) |
E858G |
possibly damaging |
Het |
Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,464,195 (GRCm39) |
N213S |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,655,776 (GRCm39) |
V662I |
|
Het |
Zfp414 |
C |
A |
17: 33,850,253 (GRCm39) |
D217E |
probably benign |
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 |
|
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'- TTACTCTTATCTGGAATGGCTCAG -3'
(R):5'- AAGCTGTCATGCTAGGCAC -3'
Sequencing Primer
(F):5'- GGAATGGCTCAGTTTAATATTTCTGG -3'
(R):5'- TGTCATGCTAGGCACCCTGAAG -3'
|
Posted On |
2019-06-26 |