Incidental Mutation 'R1770:Elapor2'
| ID |
196477 |
| 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 |
039801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1770 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9468021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 230
(T230S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(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: T230S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: T230S
| 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 benign
Transcript: ENSMUST00000134991
AA Change: T230S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: T230S
| 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 |
silent
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
AA Change: T230S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: T230S
| 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 |
0.0704 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
92% (69/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,661,874 (GRCm39) |
T84A |
probably benign |
Het |
| Adgra1 |
T |
A |
7: 139,453,947 (GRCm39) |
Y161* |
probably null |
Het |
| Aldoart1 |
G |
T |
4: 72,770,173 (GRCm39) |
H212N |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,536,861 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,391,235 (GRCm39) |
V2036E |
possibly damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,528 (GRCm39) |
T131A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,945,293 (GRCm39) |
R1354H |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,108 (GRCm39) |
V71A |
probably benign |
Het |
| C4b |
T |
A |
17: 34,955,901 (GRCm39) |
N678I |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,357,657 (GRCm39) |
L64P |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,474,487 (GRCm39) |
S786P |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,751,042 (GRCm39) |
E296G |
possibly damaging |
Het |
| Chml |
G |
A |
1: 175,515,444 (GRCm39) |
T159I |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,246,166 (GRCm39) |
E328K |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,983 (GRCm39) |
I35V |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,642 (GRCm39) |
K275R |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,522,615 (GRCm39) |
E364G |
probably benign |
Het |
| Dcaf13 |
A |
T |
15: 38,993,633 (GRCm39) |
N242I |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,579,470 (GRCm39) |
V701A |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,456,200 (GRCm39) |
Y797N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,064,417 (GRCm39) |
I4791K |
probably damaging |
Het |
| Gm3852 |
T |
C |
1: 46,051,048 (GRCm39) |
I45V |
possibly damaging |
Het |
| Gng4 |
A |
G |
13: 13,999,851 (GRCm39) |
D40G |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,213,952 (GRCm39) |
D209G |
probably benign |
Het |
| Kif6 |
C |
A |
17: 50,210,677 (GRCm39) |
Q791K |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,082 (GRCm39) |
V569M |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lrrc8c |
A |
G |
5: 105,754,603 (GRCm39) |
Y126C |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,838 (GRCm39) |
V62A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,001 (GRCm39) |
R1907G |
unknown |
Het |
| Mertk |
A |
G |
2: 128,592,094 (GRCm39) |
I273V |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,223 (GRCm39) |
Y225H |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,229,619 (GRCm39) |
V684A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,287,651 (GRCm39) |
W97* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,986,469 (GRCm39) |
I516V |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,761,813 (GRCm39) |
|
probably benign |
Het |
| Ndufs5 |
T |
C |
4: 123,606,661 (GRCm39) |
Y92C |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,050,979 (GRCm39) |
V1035I |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,009,132 (GRCm39) |
R308G |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,643 (GRCm39) |
I87V |
probably benign |
Het |
| Pcdhb16 |
G |
T |
18: 37,612,233 (GRCm39) |
G398W |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,543,326 (GRCm39) |
S237T |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,634 (GRCm39) |
F769I |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,631,950 (GRCm39) |
V261A |
probably damaging |
Het |
| Prss52 |
C |
T |
14: 64,351,082 (GRCm39) |
A289V |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,942,723 (GRCm39) |
K407E |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,462,580 (GRCm39) |
D1455G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,301 (GRCm39) |
N1054S |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,684,567 (GRCm39) |
S1965P |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,654 (GRCm39) |
Y142C |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,122 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,572,464 (GRCm39) |
E935G |
possibly damaging |
Het |
| Tas2r115 |
G |
A |
6: 132,714,934 (GRCm39) |
R6C |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,681 (GRCm39) |
|
probably benign |
Het |
| Trim29 |
A |
T |
9: 43,243,673 (GRCm39) |
Q564L |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,868 (GRCm39) |
D231G |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,487,787 (GRCm39) |
K676E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
| Ugt1a2 |
A |
G |
1: 88,129,160 (GRCm39) |
I268V |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,667,852 (GRCm39) |
N330D |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,351,040 (GRCm39) |
H2822Y |
probably damaging |
Het |
| Vmn1r176 |
G |
A |
7: 23,534,946 (GRCm39) |
A69V |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,560 (GRCm39) |
Y613C |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,686,857 (GRCm39) |
W296R |
probably damaging |
Het |
| Zfp11 |
G |
A |
5: 129,734,822 (GRCm39) |
T213I |
possibly damaging |
Het |
| Zfp142 |
A |
T |
1: 74,618,790 (GRCm39) |
F193I |
probably damaging |
Het |
| Zfp764 |
G |
A |
7: 127,004,739 (GRCm39) |
Q131* |
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 |
|
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 |
|
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'- GTCAGAACCACTTCCTCACATGCAG -3'
(R):5'- GAACCGCAAAGGCAGTTTCTTCAC -3'
Sequencing Primer
(F):5'- GCAGTTGTAGTGTCGTCTTCAG -3'
(R):5'- GCAAAGGCAGTTTCTTCACTAAATG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation