Incidental Mutation 'R3027:Retreg2'
| ID |
265835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Retreg2
|
| Ensembl Gene |
ENSMUSG00000049339 |
| Gene Name |
reticulophagy regulator family member 2 |
| Synonyms |
MGC47289, Fam134a |
| MMRRC Submission |
040543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R3027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75119422-75124557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75123088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 339
(S339G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041213]
[ENSMUST00000097694]
[ENSMUST00000168720]
[ENSMUST00000187901]
[ENSMUST00000188873]
[ENSMUST00000190240]
[ENSMUST00000189403]
[ENSMUST00000190679]
[ENSMUST00000189809]
[ENSMUST00000189650]
|
| AlphaFold |
Q6NS82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041213
|
| SMART Domains |
Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
72 |
174 |
7.5e-10 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097694
AA Change: S339G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: S339G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168720
|
| SMART Domains |
Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186037
AA Change: S287G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187901
|
| SMART Domains |
Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188873
|
| SMART Domains |
Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188977
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190240
AA Change: S339G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: S339G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
65 |
231 |
1.4e-8 |
PFAM |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189403
|
| SMART Domains |
Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
44 |
170 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190679
|
| SMART Domains |
Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189809
|
| SMART Domains |
Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CYCLIN
|
81 |
114 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189650
|
| SMART Domains |
Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0741 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,827,240 (GRCm39) |
T993A |
probably damaging |
Het |
| Arhgap18 |
G |
A |
10: 26,722,092 (GRCm39) |
G21D |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,729,396 (GRCm39) |
C84* |
probably null |
Het |
| Dnmt3a |
T |
A |
12: 3,899,626 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,897,886 (GRCm39) |
D146G |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,934 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,977,439 (GRCm39) |
I775N |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,744 (GRCm39) |
Y1053* |
probably null |
Het |
| Kif21a |
T |
A |
15: 90,856,845 (GRCm39) |
N583Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,760,283 (GRCm39) |
E2995V |
probably benign |
Het |
| Or1ad8 |
G |
A |
11: 50,897,879 (GRCm39) |
V27M |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,895,330 (GRCm39) |
V38I |
probably benign |
Het |
| Or6aa1 |
T |
C |
7: 86,043,761 (GRCm39) |
N315S |
probably benign |
Het |
| Or8k39 |
C |
T |
2: 86,563,930 (GRCm39) |
V9M |
possibly damaging |
Het |
| Otos |
A |
T |
1: 92,572,076 (GRCm39) |
H83Q |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,747 (GRCm39) |
M96T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,016,196 (GRCm39) |
S1680T |
possibly damaging |
Het |
| Rad50 |
A |
G |
11: 53,586,208 (GRCm39) |
S263P |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,230,533 (GRCm39) |
L1193P |
probably benign |
Het |
| Schip1 |
G |
A |
3: 68,401,943 (GRCm39) |
A7T |
probably damaging |
Het |
| Shkbp1 |
A |
C |
7: 27,042,818 (GRCm39) |
S540A |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| Spag9 |
G |
T |
11: 93,977,203 (GRCm39) |
R103L |
probably null |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Spo11 |
T |
C |
2: 172,827,736 (GRCm39) |
Y146H |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,709,511 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
A |
G |
7: 4,122,721 (GRCm39) |
D23G |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp513 |
A |
G |
5: 31,356,673 (GRCm39) |
S540P |
possibly damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,404 (GRCm39) |
H211L |
probably benign |
Het |
|
| Other mutations in Retreg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Retreg2
|
APN |
1 |
75,121,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01625:Retreg2
|
APN |
1 |
75,121,359 (GRCm39) |
unclassified |
probably benign |
|
|
R0143:Retreg2
|
UTSW |
1 |
75,123,074 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1248:Retreg2
|
UTSW |
1 |
75,121,755 (GRCm39) |
unclassified |
probably benign |
|
|
R1446:Retreg2
|
UTSW |
1 |
75,120,103 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1463:Retreg2
|
UTSW |
1 |
75,123,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1734:Retreg2
|
UTSW |
1 |
75,119,630 (GRCm39) |
splice site |
probably null |
|
|
R1851:Retreg2
|
UTSW |
1 |
75,123,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1852:Retreg2
|
UTSW |
1 |
75,123,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2883:Retreg2
|
UTSW |
1 |
75,123,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4665:Retreg2
|
UTSW |
1 |
75,121,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Retreg2
|
UTSW |
1 |
75,121,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Retreg2
|
UTSW |
1 |
75,121,333 (GRCm39) |
makesense |
probably null |
|
|
R6143:Retreg2
|
UTSW |
1 |
75,123,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Retreg2
|
UTSW |
1 |
75,123,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Retreg2
|
UTSW |
1 |
75,121,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7822:Retreg2
|
UTSW |
1 |
75,123,185 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8826:Retreg2
|
UTSW |
1 |
75,119,525 (GRCm39) |
missense |
unknown |
|
|
Z1176:Retreg2
|
UTSW |
1 |
75,122,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTGTGTTCTCTGAGTTCC -3'
(R):5'- GCCCCATTGAAGTGCGTATTC -3'
Sequencing Primer
(F):5'- GTACACCATATGCATGCCTGGTG -3'
(R):5'- CCCATTGAAGTGCGTATTCACAAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation