Incidental Mutation 'R5544:Retreg2'
| ID |
436135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Retreg2
|
| Ensembl Gene |
ENSMUSG00000049339 |
| Gene Name |
reticulophagy regulator family member 2 |
| Synonyms |
MGC47289, Fam134a |
| MMRRC Submission |
043102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5544 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75119422-75124557 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to G
at 75121333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glycine
at position 174
(*174G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041213]
[ENSMUST00000097694]
[ENSMUST00000168720]
[ENSMUST00000187901]
[ENSMUST00000188873]
[ENSMUST00000190240]
[ENSMUST00000189809]
[ENSMUST00000189650]
[ENSMUST00000189403]
[ENSMUST00000190679]
|
| 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: M203R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: M203R
| 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: M151R
|
| 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 null
Transcript: ENSMUST00000188873
AA Change: *174G
|
| SMART Domains |
Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339
AA Change: *174G
| 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: M203R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: M203R
| 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: 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: ENSMUST00000189345
|
| 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 |
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
| Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
| Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
| Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
| Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
| Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
| Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
| Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
| Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
| Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
| Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
| R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
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 |
|
R3027:Retreg2
|
UTSW |
1 |
75,123,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TGAAATGGTTGCAGGAGTCG -3'
(R):5'- TTTCTCAAGGCAGTGATACCC -3'
Sequencing Primer
(F):5'- GCAGTGACTGTTGTAAATTTCCTC -3'
(R):5'- AAGGCAGTGATACCCTCTTCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation