Incidental Mutation 'R1327:Rtn3'
| ID |
157263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn3
|
| Ensembl Gene |
ENSMUSG00000024758 |
| Gene Name |
reticulon 3 |
| Synonyms |
|
| MMRRC Submission |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7403266-7460646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7408376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 922
(V922A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025667]
[ENSMUST00000065304]
[ENSMUST00000088169]
[ENSMUST00000088171]
|
| AlphaFold |
Q9ES97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025667
AA Change: V195A
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758
AA Change: V195A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
40 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
49 |
219 |
8.7e-58 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065304
AA Change: V922A
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: V922A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
650 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
776 |
940 |
9.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088169
AA Change: V214A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758
AA Change: V214A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
66 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
68 |
238 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088171
AA Change: V903A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: V903A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
631 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
757 |
927 |
1.8e-56 |
PFAM |
|
| Meta Mutation Damage Score |
0.7545 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rtn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Rtn3
|
APN |
19 |
7,412,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Rtn3
|
APN |
19 |
7,460,406 (GRCm39) |
missense |
unknown |
|
|
IGL01347:Rtn3
|
APN |
19 |
7,434,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01845:Rtn3
|
APN |
19 |
7,435,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Rtn3
|
APN |
19 |
7,412,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03024:Rtn3
|
APN |
19 |
7,460,455 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0399:Rtn3
|
UTSW |
19 |
7,435,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Rtn3
|
UTSW |
19 |
7,434,958 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0826:Rtn3
|
UTSW |
19 |
7,445,245 (GRCm39) |
intron |
probably benign |
|
|
R1735:Rtn3
|
UTSW |
19 |
7,435,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2093:Rtn3
|
UTSW |
19 |
7,434,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Rtn3
|
UTSW |
19 |
7,409,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Rtn3
|
UTSW |
19 |
7,412,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Rtn3
|
UTSW |
19 |
7,435,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3962:Rtn3
|
UTSW |
19 |
7,435,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3963:Rtn3
|
UTSW |
19 |
7,435,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4161:Rtn3
|
UTSW |
19 |
7,460,444 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4960:Rtn3
|
UTSW |
19 |
7,433,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Rtn3
|
UTSW |
19 |
7,435,560 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5735:Rtn3
|
UTSW |
19 |
7,434,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5796:Rtn3
|
UTSW |
19 |
7,434,832 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5807:Rtn3
|
UTSW |
19 |
7,434,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5864:Rtn3
|
UTSW |
19 |
7,412,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Rtn3
|
UTSW |
19 |
7,435,503 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6703:Rtn3
|
UTSW |
19 |
7,412,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Rtn3
|
UTSW |
19 |
7,435,696 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6888:Rtn3
|
UTSW |
19 |
7,434,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6989:Rtn3
|
UTSW |
19 |
7,433,856 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6992:Rtn3
|
UTSW |
19 |
7,412,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Rtn3
|
UTSW |
19 |
7,407,118 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7610:Rtn3
|
UTSW |
19 |
7,435,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Rtn3
|
UTSW |
19 |
7,435,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7909:Rtn3
|
UTSW |
19 |
7,433,827 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7915:Rtn3
|
UTSW |
19 |
7,434,865 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8088:Rtn3
|
UTSW |
19 |
7,412,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Rtn3
|
UTSW |
19 |
7,434,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8725:Rtn3
|
UTSW |
19 |
7,434,726 (GRCm39) |
missense |
probably benign |
|
|
R8727:Rtn3
|
UTSW |
19 |
7,434,726 (GRCm39) |
missense |
probably benign |
|
|
R8917:Rtn3
|
UTSW |
19 |
7,434,105 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9225:Rtn3
|
UTSW |
19 |
7,434,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Rtn3
|
UTSW |
19 |
7,460,328 (GRCm39) |
missense |
unknown |
|
|
X0060:Rtn3
|
UTSW |
19 |
7,409,936 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1192:Rtn3
|
UTSW |
19 |
7,460,342 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTCCACAATGGAAACATCTGCTC -3'
(R):5'- TGGGGACCTTGCTTTTAGAAACCAC -3'
Sequencing Primer
(F):5'- GCTCACACTAACATTTCCTTGG -3'
(R):5'- GTTAGGGGTTTTTCAACACTACC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation