Incidental Mutation 'R2973:Rtn1'
| ID |
255291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn1
|
| Ensembl Gene |
ENSMUSG00000021087 |
| Gene Name |
reticulon 1 |
| Synonyms |
Rtn1-c, 4930441F12Rik, Nsp, Rtn1-a, Rtn1-b, 0710005K15Rik |
| MMRRC Submission |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72258526-72455828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72270163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 116
(R116L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021497]
[ENSMUST00000078505]
[ENSMUST00000137990]
|
| AlphaFold |
Q8K0T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021497
AA Change: R71L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021497
Gene: ENSMUSG00000021087
AA Change: R71L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Reticulon
|
21 |
191 |
1.2e-62 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078505
AA Change: R643L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: R643L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
586 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
593 |
757 |
2.2e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137990
AA Change: R116L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120033
Gene: ENSMUSG00000021087
AA Change: R116L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
66 |
236 |
2.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150156
|
| Meta Mutation Damage Score |
0.9598 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
|
| Other mutations in Rtn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Rtn1
|
APN |
12 |
72,455,285 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01335:Rtn1
|
APN |
12 |
72,355,124 (GRCm39) |
missense |
probably benign |
|
|
IGL01394:Rtn1
|
APN |
12 |
72,355,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01551:Rtn1
|
APN |
12 |
72,263,709 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01865:Rtn1
|
APN |
12 |
72,266,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Rtn1
|
APN |
12 |
72,354,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4802001:Rtn1
|
UTSW |
12 |
72,351,100 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0104:Rtn1
|
UTSW |
12 |
72,355,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0866:Rtn1
|
UTSW |
12 |
72,355,156 (GRCm39) |
nonsense |
probably null |
|
|
R1099:Rtn1
|
UTSW |
12 |
72,351,241 (GRCm39) |
splice site |
probably null |
|
|
R1438:Rtn1
|
UTSW |
12 |
72,351,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1610:Rtn1
|
UTSW |
12 |
72,266,053 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1694:Rtn1
|
UTSW |
12 |
72,270,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Rtn1
|
UTSW |
12 |
72,354,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Rtn1
|
UTSW |
12 |
72,283,307 (GRCm39) |
intron |
probably benign |
|
|
R1889:Rtn1
|
UTSW |
12 |
72,351,184 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1892:Rtn1
|
UTSW |
12 |
72,259,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Rtn1
|
UTSW |
12 |
72,351,052 (GRCm39) |
missense |
probably benign |
|
|
R2760:Rtn1
|
UTSW |
12 |
72,455,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4567:Rtn1
|
UTSW |
12 |
72,259,261 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4880:Rtn1
|
UTSW |
12 |
72,264,232 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4945:Rtn1
|
UTSW |
12 |
72,264,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Rtn1
|
UTSW |
12 |
72,455,265 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6493:Rtn1
|
UTSW |
12 |
72,355,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6547:Rtn1
|
UTSW |
12 |
72,355,535 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6602:Rtn1
|
UTSW |
12 |
72,266,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7474:Rtn1
|
UTSW |
12 |
72,355,164 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7615:Rtn1
|
UTSW |
12 |
72,350,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Rtn1
|
UTSW |
12 |
72,455,151 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7748:Rtn1
|
UTSW |
12 |
72,263,700 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7754:Rtn1
|
UTSW |
12 |
72,355,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7834:Rtn1
|
UTSW |
12 |
72,350,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7970:Rtn1
|
UTSW |
12 |
72,355,648 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8290:Rtn1
|
UTSW |
12 |
72,355,193 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8311:Rtn1
|
UTSW |
12 |
72,350,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8440:Rtn1
|
UTSW |
12 |
72,270,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Rtn1
|
UTSW |
12 |
72,263,586 (GRCm39) |
nonsense |
probably null |
|
|
R9579:Rtn1
|
UTSW |
12 |
72,270,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9632:Rtn1
|
UTSW |
12 |
72,350,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rtn1
|
UTSW |
12 |
72,355,638 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGGTTCTGGAAAAGTCTAG -3'
(R):5'- CCATCAGTCAGTGTGTCTGG -3'
Sequencing Primer
(F):5'- CTGGAAAAGTCTAGGGGGTTC -3'
(R):5'- TCGGAGTCACGTGCTGTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation