Incidental Mutation 'R2888:Rtn4'
| ID |
260003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4
|
| Ensembl Gene |
ENSMUSG00000020458 |
| Gene Name |
reticulon 4 |
| Synonyms |
1110020G17Rik, C130026I10Rik, Nogo-A, NgA, NOGO, Nogo-B |
| MMRRC Submission |
040476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.763)
|
| Stock # |
R2888 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29642947-29694331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29643687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 167
(S167P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078830]
[ENSMUST00000102841]
[ENSMUST00000102842]
[ENSMUST00000102843]
[ENSMUST00000170731]
|
| AlphaFold |
Q99P72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078830
AA Change: S167P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458
AA Change: S167P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
169 |
339 |
4.2e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102841
|
| SMART Domains |
Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
110 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
859 |
1029 |
6.3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102842
AA Change: S167P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458
AA Change: S167P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
188 |
358 |
4.8e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102843
AA Change: S167P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: S167P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
226 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
975 |
1139 |
2.4e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120906
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170731
AA Change: S167P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458
AA Change: S167P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
169 |
339 |
4.2e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice lacking the A and B isoforms are viable and one line shows enhanced regeneration and recovery after spinal cord injury. Different lines of mice lacking isoforms A, B, and C show varying phenotypes. Whereas some produce viable homozygotes, others are embryonic lethal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
| Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
| Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
| Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,940 (GRCm39) |
D483G |
probably damaging |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,187,668 (GRCm39) |
R176C |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
| Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
| Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,617,887 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
| Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
probably benign |
Het |
|
| Other mutations in Rtn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01784:Rtn4
|
APN |
11 |
29,657,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Rtn4
|
APN |
11 |
29,658,291 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02475:Rtn4
|
APN |
11 |
29,683,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Rtn4
|
APN |
11 |
29,656,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0063:Rtn4
|
UTSW |
11 |
29,655,527 (GRCm39) |
intron |
probably benign |
|
|
R0110:Rtn4
|
UTSW |
11 |
29,683,849 (GRCm39) |
splice site |
probably benign |
|
|
R0510:Rtn4
|
UTSW |
11 |
29,683,849 (GRCm39) |
splice site |
probably benign |
|
|
R0653:Rtn4
|
UTSW |
11 |
29,657,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Rtn4
|
UTSW |
11 |
29,656,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Rtn4
|
UTSW |
11 |
29,657,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Rtn4
|
UTSW |
11 |
29,686,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Rtn4
|
UTSW |
11 |
29,658,236 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1406:Rtn4
|
UTSW |
11 |
29,658,236 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1873:Rtn4
|
UTSW |
11 |
29,686,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Rtn4
|
UTSW |
11 |
29,686,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Rtn4
|
UTSW |
11 |
29,658,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2319:Rtn4
|
UTSW |
11 |
29,657,154 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3150:Rtn4
|
UTSW |
11 |
29,643,308 (GRCm39) |
small deletion |
probably benign |
|
|
R3403:Rtn4
|
UTSW |
11 |
29,657,690 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3974:Rtn4
|
UTSW |
11 |
29,657,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Rtn4
|
UTSW |
11 |
29,643,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4223:Rtn4
|
UTSW |
11 |
29,656,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4725:Rtn4
|
UTSW |
11 |
29,658,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Rtn4
|
UTSW |
11 |
29,658,660 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4802:Rtn4
|
UTSW |
11 |
29,658,660 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4974:Rtn4
|
UTSW |
11 |
29,690,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Rtn4
|
UTSW |
11 |
29,657,217 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5292:Rtn4
|
UTSW |
11 |
29,657,924 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5332:Rtn4
|
UTSW |
11 |
29,683,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Rtn4
|
UTSW |
11 |
29,691,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Rtn4
|
UTSW |
11 |
29,658,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6046:Rtn4
|
UTSW |
11 |
29,658,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Rtn4
|
UTSW |
11 |
29,656,791 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7386:Rtn4
|
UTSW |
11 |
29,657,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Rtn4
|
UTSW |
11 |
29,683,790 (GRCm39) |
nonsense |
probably null |
|
|
R7784:Rtn4
|
UTSW |
11 |
29,691,048 (GRCm39) |
nonsense |
probably null |
|
|
R7832:Rtn4
|
UTSW |
11 |
29,691,048 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Rtn4
|
UTSW |
11 |
29,643,274 (GRCm39) |
missense |
unknown |
|
|
R7896:Rtn4
|
UTSW |
11 |
29,655,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Rtn4
|
UTSW |
11 |
29,655,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Rtn4
|
UTSW |
11 |
29,657,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8724:Rtn4
|
UTSW |
11 |
29,643,316 (GRCm39) |
missense |
unknown |
|
|
R8823:Rtn4
|
UTSW |
11 |
29,656,609 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8872:Rtn4
|
UTSW |
11 |
29,658,633 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9196:Rtn4
|
UTSW |
11 |
29,658,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9223:Rtn4
|
UTSW |
11 |
29,656,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9384:Rtn4
|
UTSW |
11 |
29,658,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9493:Rtn4
|
UTSW |
11 |
29,691,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Rtn4
|
UTSW |
11 |
29,657,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Rtn4
|
UTSW |
11 |
29,656,919 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCAGTTCGTGACGGAG -3'
(R):5'- GAACTTCGTGCTGGAATGGG -3'
Sequencing Primer
(F):5'- TGGACTTCAGCAGCGACTC -3'
(R):5'- AACCAGCGACTTGGCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation