Incidental Mutation 'R5465:Rtn4r'
| ID |
433221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4r
|
| Ensembl Gene |
ENSMUSG00000043811 |
| Gene Name |
reticulon 4 receptor |
| Synonyms |
NgR1, Nogo-66 receptor, NgR |
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.638)
|
| Stock # |
R5465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17945506-17970272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17969291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 240
(M240L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059589]
|
| AlphaFold |
Q99PI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059589
AA Change: M240L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000062924
Gene: ENSMUSG00000043811
AA Change: M240L
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
26 |
61 |
2.32e0 |
SMART |
|
LRR
|
60 |
79 |
8.49e1 |
SMART |
|
LRR
|
80 |
103 |
8.01e0 |
SMART |
|
LRR
|
104 |
128 |
1.22e1 |
SMART |
|
LRR_TYP
|
129 |
152 |
4.11e-2 |
SMART |
|
LRR_TYP
|
153 |
176 |
8.6e-5 |
SMART |
|
LRR_TYP
|
177 |
200 |
5.67e-5 |
SMART |
|
LRR
|
201 |
224 |
6.13e-1 |
SMART |
|
LRR
|
225 |
248 |
6.4e0 |
SMART |
|
LRRCT
|
260 |
310 |
1.65e-2 |
SMART |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
464 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased exploration in new environment, impaired coordination, and improved recovery and rubrospinal axon regeneration following spinal cord injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp1 |
T |
C |
7: 30,136,277 (GRCm39) |
D500G |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,783 (GRCm39) |
I235F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Slx4ip |
T |
G |
2: 136,846,867 (GRCm39) |
L44R |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,839,836 (GRCm39) |
I284N |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Rtn4r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Rtn4r
|
APN |
16 |
17,969,260 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01647:Rtn4r
|
APN |
16 |
17,969,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Rtn4r
|
APN |
16 |
17,969,321 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02738:Rtn4r
|
APN |
16 |
17,969,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Rtn4r
|
UTSW |
16 |
17,969,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Rtn4r
|
UTSW |
16 |
17,969,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Rtn4r
|
UTSW |
16 |
17,969,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6267:Rtn4r
|
UTSW |
16 |
17,969,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Rtn4r
|
UTSW |
16 |
17,969,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7769:Rtn4r
|
UTSW |
16 |
17,969,153 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7816:Rtn4r
|
UTSW |
16 |
17,969,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7904:Rtn4r
|
UTSW |
16 |
17,969,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8240:Rtn4r
|
UTSW |
16 |
17,969,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9094:Rtn4r
|
UTSW |
16 |
17,969,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9099:Rtn4r
|
UTSW |
16 |
17,969,068 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1177:Rtn4r
|
UTSW |
16 |
17,969,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCATGGCAACCGTATC -3'
(R):5'- TCAGTGAGCTGACTGGTCTG -3'
Sequencing Primer
(F):5'- ATGGCAACCGTATCCCCAGTG -3'
(R):5'- AGGCGCTTAAGATCACGGTCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation