Incidental Mutation 'R1392:Rtn4rl2'
| ID |
200881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4rl2
|
| Ensembl Gene |
ENSMUSG00000050896 |
| Gene Name |
reticulon 4 receptor-like 2 |
| Synonyms |
Ngrl3, Ngrh1, Ngr2 |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84702268-84717054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84710856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 136
(L136P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054514]
[ENSMUST00000151799]
|
| AlphaFold |
Q7M6Z0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054514
AA Change: L130P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057725
Gene: ENSMUSG00000050896
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
30 |
64 |
1.45e-1 |
SMART |
|
LRR
|
63 |
82 |
2.47e1 |
SMART |
|
LRR
|
83 |
104 |
6.58e0 |
SMART |
|
LRR
|
105 |
129 |
2.32e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
2.4e-3 |
SMART |
|
LRR_TYP
|
154 |
177 |
2.71e-2 |
SMART |
|
LRR_TYP
|
178 |
201 |
1.36e-2 |
SMART |
|
LRR_TYP
|
202 |
225 |
4.72e-2 |
SMART |
|
LRR
|
226 |
249 |
1.25e-1 |
SMART |
|
LRRCT
|
261 |
311 |
3.1e-7 |
SMART |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151759
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151799
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118362
Gene: ENSMUSG00000050896
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
36 |
70 |
1.45e-1 |
SMART |
|
LRR
|
69 |
88 |
2.47e1 |
SMART |
|
LRR
|
89 |
110 |
6.58e0 |
SMART |
|
LRR
|
111 |
135 |
2.32e-1 |
SMART |
|
LRR_TYP
|
136 |
159 |
2.4e-3 |
SMART |
|
LRR_TYP
|
160 |
183 |
2.71e-2 |
SMART |
|
LRR_TYP
|
184 |
207 |
1.36e-2 |
SMART |
|
LRR_TYP
|
208 |
231 |
4.72e-2 |
SMART |
|
LRR
|
232 |
255 |
1.25e-1 |
SMART |
|
LRRCT
|
267 |
317 |
3.1e-7 |
SMART |
|
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
426 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930005H10Rik |
T |
C |
3: 115,681,653 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,772,311 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,579,304 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Hunk |
T |
C |
16: 90,269,352 (GRCm39) |
S299P |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,332,014 (GRCm39) |
|
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,919 (GRCm39) |
L83P |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rsad2 |
A |
G |
12: 26,495,439 (GRCm39) |
V352A |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,991,271 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Tmt1b |
T |
C |
10: 128,796,567 (GRCm39) |
T81A |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Rtn4rl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0626:Rtn4rl2
|
UTSW |
2 |
84,710,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0837:Rtn4rl2
|
UTSW |
2 |
84,711,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1392:Rtn4rl2
|
UTSW |
2 |
84,710,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Rtn4rl2
|
UTSW |
2 |
84,702,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3857:Rtn4rl2
|
UTSW |
2 |
84,710,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3858:Rtn4rl2
|
UTSW |
2 |
84,710,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5044:Rtn4rl2
|
UTSW |
2 |
84,702,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Rtn4rl2
|
UTSW |
2 |
84,710,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Rtn4rl2
|
UTSW |
2 |
84,710,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7755:Rtn4rl2
|
UTSW |
2 |
84,702,807 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8375:Rtn4rl2
|
UTSW |
2 |
84,711,033 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8416:Rtn4rl2
|
UTSW |
2 |
84,702,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Rtn4rl2
|
UTSW |
2 |
84,702,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Rtn4rl2
|
UTSW |
2 |
84,710,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Rtn4rl2
|
UTSW |
2 |
84,702,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9751:Rtn4rl2
|
UTSW |
2 |
84,711,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTCCAGCTTGCATGACAAGTG -3'
(R):5'- AACAACTTCTCCTCAGTGCCGC -3'
Sequencing Primer
(F):5'- aggaaaggtgacaggaaagg -3'
(R):5'- AGTACACAGAGACTCTTCTTGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation