Incidental Mutation 'R3858:Rtn4rl2'
| ID |
276242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4rl2
|
| Ensembl Gene |
ENSMUSG00000050896 |
| Gene Name |
reticulon 4 receptor-like 2 |
| Synonyms |
Ngrl3, Ngrh1, Ngr2 |
| MMRRC Submission |
040786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R3858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84702268-84717054 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 84710730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054514]
[ENSMUST00000151799]
|
| AlphaFold |
Q7M6Z0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054514
|
| SMART Domains |
Protein: ENSMUSP00000057725
Gene: ENSMUSG00000050896
| 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 null
Transcript: ENSMUST00000151799
|
| SMART Domains |
Protein: ENSMUSP00000118362
Gene: ENSMUSG00000050896
| 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 |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,863,581 (GRCm39) |
S179T |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Ccdc82 |
G |
A |
9: 13,251,704 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Cd2ap |
G |
A |
17: 43,127,463 (GRCm39) |
Q377* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,808 (GRCm39) |
L167S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irs4 |
T |
C |
X: 140,507,059 (GRCm39) |
E379G |
probably damaging |
Het |
| Kcnmb2 |
T |
C |
3: 32,252,450 (GRCm39) |
V217A |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,408,907 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,798,409 (GRCm39) |
C757S |
possibly damaging |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,648,117 (GRCm39) |
L2* |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Pirb |
T |
C |
7: 3,720,662 (GRCm39) |
K279E |
possibly damaging |
Het |
| Pmp22 |
T |
C |
11: 63,025,301 (GRCm39) |
S45P |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,930,261 (GRCm39) |
T612A |
probably benign |
Het |
| Sis |
A |
G |
3: 72,835,985 (GRCm39) |
I868T |
probably damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tor3a |
T |
A |
1: 156,497,124 (GRCm39) |
L140F |
probably damaging |
Het |
| Vcf2 |
T |
C |
X: 149,203,357 (GRCm39) |
Q39R |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,594 (GRCm39) |
M57T |
probably benign |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
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 |
|
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 |
|
|
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'- ACAGACTTTGGGGAGTGTGC -3'
(R):5'- AGAAGAACTGGACCTCGGTGAC -3'
Sequencing Primer
(F):5'- GGACAGACCCACAGGCAG -3'
(R):5'- TGACAACCGGCACCTGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation