Incidental Mutation 'R4205:Rtn4rl1'
ID |
318879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rtn4rl1
|
Ensembl Gene |
ENSMUSG00000045287 |
Gene Name |
reticulon 4 receptor-like 1 |
Synonyms |
Ngr3, Ngrl2, Ngrh2 |
MMRRC Submission |
041034-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R4205 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75084819-75158595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75156818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 417
(P417T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102514]
|
AlphaFold |
Q8K0S5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102514
AA Change: P417T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099572 Gene: ENSMUSG00000045287 AA Change: P417T
Domain | Start | End | E-Value | Type |
LRRNT
|
24 |
58 |
2.74e-2 |
SMART |
LRR
|
76 |
98 |
5.57e1 |
SMART |
LRR
|
99 |
123 |
1.73e0 |
SMART |
LRR
|
124 |
147 |
2.14e0 |
SMART |
LRR_TYP
|
148 |
171 |
1.1e-2 |
SMART |
LRR_TYP
|
172 |
195 |
6.88e-4 |
SMART |
LRR
|
196 |
219 |
2.49e-1 |
SMART |
LRR
|
220 |
243 |
5.72e0 |
SMART |
LRRCT
|
255 |
305 |
8.21e-2 |
SMART |
|
Meta Mutation Damage Score |
0.2010 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display fatty change in the liver, bile duct lesions in females and hepatocytes with enlarged vacuoles and nuclei in the male. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
Het |
|
Other mutations in Rtn4rl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01479:Rtn4rl1
|
APN |
11 |
75,156,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02161:Rtn4rl1
|
APN |
11 |
75,156,666 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02420:Rtn4rl1
|
APN |
11 |
75,156,645 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02641:Rtn4rl1
|
APN |
11 |
75,156,650 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02984:Rtn4rl1
|
UTSW |
11 |
75,156,087 (GRCm39) |
missense |
probably benign |
0.10 |
R0699:Rtn4rl1
|
UTSW |
11 |
75,156,050 (GRCm39) |
missense |
probably benign |
0.15 |
R0699:Rtn4rl1
|
UTSW |
11 |
75,156,048 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1669:Rtn4rl1
|
UTSW |
11 |
75,156,753 (GRCm39) |
missense |
probably benign |
|
R1925:Rtn4rl1
|
UTSW |
11 |
75,156,864 (GRCm39) |
missense |
probably benign |
0.17 |
R2679:Rtn4rl1
|
UTSW |
11 |
75,156,552 (GRCm39) |
missense |
probably benign |
0.21 |
R4205:Rtn4rl1
|
UTSW |
11 |
75,156,809 (GRCm39) |
missense |
probably damaging |
0.97 |
R6326:Rtn4rl1
|
UTSW |
11 |
75,156,828 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6703:Rtn4rl1
|
UTSW |
11 |
75,156,354 (GRCm39) |
missense |
probably benign |
0.02 |
R7085:Rtn4rl1
|
UTSW |
11 |
75,156,050 (GRCm39) |
missense |
probably benign |
0.03 |
R7203:Rtn4rl1
|
UTSW |
11 |
75,156,576 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7320:Rtn4rl1
|
UTSW |
11 |
75,085,122 (GRCm39) |
critical splice donor site |
probably null |
|
R7754:Rtn4rl1
|
UTSW |
11 |
75,155,871 (GRCm39) |
missense |
probably benign |
|
R8038:Rtn4rl1
|
UTSW |
11 |
75,156,707 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8244:Rtn4rl1
|
UTSW |
11 |
75,156,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Rtn4rl1
|
UTSW |
11 |
75,156,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R8679:Rtn4rl1
|
UTSW |
11 |
75,156,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R9240:Rtn4rl1
|
UTSW |
11 |
75,156,082 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1186:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1187:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1188:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1189:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1190:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1191:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
Z1192:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGGTCAGGTTACAAGAAGG -3'
(R):5'- ACCCAGCAGATCTTCCACTTAG -3'
Sequencing Primer
(F):5'- TCAGGTTACAAGAAGGCAGGC -3'
(R):5'- CTGTTCCTTGCTGGACAT -3'
|
Posted On |
2015-06-10 |