Incidental Mutation 'IGL02161:Rtn4rl1'
| ID |
282481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rtn4rl1
|
| Ensembl Gene |
ENSMUSG00000045287 |
| Gene Name |
reticulon 4 receptor-like 1 |
| Synonyms |
Ngr3, Ngrl2, Ngrh2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL02161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75084819-75158595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75156666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 366
(R366Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102514]
|
| AlphaFold |
Q8K0S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102514
AA Change: R366Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: R366Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,838,490 (GRCm39) |
V1024D |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,400,154 (GRCm39) |
M262L |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,498 (GRCm39) |
T1135A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,726,623 (GRCm39) |
Y2177* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,855,832 (GRCm39) |
H214P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,375,674 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,778,000 (GRCm39) |
T149I |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,569 (GRCm39) |
R942S |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,761,302 (GRCm39) |
A941V |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,957,654 (GRCm39) |
Q471R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,408,426 (GRCm39) |
V380I |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,648,432 (GRCm39) |
Q857L |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,745,702 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,908,346 (GRCm39) |
R2552I |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,908,347 (GRCm39) |
R2552* |
probably null |
Het |
| Fbln7 |
A |
T |
2: 128,731,711 (GRCm39) |
K166I |
probably benign |
Het |
| Glrx2 |
C |
T |
1: 143,615,421 (GRCm39) |
S8L |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,846 (GRCm39) |
I630L |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,377 (GRCm39) |
W423R |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,550,245 (GRCm39) |
E468G |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,059,762 (GRCm39) |
S566P |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,409,625 (GRCm39) |
S509P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,602,875 (GRCm39) |
F221S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,441 (GRCm39) |
F370S |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,797 (GRCm39) |
V255L |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,555 (GRCm39) |
S596T |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,281,887 (GRCm39) |
S472I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,235,940 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
C |
T |
2: 51,024,088 (GRCm39) |
V164M |
probably benign |
Het |
| Sesn2 |
A |
T |
4: 132,224,229 (GRCm39) |
I393N |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,626,430 (GRCm39) |
N46S |
probably benign |
Het |
| Svopl |
A |
G |
6: 38,013,750 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,635,583 (GRCm39) |
Q178* |
probably null |
Het |
| Vax2 |
T |
C |
6: 83,714,885 (GRCm39) |
S267P |
probably damaging |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,298 (GRCm39) |
Y143* |
probably null |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,123 (GRCm39) |
S375P |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,814 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,835,146 (GRCm39) |
S94N |
possibly damaging |
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 |
|
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 |
75,156,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation