Incidental Mutation 'IGL02432:Rtp1'
| ID |
293167 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rtp1
|
| Ensembl Gene |
ENSMUSG00000033383 |
| Gene Name |
receptor transporter protein 1 |
| Synonyms |
LOC239766, LOC385871 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
23247883-23252710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23250154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 173
(Y173C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038730]
|
| AlphaFold |
Q8C8C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038730
AA Change: Y173C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: Y173C
| Domain | Start | End | E-Value | Type |
|---|
|
zf-3CxxC
|
87 |
197 |
3.5e-39 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility and abnormal olfactory bulb development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,314,481 (GRCm39) |
T399M |
probably benign |
Het |
| A830018L16Rik |
A |
T |
1: 11,818,303 (GRCm39) |
N321I |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,379,738 (GRCm39) |
T135A |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,589 (GRCm39) |
M848T |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,012 (GRCm39) |
D387G |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,131,311 (GRCm39) |
D413N |
probably benign |
Het |
| Gbp6 |
A |
T |
5: 105,422,228 (GRCm39) |
V492E |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,671 (GRCm39) |
M1358L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,876,465 (GRCm39) |
D880E |
possibly damaging |
Het |
| Mmd2 |
A |
T |
5: 142,561,094 (GRCm39) |
I47N |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,943,668 (GRCm39) |
M401I |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,668 (GRCm39) |
K963R |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,219,988 (GRCm39) |
H276R |
probably damaging |
Het |
| Pxn |
T |
A |
5: 115,683,805 (GRCm39) |
D79E |
probably damaging |
Het |
| Rho |
G |
A |
6: 115,909,146 (GRCm39) |
V61I |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,400,493 (GRCm39) |
D212G |
possibly damaging |
Het |
| Stpg1 |
A |
G |
4: 135,235,321 (GRCm39) |
E54G |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,853 (GRCm39) |
T140A |
probably benign |
Het |
| Traf3ip3 |
C |
T |
1: 192,866,884 (GRCm39) |
C316Y |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,101 (GRCm39) |
A517T |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,655 (GRCm39) |
N59S |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,313,821 (GRCm39) |
V387M |
probably benign |
Het |
|
| Other mutations in Rtp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02276:Rtp1
|
APN |
16 |
23,250,063 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02329:Rtp1
|
APN |
16 |
23,249,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02690:Rtp1
|
APN |
16 |
23,250,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Rtp1
|
UTSW |
16 |
23,248,044 (GRCm39) |
missense |
probably benign |
0.30 |
|
P0028:Rtp1
|
UTSW |
16 |
23,248,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Rtp1
|
UTSW |
16 |
23,250,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Rtp1
|
UTSW |
16 |
23,250,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0972:Rtp1
|
UTSW |
16 |
23,250,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1498:Rtp1
|
UTSW |
16 |
23,249,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Rtp1
|
UTSW |
16 |
23,250,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1767:Rtp1
|
UTSW |
16 |
23,250,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Rtp1
|
UTSW |
16 |
23,248,049 (GRCm39) |
missense |
probably benign |
|
|
R1921:Rtp1
|
UTSW |
16 |
23,250,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Rtp1
|
UTSW |
16 |
23,250,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Rtp1
|
UTSW |
16 |
23,249,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Rtp1
|
UTSW |
16 |
23,250,108 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5118:Rtp1
|
UTSW |
16 |
23,250,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5484:Rtp1
|
UTSW |
16 |
23,248,025 (GRCm39) |
missense |
probably benign |
|
|
R5614:Rtp1
|
UTSW |
16 |
23,249,940 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8509:Rtp1
|
UTSW |
16 |
23,248,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Rtp1
|
UTSW |
16 |
23,250,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Rtp1
|
UTSW |
16 |
23,250,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation