Incidental Mutation 'P0028:Rtp1'
| ID |
15783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtp1
|
| Ensembl Gene |
ENSMUSG00000033383 |
| Gene Name |
receptor transporter protein 1 |
| Synonyms |
LOC239766, LOC385871 |
| MMRRC Submission |
038281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
P0028 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23247883-23252710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 23248116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Serine
at position 63
(W63S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038730]
|
| AlphaFold |
Q8C8C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038730
AA Change: W63S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: W63S
| Domain | Start | End | E-Value | Type |
|---|
|
zf-3CxxC
|
87 |
197 |
3.5e-39 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158237
|
| Meta Mutation Damage Score |
0.6371 |
| Coding Region Coverage |
- 1x: 85.4%
- 3x: 79.0%
- 10x: 59.9%
- 20x: 38.6%
|
| Validation Efficiency |
78% (43/55) |
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap17 |
G |
A |
7: 122,885,900 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,841,541 (GRCm39) |
R186G |
probably benign |
Het |
| Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
| Cutc |
A |
G |
19: 43,753,408 (GRCm39) |
R184G |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,374,634 (GRCm39) |
N850S |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,601,053 (GRCm39) |
|
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,707,386 (GRCm39) |
L234* |
probably null |
Het |
| Fam171b |
T |
A |
2: 83,683,783 (GRCm39) |
V100E |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,001,650 (GRCm39) |
M614K |
probably benign |
Het |
| Myh6 |
C |
T |
14: 55,201,094 (GRCm39) |
V123I |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,331,096 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,608,166 (GRCm39) |
|
probably benign |
Het |
| Rb1 |
C |
A |
14: 73,502,068 (GRCm39) |
R439L |
probably damaging |
Het |
| Rcsd1 |
G |
A |
1: 165,483,566 (GRCm39) |
R142W |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,403,022 (GRCm39) |
T1888A |
probably benign |
Het |
| Srp68 |
C |
A |
11: 116,151,746 (GRCm39) |
Q283H |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,256,225 (GRCm39) |
C3927S |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,139 (GRCm39) |
K605E |
possibly damaging |
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 |
|
IGL02432:Rtp1
|
APN |
16 |
23,250,154 (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 |
|
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 |
2013-01-04 |
Incidental Mutation