Incidental Mutation 'IGL02329:Rtp1'
ID |
288594 |
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: 0.056)
|
Stock # |
IGL02329
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
23247883-23252710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23249943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 103
(S103P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038730]
|
AlphaFold |
Q8C8C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038730
AA Change: S103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043416 Gene: ENSMUSG00000033383 AA Change: S103P
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,822,316 (GRCm39) |
V10A |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
Dapk3 |
T |
C |
10: 81,025,999 (GRCm39) |
S97P |
probably benign |
Het |
Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
Psd |
T |
C |
19: 46,308,098 (GRCm39) |
H667R |
possibly damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
Tyw1 |
G |
T |
5: 130,295,921 (GRCm39) |
G116V |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
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 |
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 |
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 |