Incidental Mutation 'R1282:Rtp3'
ID |
151064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rtp3
|
Ensembl Gene |
ENSMUSG00000066319 |
Gene Name |
receptor transporter protein 3 |
Synonyms |
Tmem7 |
MMRRC Submission |
039348-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R1282 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110814003-110818781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110815988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 188
(K188E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035076]
[ENSMUST00000084922]
[ENSMUST00000198702]
[ENSMUST00000199891]
|
AlphaFold |
Q5QGU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035076
|
SMART Domains |
Protein: ENSMUSP00000035076 Gene: ENSMUSG00000032495
Domain | Start | End | E-Value | Type |
Blast:LRR
|
143 |
165 |
5e-7 |
BLAST |
LRR_TYP
|
166 |
189 |
4.87e-4 |
SMART |
LRR
|
236 |
258 |
1.41e1 |
SMART |
LRR
|
259 |
282 |
2.27e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084922
AA Change: K188E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000081985 Gene: ENSMUSG00000066319 AA Change: K188E
Domain | Start | End | E-Value | Type |
zf-3CxxC
|
52 |
164 |
2.13e-52 |
SMART |
low complexity region
|
356 |
404 |
N/A |
INTRINSIC |
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185439
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197321
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198702
|
SMART Domains |
Protein: ENSMUSP00000143100 Gene: ENSMUSG00000066319
Domain | Start | End | E-Value | Type |
Pfam:zf-3CxxC
|
52 |
81 |
2.5e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199891
AA Change: K188E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143305 Gene: ENSMUSG00000066319 AA Change: K188E
Domain | Start | End | E-Value | Type |
zf-3CxxC
|
52 |
164 |
2.13e-52 |
SMART |
low complexity region
|
356 |
404 |
N/A |
INTRINSIC |
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
Other mutations in Rtp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00329:Rtp3
|
APN |
9 |
110,815,666 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02212:Rtp3
|
APN |
9 |
110,816,389 (GRCm39) |
splice site |
probably benign |
|
IGL03033:Rtp3
|
APN |
9 |
110,815,162 (GRCm39) |
unclassified |
probably benign |
|
R0392:Rtp3
|
UTSW |
9 |
110,818,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R0529:Rtp3
|
UTSW |
9 |
110,816,152 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0645:Rtp3
|
UTSW |
9 |
110,816,168 (GRCm39) |
missense |
probably damaging |
0.97 |
R1609:Rtp3
|
UTSW |
9 |
110,815,085 (GRCm39) |
unclassified |
probably benign |
|
R1649:Rtp3
|
UTSW |
9 |
110,815,772 (GRCm39) |
missense |
probably benign |
0.00 |
R1662:Rtp3
|
UTSW |
9 |
110,815,751 (GRCm39) |
missense |
probably benign |
0.23 |
R2011:Rtp3
|
UTSW |
9 |
110,815,102 (GRCm39) |
unclassified |
probably benign |
|
R3697:Rtp3
|
UTSW |
9 |
110,816,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4661:Rtp3
|
UTSW |
9 |
110,815,519 (GRCm39) |
splice site |
probably null |
|
R4707:Rtp3
|
UTSW |
9 |
110,815,279 (GRCm39) |
unclassified |
probably benign |
|
R4764:Rtp3
|
UTSW |
9 |
110,816,418 (GRCm39) |
intron |
probably benign |
|
R4796:Rtp3
|
UTSW |
9 |
110,815,522 (GRCm39) |
missense |
probably benign |
0.00 |
R4839:Rtp3
|
UTSW |
9 |
110,818,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5262:Rtp3
|
UTSW |
9 |
110,815,195 (GRCm39) |
unclassified |
probably benign |
|
R5886:Rtp3
|
UTSW |
9 |
110,816,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Rtp3
|
UTSW |
9 |
110,815,760 (GRCm39) |
missense |
probably benign |
0.04 |
R6089:Rtp3
|
UTSW |
9 |
110,816,041 (GRCm39) |
missense |
probably benign |
0.00 |
R6545:Rtp3
|
UTSW |
9 |
110,815,894 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6812:Rtp3
|
UTSW |
9 |
110,816,180 (GRCm39) |
missense |
probably benign |
0.14 |
R6895:Rtp3
|
UTSW |
9 |
110,816,264 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7023:Rtp3
|
UTSW |
9 |
110,815,714 (GRCm39) |
missense |
probably benign |
0.00 |
R7113:Rtp3
|
UTSW |
9 |
110,815,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R7167:Rtp3
|
UTSW |
9 |
110,815,772 (GRCm39) |
missense |
probably benign |
0.01 |
R7171:Rtp3
|
UTSW |
9 |
110,815,009 (GRCm39) |
missense |
unknown |
|
R7359:Rtp3
|
UTSW |
9 |
110,815,364 (GRCm39) |
missense |
probably benign |
0.33 |
R7721:Rtp3
|
UTSW |
9 |
110,814,948 (GRCm39) |
nonsense |
probably null |
|
R9402:Rtp3
|
UTSW |
9 |
110,815,031 (GRCm39) |
missense |
unknown |
|
R9600:Rtp3
|
UTSW |
9 |
110,815,198 (GRCm39) |
missense |
unknown |
|
R9623:Rtp3
|
UTSW |
9 |
110,818,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R9648:Rtp3
|
UTSW |
9 |
110,815,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGCTGCTCTGCTGCCG -3'
(R):5'- TGGGTGAGATTCCTTTGCTAGGGAAC -3'
Sequencing Primer
(F):5'- ATTACTGGTTTGGGGGTTCAC -3'
(R):5'- TTTGCTAGGGAACACCAGTC -3'
|
Posted On |
2014-01-29 |