Incidental Mutation 'R6545:Rtp3'
| ID |
521114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtp3
|
| Ensembl Gene |
ENSMUSG00000066319 |
| Gene Name |
receptor transporter protein 3 |
| Synonyms |
Tmem7 |
| MMRRC Submission |
044671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110814003-110818781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110815894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 219
(V219A)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
| 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 |
possibly damaging
Transcript: ENSMUST00000199891
AA Change: V219A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: V219A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
C |
T |
4: 126,348,145 (GRCm39) |
A58T |
possibly damaging |
Het |
| Ago4 |
T |
A |
4: 126,405,811 (GRCm39) |
Q366L |
probably benign |
Het |
| Card10 |
C |
A |
15: 78,661,010 (GRCm39) |
G950V |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,173,279 (GRCm39) |
V303D |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,672,319 (GRCm39) |
R2917H |
probably benign |
Het |
| Cit |
A |
G |
5: 115,984,493 (GRCm39) |
S22G |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,577 (GRCm39) |
E666G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,140,659 (GRCm39) |
D1103G |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,405,278 (GRCm39) |
|
probably null |
Het |
| Dctn3 |
T |
C |
4: 41,723,084 (GRCm39) |
E16G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,021,715 (GRCm39) |
S3536P |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,948 (GRCm39) |
I675N |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,477,995 (GRCm39) |
F531S |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,257,652 (GRCm39) |
R697G |
possibly damaging |
Het |
| Gm3173 |
T |
A |
14: 15,728,395 (GRCm39) |
M18K |
possibly damaging |
Het |
| Gm5800 |
A |
T |
14: 51,949,419 (GRCm39) |
S175R |
possibly damaging |
Het |
| Gria2 |
T |
C |
3: 80,648,451 (GRCm39) |
K95R |
probably damaging |
Het |
| Gstm6 |
A |
G |
3: 107,849,681 (GRCm39) |
I76T |
probably damaging |
Het |
| Harbi1 |
T |
G |
2: 91,542,640 (GRCm39) |
Y34D |
probably damaging |
Het |
| Hectd2 |
C |
A |
19: 36,564,778 (GRCm39) |
Q20K |
probably benign |
Het |
| Inpp5f |
C |
A |
7: 128,296,280 (GRCm39) |
A250D |
possibly damaging |
Het |
| Irf9 |
T |
C |
14: 55,842,684 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgam |
T |
A |
7: 127,707,044 (GRCm39) |
M625K |
probably damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,054,432 (GRCm39) |
R504Q |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,052,793 (GRCm39) |
T1389A |
probably benign |
Het |
| Lin54 |
T |
A |
5: 100,632,996 (GRCm39) |
|
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,740,042 (GRCm39) |
D171G |
possibly damaging |
Het |
| Mgll |
A |
G |
6: 88,802,685 (GRCm39) |
N296S |
probably benign |
Het |
| Mpv17 |
T |
A |
5: 31,302,041 (GRCm39) |
|
probably benign |
Het |
| Myof |
A |
T |
19: 37,930,745 (GRCm39) |
M1001K |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,389,300 (GRCm39) |
Q850L |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,662 (GRCm39) |
N40K |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,217,781 (GRCm39) |
I328V |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,493,685 (GRCm39) |
P311S |
possibly damaging |
Het |
| Prss34 |
A |
T |
17: 25,517,809 (GRCm39) |
R61S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,840,237 (GRCm39) |
M280K |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,959,323 (GRCm39) |
H47R |
probably benign |
Het |
| Smarcc2 |
T |
C |
10: 128,319,997 (GRCm39) |
I790T |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,296,614 (GRCm39) |
T491A |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,108,621 (GRCm39) |
H2007Y |
probably benign |
Het |
| Togaram1 |
T |
G |
12: 65,024,981 (GRCm39) |
C750G |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,806 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,777 (GRCm39) |
D401E |
possibly damaging |
Het |
| Wdr97 |
C |
T |
15: 76,247,578 (GRCm39) |
R1585C |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,141,881 (GRCm39) |
D45E |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,709 (GRCm39) |
Y313N |
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 |
|
R1282:Rtp3
|
UTSW |
9 |
110,815,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Posted On |
2018-06-06 |
Incidental Mutation