Incidental Mutation 'R3697:Rtp3'
| ID |
269861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtp3
|
| Ensembl Gene |
ENSMUSG00000066319 |
| Gene Name |
receptor transporter protein 3 |
| Synonyms |
Tmem7 |
| MMRRC Submission |
040691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R3697 (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 A
at 110816262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 96
(R96S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000084922
AA Change: R96S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: R96S
| 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: R96S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: R96S
| 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: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,366,157 (GRCm39) |
D805G |
probably benign |
Het |
| Cnmd |
C |
A |
14: 79,875,421 (GRCm39) |
R333L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,518,958 (GRCm39) |
I79N |
unknown |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Gls |
C |
T |
1: 52,238,923 (GRCm39) |
M364I |
possibly damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,736 (GRCm39) |
|
noncoding transcript |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,953,551 (GRCm39) |
T233A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 152,028,073 (GRCm39) |
N152S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,647,469 (GRCm39) |
F728L |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,507 (GRCm39) |
N57K |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,165,646 (GRCm39) |
N197S |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,481 (GRCm39) |
C244S |
probably damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Serpinb8 |
A |
T |
1: 107,534,876 (GRCm39) |
K316* |
probably null |
Het |
| Sp6 |
C |
A |
11: 96,912,580 (GRCm39) |
P98T |
possibly damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,321 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vmn1r216 |
G |
A |
13: 23,283,849 (GRCm39) |
W177* |
probably null |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
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 |
|
|
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'- ACAGTTGCTGCTGTCATGTG -3'
(R):5'- AGAGGGGTCATTTGCTTCTCTC -3'
Sequencing Primer
(F):5'- TCATGTGGCCCTTCGAGACTG -3'
(R):5'- AGAAACTCCTTCTCCCTCTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation