Incidental Mutation 'R6895:Rtp3'
| ID |
538291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtp3
|
| Ensembl Gene |
ENSMUSG00000066319 |
| Gene Name |
receptor transporter protein 3 |
| Synonyms |
Tmem7 |
| MMRRC Submission |
044989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6895 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110814003-110818781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110816264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 96
(R96G)
|
| 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: R96G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: R96G
| 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 |
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: R96G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: R96G
| 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: 97.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
| C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
| Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
| Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
| Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
| Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
| Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
| Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
| Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
| Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
| Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
| Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
| Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
| Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
| Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
| Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
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 |
|
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 |
|
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'- CACAGTTGCTGCTGTCATGTG -3'
(R):5'- AGAGGGGTCATTTGCTTCTCTC -3'
Sequencing Primer
(F):5'- TCATGTGGCCCTTCGAGACTG -3'
(R):5'- AGAAACTCCTTCTCCCTCTGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation