Incidental Mutation 'R2295:Svopl'
ID |
245137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Svopl
|
Ensembl Gene |
ENSMUSG00000029830 |
Gene Name |
SV2 related protein homolog (rat)-like |
Synonyms |
9430071P14Rik |
MMRRC Submission |
040294-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2295 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
37960674-38023931 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 37996668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 270
(A270S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096040]
|
AlphaFold |
Q6PDF3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000040486
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096040
AA Change: A270S
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093743 Gene: ENSMUSG00000029830 AA Change: A270S
Domain | Start | End | E-Value | Type |
Pfam:Sugar_tr
|
17 |
297 |
5.5e-20 |
PFAM |
Pfam:MFS_1
|
50 |
308 |
2.1e-20 |
PFAM |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
transmembrane domain
|
384 |
406 |
N/A |
INTRINSIC |
transmembrane domain
|
459 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172585
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173428
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200796
|
Meta Mutation Damage Score |
0.1029 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
|
Other mutations in Svopl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Svopl
|
APN |
6 |
38,007,952 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01531:Svopl
|
APN |
6 |
38,003,876 (GRCm39) |
splice site |
probably benign |
|
IGL02161:Svopl
|
APN |
6 |
38,013,750 (GRCm39) |
splice site |
probably benign |
|
IGL02554:Svopl
|
APN |
6 |
37,993,978 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03249:Svopl
|
APN |
6 |
37,993,988 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4434001:Svopl
|
UTSW |
6 |
37,991,801 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0285:Svopl
|
UTSW |
6 |
37,961,457 (GRCm39) |
missense |
probably benign |
0.02 |
R0423:Svopl
|
UTSW |
6 |
38,013,642 (GRCm39) |
splice site |
probably benign |
|
R0692:Svopl
|
UTSW |
6 |
37,994,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R0960:Svopl
|
UTSW |
6 |
37,993,992 (GRCm39) |
nonsense |
probably null |
|
R1163:Svopl
|
UTSW |
6 |
38,006,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1526:Svopl
|
UTSW |
6 |
38,006,570 (GRCm39) |
missense |
probably benign |
0.03 |
R2302:Svopl
|
UTSW |
6 |
38,018,101 (GRCm39) |
splice site |
probably benign |
|
R5933:Svopl
|
UTSW |
6 |
37,993,949 (GRCm39) |
splice site |
probably benign |
|
R6367:Svopl
|
UTSW |
6 |
37,996,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6595:Svopl
|
UTSW |
6 |
38,018,002 (GRCm39) |
splice site |
probably null |
|
R6903:Svopl
|
UTSW |
6 |
37,998,543 (GRCm39) |
missense |
probably benign |
0.00 |
R7980:Svopl
|
UTSW |
6 |
37,991,744 (GRCm39) |
missense |
probably damaging |
0.98 |
R8167:Svopl
|
UTSW |
6 |
37,993,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R8218:Svopl
|
UTSW |
6 |
37,991,741 (GRCm39) |
missense |
probably benign |
|
R9046:Svopl
|
UTSW |
6 |
37,998,531 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Svopl
|
UTSW |
6 |
38,006,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTATCCTCCAAATACCTGTTTG -3'
(R):5'- AACACATCAGTCTTTTGGGTTTGG -3'
Sequencing Primer
(F):5'- GTCCAGGAATTCACTATGTAGCCAG -3'
(R):5'- GTGGGGAAAGGGCCTCCTAAC -3'
|
Posted On |
2014-10-30 |