Incidental Mutation 'R0981:Slc28a2'
| ID |
97120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc28a2
|
| Ensembl Gene |
ENSMUSG00000027219 |
| Gene Name |
solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 |
| Synonyms |
CNT2, 2010208B10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0981 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
122256958-122291618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122281465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 218
(V218D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028652]
[ENSMUST00000110524]
[ENSMUST00000110525]
|
| AlphaFold |
O88627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028652
AA Change: V218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: V218D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
253 |
1.5e-28 |
PFAM |
|
Pfam:Gate
|
260 |
360 |
7.9e-11 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
587 |
1e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110524
AA Change: V218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: V218D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
254 |
8.6e-26 |
PFAM |
|
Pfam:Gate
|
260 |
387 |
2.5e-9 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
588 |
5.1e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110525
AA Change: V218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: V218D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
254 |
8.6e-26 |
PFAM |
|
Pfam:Gate
|
260 |
387 |
2.5e-9 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
588 |
5.1e-74 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
possibly damaging |
Het |
|
| Other mutations in Slc28a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Slc28a2
|
APN |
2 |
122,282,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Slc28a2
|
APN |
2 |
122,282,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01559:Slc28a2
|
APN |
2 |
122,285,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Slc28a2
|
APN |
2 |
122,285,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02503:Slc28a2
|
APN |
2 |
122,288,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02576:Slc28a2
|
APN |
2 |
122,288,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02948:Slc28a2
|
APN |
2 |
122,288,458 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03006:Slc28a2
|
APN |
2 |
122,283,019 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03061:Slc28a2
|
APN |
2 |
122,284,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Slc28a2
|
UTSW |
2 |
122,282,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Slc28a2
|
UTSW |
2 |
122,285,008 (GRCm39) |
missense |
probably benign |
|
|
R0240:Slc28a2
|
UTSW |
2 |
122,285,008 (GRCm39) |
missense |
probably benign |
|
|
R0427:Slc28a2
|
UTSW |
2 |
122,288,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0502:Slc28a2
|
UTSW |
2 |
122,288,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1229:Slc28a2
|
UTSW |
2 |
122,291,012 (GRCm39) |
nonsense |
probably null |
|
|
R1397:Slc28a2
|
UTSW |
2 |
122,291,012 (GRCm39) |
nonsense |
probably null |
|
|
R1641:Slc28a2
|
UTSW |
2 |
122,286,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Slc28a2
|
UTSW |
2 |
122,281,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Slc28a2
|
UTSW |
2 |
122,280,239 (GRCm39) |
splice site |
probably benign |
|
|
R1765:Slc28a2
|
UTSW |
2 |
122,290,876 (GRCm39) |
splice site |
probably null |
|
|
R1955:Slc28a2
|
UTSW |
2 |
122,278,347 (GRCm39) |
missense |
probably benign |
|
|
R1996:Slc28a2
|
UTSW |
2 |
122,286,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Slc28a2
|
UTSW |
2 |
122,272,259 (GRCm39) |
nonsense |
probably null |
|
|
R2300:Slc28a2
|
UTSW |
2 |
122,272,259 (GRCm39) |
nonsense |
probably null |
|
|
R2510:Slc28a2
|
UTSW |
2 |
122,281,497 (GRCm39) |
nonsense |
probably null |
|
|
R4038:Slc28a2
|
UTSW |
2 |
122,284,996 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4893:Slc28a2
|
UTSW |
2 |
122,285,697 (GRCm39) |
splice site |
probably null |
|
|
R5011:Slc28a2
|
UTSW |
2 |
122,288,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5013:Slc28a2
|
UTSW |
2 |
122,288,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5185:Slc28a2
|
UTSW |
2 |
122,288,675 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6317:Slc28a2
|
UTSW |
2 |
122,284,980 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7181:Slc28a2
|
UTSW |
2 |
122,282,462 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8147:Slc28a2
|
UTSW |
2 |
122,288,682 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8528:Slc28a2
|
UTSW |
2 |
122,286,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8848:Slc28a2
|
UTSW |
2 |
122,290,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9352:Slc28a2
|
UTSW |
2 |
122,281,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGTTACCACCCTCACTGAGC -3'
(R):5'- AGCCATGTCCCAAAAGTTGGTCAC -3'
Sequencing Primer
(F):5'- TCACTGAGCCCCACTCC -3'
(R):5'- TTGGTCACGAAATGACAGACTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation