Incidental Mutation 'R2300:Slc28a2'
| ID |
245294 |
| 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 |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
122256958-122291618 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 122272259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 34
(Q34*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028652]
[ENSMUST00000110524]
[ENSMUST00000110525]
|
| AlphaFold |
O88627 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028652
AA Change: Q34*
|
| SMART Domains |
Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: Q34*
| 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 null
Transcript: ENSMUST00000110524
AA Change: Q34*
|
| SMART Domains |
Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: Q34*
| 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 null
Transcript: ENSMUST00000110525
AA Change: Q34*
|
| SMART Domains |
Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: Q34*
| 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 |
noncoding transcript
Transcript: ENSMUST00000139850
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,656,746 (GRCm39) |
E355* |
probably null |
Het |
| Aldh6a1 |
G |
T |
12: 84,486,303 (GRCm39) |
T205N |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,008,291 (GRCm39) |
I71V |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,299,887 (GRCm39) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,572 (GRCm39) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm39) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,525 (GRCm39) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm39) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,938,235 (GRCm39) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,987 (GRCm39) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,963,316 (GRCm39) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,392,784 (GRCm39) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,807 (GRCm39) |
|
probably benign |
Het |
| Nop16 |
A |
G |
13: 54,733,679 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,486,441 (GRCm39) |
Y155* |
probably null |
Het |
| Or5ak22 |
T |
C |
2: 85,230,476 (GRCm39) |
I134V |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,558,644 (GRCm39) |
D213G |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,626 (GRCm39) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,594,553 (GRCm39) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,130,783 (GRCm39) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,904 (GRCm39) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,737,792 (GRCm39) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,198,260 (GRCm39) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,107,093 (GRCm39) |
|
probably null |
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 |
|
|
R0981:Slc28a2
|
UTSW |
2 |
122,281,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CAGGCCACAGTGGAGAATTG -3'
(R):5'- CATGCTTATGTAGTAACATGCAGTG -3'
Sequencing Primer
(F):5'- CCACAGTGGAGAATTGCATGG -3'
(R):5'- TAACATGCAGTGATCCTGATGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation