Incidental Mutation 'R4038:Slc28a2'
| ID |
313782 |
| 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 |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122256958-122291618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 122284996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 328
(A328E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028652]
[ENSMUST00000110524]
[ENSMUST00000110525]
|
| AlphaFold |
O88627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028652
AA Change: A328E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: A328E
| 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 benign
Transcript: ENSMUST00000110524
AA Change: A328E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: A328E
| 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 benign
Transcript: ENSMUST00000110525
AA Change: A328E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: A328E
| 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: ENSMUST00000153848
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
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 |
|
|
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 |
|
|
R2300:Slc28a2
|
UTSW |
2 |
122,272,259 (GRCm39) |
nonsense |
probably null |
|
|
R2510:Slc28a2
|
UTSW |
2 |
122,281,497 (GRCm39) |
nonsense |
probably null |
|
|
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'- CACGTGAAAACAGGACCTCATG -3'
(R):5'- AGCCATCACTGAGGCAGAAATC -3'
Sequencing Primer
(F):5'- CAGGACCTCATGGAGATGGTTG -3'
(R):5'- GGATGATGCATCAATCTGTAAAGCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation