Incidental Mutation 'IGL02948:Slc28a2'
ID 364819
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL02948
Quality Score
Status
Chromosome 2
Chromosomal Location 122256958-122291618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122288458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 583 (M583K)
Ref Sequence ENSEMBL: ENSMUSP00000106154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028652] [ENSMUST00000110524] [ENSMUST00000110525]
AlphaFold O88627
Predicted Effect possibly damaging
Transcript: ENSMUST00000028652
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: M583K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000110524
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: M583K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000110525
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: M583K

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Slc28a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-12-18