Incidental Mutation 'IGL02576:Slc28a2'
ID299221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc28a2
Ensembl Gene ENSMUSG00000027219
Gene Namesolute carrier family 28 (sodium-coupled nucleoside transporter), member 2
SynonymsCNT2, 2010208B10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02576
Quality Score
Status
Chromosome2
Chromosomal Location122426477-122461137 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122458171 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 586 (I586T)
Ref Sequence ENSEMBL: ENSMUSP00000106154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028652] [ENSMUST00000110524] [ENSMUST00000110525]
Predicted Effect probably damaging
Transcript: ENSMUST00000028652
AA Change: I586T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: I586T

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 probably damaging
Transcript: ENSMUST00000110524
AA Change: I586T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: I586T

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 probably damaging
Transcript: ENSMUST00000110525
AA Change: I586T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: I586T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,433,455 I232M probably benign Het
Ace G A 11: 105,974,111 V537M probably damaging Het
Alg1 A G 16: 5,244,529 E425G possibly damaging Het
Cacng3 G A 7: 122,671,910 S46N probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap65 A G 1: 74,903,458 S1646P probably damaging Het
Col20a1 C T 2: 181,013,405 Q1152* probably null Het
D130043K22Rik A C 13: 24,856,870 T92P possibly damaging Het
Drc3 T C 11: 60,370,551 M176T probably benign Het
Esyt3 T C 9: 99,315,225 R851G probably benign Het
Fbxo43 A G 15: 36,152,175 V496A probably benign Het
Fut4 T A 9: 14,751,405 M198L probably damaging Het
Galt C T 4: 41,755,953 probably benign Het
Glipr1l1 A G 10: 112,060,319 K4E possibly damaging Het
Gm9945 A G 11: 53,480,351 probably benign Het
Hspa12a A C 19: 58,799,410 I660R possibly damaging Het
Htr3b T C 9: 48,945,504 I225V possibly damaging Het
Igf2r T C 17: 12,748,763 D23G possibly damaging Het
Igsf5 A G 16: 96,386,581 I158V probably benign Het
Itgae A G 11: 73,118,505 Y505C possibly damaging Het
Kif16b A G 2: 142,862,545 probably benign Het
Kif26b T C 1: 178,916,347 V1336A probably benign Het
Kmt2d A G 15: 98,864,120 S450P unknown Het
Lexm T C 4: 106,591,628 D411G possibly damaging Het
Lhfpl2 G A 13: 94,174,226 M1I probably null Het
Lig4 A G 8: 9,971,116 I888T probably damaging Het
Msh4 G A 3: 153,867,746 T563M probably damaging Het
Muc5ac C T 7: 141,817,044 A3238V probably benign Het
Myo15b A G 11: 115,890,053 S1246G probably null Het
Olfr193 T C 16: 59,109,771 I280V probably benign Het
Pecam1 G A 11: 106,671,774 T599M probably damaging Het
Phf3 G A 1: 30,830,036 P644S probably benign Het
Pkd1l1 A C 11: 8,844,560 F2317C possibly damaging Het
Prdm4 A G 10: 85,900,937 M613T possibly damaging Het
Prim2 A T 1: 33,484,717 I371N probably damaging Het
Ptprs T C 17: 56,414,958 D1316G probably damaging Het
Rnf19b C T 4: 129,073,522 R285* probably null Het
Secisbp2 A G 13: 51,670,858 N381D possibly damaging Het
Spef1 T C 2: 131,174,642 H11R possibly damaging Het
Taar4 T C 10: 23,961,011 L173S probably damaging Het
Tas2r123 T C 6: 132,847,740 F200S possibly damaging Het
Tex16 T A X: 112,118,956 L384Q probably benign Het
Tox2 A G 2: 163,276,180 Q168R probably damaging Het
Trim5 T A 7: 104,278,417 E172V probably damaging Het
Txndc11 G A 16: 11,075,017 probably benign Het
Vmn1r232 T A 17: 20,913,913 I142F probably benign Het
Zdhhc25 A T 15: 88,601,269 H269L probably benign Het
Znrf4 T C 17: 56,512,199 D36G probably damaging Het
Other mutations in Slc28a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Slc28a2 APN 2 122452057 missense probably damaging 1.00
IGL01404:Slc28a2 APN 2 122452057 missense probably damaging 1.00
IGL01559:Slc28a2 APN 2 122454540 missense probably damaging 1.00
IGL02016:Slc28a2 APN 2 122455341 missense probably benign 0.01
IGL02503:Slc28a2 APN 2 122458212 missense probably benign 0.00
IGL02948:Slc28a2 APN 2 122457977 missense possibly damaging 0.70
IGL03006:Slc28a2 APN 2 122452538 missense possibly damaging 0.65
IGL03061:Slc28a2 APN 2 122454499 missense probably damaging 1.00
R0028:Slc28a2 UTSW 2 122451602 missense probably damaging 1.00
R0240:Slc28a2 UTSW 2 122454527 missense probably benign
R0240:Slc28a2 UTSW 2 122454527 missense probably benign
R0427:Slc28a2 UTSW 2 122458221 missense probably benign 0.02
R0502:Slc28a2 UTSW 2 122458281 critical splice donor site probably null
R0981:Slc28a2 UTSW 2 122450984 missense probably damaging 1.00
R1229:Slc28a2 UTSW 2 122460531 nonsense probably null
R1397:Slc28a2 UTSW 2 122460531 nonsense probably null
R1641:Slc28a2 UTSW 2 122455617 missense probably damaging 1.00
R1713:Slc28a2 UTSW 2 122451013 missense probably damaging 1.00
R1732:Slc28a2 UTSW 2 122449758 splice site probably benign
R1765:Slc28a2 UTSW 2 122460395 intron probably null
R1955:Slc28a2 UTSW 2 122447866 missense probably benign
R1996:Slc28a2 UTSW 2 122455562 missense probably damaging 1.00
R2299:Slc28a2 UTSW 2 122441778 nonsense probably null
R2300:Slc28a2 UTSW 2 122441778 nonsense probably null
R2510:Slc28a2 UTSW 2 122451016 nonsense probably null
R4038:Slc28a2 UTSW 2 122454515 missense probably benign 0.03
R4893:Slc28a2 UTSW 2 122455216 intron probably null
R5011:Slc28a2 UTSW 2 122457890 missense possibly damaging 0.94
R5013:Slc28a2 UTSW 2 122457890 missense possibly damaging 0.94
R5185:Slc28a2 UTSW 2 122458194 missense probably benign 0.04
R6317:Slc28a2 UTSW 2 122454499 missense possibly damaging 0.77
R7181:Slc28a2 UTSW 2 122451981 critical splice acceptor site probably null
Posted On2015-04-16