Incidental Mutation 'IGL01559:Slc28a2'
ID 90788
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 # IGL01559
Quality Score
Status
Chromosome 2
Chromosomal Location 122256958-122291618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122285021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 336 (H336Q)
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: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: H336Q

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: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: H336Q

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: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: H336Q

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,259,020 (GRCm39) N2915K possibly damaging Het
Abca5 T C 11: 110,163,352 (GRCm39) N1621S probably benign Het
Asb18 G A 1: 89,882,172 (GRCm39) S122F probably damaging Het
Atg4c A G 4: 99,106,440 (GRCm39) probably benign Het
Bbs7 T C 3: 36,648,659 (GRCm39) Y363C probably damaging Het
Celsr2 T C 3: 108,314,183 (GRCm39) T1281A possibly damaging Het
Cers1 A G 8: 70,775,883 (GRCm39) N295S probably damaging Het
Csn1s2b A T 5: 87,968,810 (GRCm39) K80* probably null Het
Dennd6a A G 14: 26,329,720 (GRCm39) D97G probably damaging Het
Dmxl1 A G 18: 50,054,005 (GRCm39) Y2537C probably damaging Het
Dnah6 A G 6: 73,001,235 (GRCm39) probably null Het
Exoc4 A G 6: 33,243,011 (GRCm39) T75A probably damaging Het
Fbll1 T C 11: 35,688,372 (GRCm39) E297G probably damaging Het
Gm10642 T A 9: 70,563,874 (GRCm39) D152V probably damaging Het
Hdac3 A G 18: 38,076,725 (GRCm39) probably benign Het
Kif17 A G 4: 138,021,080 (GRCm39) I850V probably damaging Het
Or2l13 T C 16: 19,306,209 (GRCm39) L207P probably benign Het
Pi4kb T A 3: 94,891,440 (GRCm39) L52Q probably benign Het
Sec14l1 C A 11: 117,034,110 (GRCm39) probably null Het
Usp17lb A G 7: 104,490,436 (GRCm39) S164P probably damaging 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
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
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 2013-12-09