Incidental Mutation 'IGL01559:Slc28a2'
ID90788
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: 0.075) question?
Stock #IGL01559
Quality Score
Status
Chromosome2
Chromosomal Location122426477-122461137 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122454540 bp
ZygosityHeterozygous
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]
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: 9,309,020 N2915K possibly damaging Het
Abca5 T C 11: 110,272,526 N1621S probably benign Het
Asb18 G A 1: 89,954,450 S122F probably damaging Het
Atg4c A G 4: 99,218,203 probably benign Het
Bbs7 T C 3: 36,594,510 Y363C probably damaging Het
Celsr2 T C 3: 108,406,867 T1281A possibly damaging Het
Cers1 A G 8: 70,323,233 N295S probably damaging Het
Csn1s2b A T 5: 87,820,951 K80* probably null Het
Dennd6a A G 14: 26,608,565 D97G probably damaging Het
Dmxl1 A G 18: 49,920,938 Y2537C probably damaging Het
Dnah6 A G 6: 73,024,252 probably null Het
Exoc4 A G 6: 33,266,076 T75A probably damaging Het
Fbll1 T C 11: 35,797,545 E297G probably damaging Het
Gm10642 T A 9: 70,656,592 D152V probably damaging Het
Hdac3 A G 18: 37,943,672 probably benign Het
Kif17 A G 4: 138,293,769 I850V probably damaging Het
Olfr166 T C 16: 19,487,459 L207P probably benign Het
Pi4kb T A 3: 94,984,129 L52Q probably benign Het
Sec14l1 C A 11: 117,143,284 probably null Het
Usp17lb A G 7: 104,841,229 S164P 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
IGL02016:Slc28a2 APN 2 122455341 missense probably benign 0.01
IGL02503:Slc28a2 APN 2 122458212 missense probably benign 0.00
IGL02576:Slc28a2 APN 2 122458171 missense probably damaging 0.99
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 splice site 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 splice site 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
R8147:Slc28a2 UTSW 2 122458201 missense probably benign 0.04
Posted On2013-12-09