Incidental Mutation 'R1641:Slc28a2'
ID 173517
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 039677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1641 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122256958-122291618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122286098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 478 (D478G)
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: D478G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: D478G

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: D478G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: D478G

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: D478G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: D478G

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,039,626 (GRCm39) T228S probably benign Het
Adamts2 C T 11: 50,683,612 (GRCm39) P965S probably damaging Het
Ankrd11 A G 8: 123,618,485 (GRCm39) I1768T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Baz2b A T 2: 59,743,234 (GRCm39) L1579Q probably damaging Het
Btbd7 A G 12: 102,757,034 (GRCm39) V684A probably damaging Het
Camk1g T A 1: 193,038,665 (GRCm39) I86F probably benign Het
Capn13 A T 17: 73,689,889 (GRCm39) S41T possibly damaging Het
Cep192 C A 18: 67,980,504 (GRCm39) L1422I probably damaging Het
Chaf1a T C 17: 56,354,380 (GRCm39) F217L unknown Het
Clca3b A T 3: 144,529,274 (GRCm39) M800K possibly damaging Het
Cplane1 A G 15: 8,258,443 (GRCm39) T2230A probably benign Het
Crocc A G 4: 140,744,388 (GRCm39) V1836A probably benign Het
Csmd2 G A 4: 128,377,188 (GRCm39) V2023M possibly damaging Het
Cul9 A G 17: 46,854,486 (GRCm39) V72A possibly damaging Het
Ddx52 T C 11: 83,834,269 (GRCm39) probably null Het
Dennd5b A C 6: 148,969,703 (GRCm39) V250G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gtpbp4 A T 13: 9,023,285 (GRCm39) M593K probably benign Het
Il21 A G 3: 37,286,681 (GRCm39) F12L probably benign Het
Lrit2 T A 14: 36,791,105 (GRCm39) N261K probably benign Het
Lrrc39 G T 3: 116,364,562 (GRCm39) C151F probably damaging Het
Lsm14a C A 7: 34,050,799 (GRCm39) R426L probably damaging Het
Maml1 G A 11: 50,157,774 (GRCm39) P134S probably benign Het
Map3k13 T C 16: 21,722,542 (GRCm39) C235R probably damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nsmaf T C 4: 6,409,884 (GRCm39) E663G probably benign Het
Ntrk3 T C 7: 78,005,822 (GRCm39) N513S probably damaging Het
Nufip1 T G 14: 76,363,692 (GRCm39) N305K possibly damaging Het
Or10al5 C T 17: 38,062,916 (GRCm39) T57I possibly damaging Het
Or2ag1b T A 7: 106,288,918 (GRCm39) T7S probably benign Het
Or4c10b A T 2: 89,711,745 (GRCm39) T192S probably benign Het
Or51a6 T A 7: 102,604,175 (GRCm39) D218V probably benign Het
Or9r3 A T 10: 129,947,872 (GRCm39) Y262* probably null Het
Pi4ka A G 16: 17,194,894 (GRCm39) V168A probably benign Het
Prex2 T C 1: 11,301,996 (GRCm39) V1433A probably damaging Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Prr3 G A 17: 36,285,484 (GRCm39) R86* probably null Het
Ptprz1 T C 6: 23,049,605 (GRCm39) F1350L probably damaging Het
R3hcc1l T C 19: 42,552,046 (GRCm39) S348P possibly damaging Het
Rag2 A T 2: 101,459,960 (GRCm39) Q90L probably benign Het
Scel T C 14: 103,770,752 (GRCm39) L62P probably damaging Het
Serpini1 A T 3: 75,521,977 (GRCm39) E156V possibly damaging Het
Skint4 T A 4: 111,993,240 (GRCm39) I321K possibly damaging Het
Sppl2b G T 10: 80,700,965 (GRCm39) V164F probably damaging Het
Traf5 T A 1: 191,729,470 (GRCm39) N527I probably benign Het
Ttc3 T A 16: 94,244,176 (GRCm39) D17E probably benign Het
Txlnb G A 10: 17,682,521 (GRCm39) A148T possibly damaging Het
Ubtf A G 11: 102,201,757 (GRCm39) Y256H probably damaging Het
Usp25 T C 16: 76,868,559 (GRCm39) F320S possibly damaging Het
Utp14b T C 1: 78,643,656 (GRCm39) V518A probably benign Het
Utp20 A G 10: 88,593,834 (GRCm39) V2192A possibly damaging Het
Vmn1r173 T A 7: 23,402,533 (GRCm39) M256K probably benign Het
Vmn2r114 T A 17: 23,515,962 (GRCm39) M510L probably benign Het
Xdh T A 17: 74,233,547 (GRCm39) Q189L probably benign Het
Zfat C T 15: 68,051,959 (GRCm39) A605T 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGCCAACCTGATTGCCTTTC -3'
(R):5'- AGATATGCCTGGCCCAAACCTCTC -3'

Sequencing Primer
(F):5'- CATGGACTCAGTTTCCAGGTAAAG -3'
(R):5'- TCGCTCTGTAATTCGCTGG -3'
Posted On 2014-04-24