Incidental Mutation 'R4096:Slc28a2b'
ID 317122
Institutional Source Beutler Lab
Gene Symbol Slc28a2b
Ensembl Gene ENSMUSG00000079071
Gene Name solute carrier family 28 member 2b
Synonyms Gm14085
MMRRC Submission 041629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4096 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122315422-122358521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122353209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 463 (Y463C)
Ref Sequence ENSEMBL: ENSMUSP00000106150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110521]
AlphaFold A2AWR5
Predicted Effect probably damaging
Transcript: ENSMUST00000110521
AA Change: Y463C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: Y463C

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 149 166 N/A INTRINSIC
Pfam:Nucleos_tra2_N 180 253 2.3e-28 PFAM
Pfam:Gate 260 360 1.7e-10 PFAM
Pfam:Nucleos_tra2_C 363 587 4.6e-70 PFAM
Meta Mutation Damage Score 0.7815 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,008 (GRCm39) D255G possibly damaging Het
4930407I10Rik G A 15: 81,946,406 (GRCm39) G101D probably benign Het
Angpt2 G A 8: 18,748,111 (GRCm39) A383V probably damaging Het
Cemip2 G T 19: 21,770,016 (GRCm39) M1I probably null Het
Ctns A G 11: 73,077,212 (GRCm39) M252T probably benign Het
Dmxl1 T A 18: 50,094,264 (GRCm39) H2913Q probably damaging Het
Enox1 C T 14: 77,815,160 (GRCm39) T106M probably damaging Het
Ext1 A T 15: 52,936,753 (GRCm39) V664E probably damaging Het
Fat4 A T 3: 38,942,024 (GRCm39) T306S possibly damaging Het
Fbxl5 T C 5: 43,915,583 (GRCm39) I610V probably benign Het
Glb1l T A 1: 75,186,084 (GRCm39) M1L probably benign Het
Hmcn1 T C 1: 150,534,259 (GRCm39) K3005R probably benign Het
Homer2 A G 7: 81,261,052 (GRCm39) probably null Het
Il36b C T 2: 24,048,826 (GRCm39) T77M possibly damaging Het
Kcnq3 C A 15: 66,157,664 (GRCm39) probably null Het
Mad1l1 C T 5: 140,293,428 (GRCm39) R130H probably benign Het
Man2b1 A G 8: 85,811,366 (GRCm39) E120G probably damaging Het
Mtus1 T C 8: 41,537,284 (GRCm39) D144G probably damaging Het
Oprk1 T A 1: 5,673,034 (GRCm39) probably benign Het
Or5m10 T C 2: 85,717,767 (GRCm39) S208P probably damaging Het
Or7g17 T C 9: 18,767,933 (GRCm39) I4T probably benign Het
Or9g3 T C 2: 85,590,040 (GRCm39) I227V possibly damaging Het
Rrp12 A G 19: 41,875,587 (GRCm39) I252T probably benign Het
Sbno1 A T 5: 124,529,983 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc10a4-ps A G 5: 72,743,709 (GRCm39) L3P probably damaging Het
Srpk2 A T 5: 23,745,500 (GRCm39) probably benign Het
Ube3b A G 5: 114,531,147 (GRCm39) T214A possibly damaging Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zpld1 C G 16: 55,053,881 (GRCm39) D304H probably damaging Het
Other mutations in Slc28a2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Slc28a2b APN 2 122,347,527 (GRCm39) missense probably damaging 0.98
IGL01160:Slc28a2b APN 2 122,355,277 (GRCm39) critical splice acceptor site probably null
IGL01838:Slc28a2b APN 2 122,348,464 (GRCm39) missense possibly damaging 0.65
IGL01895:Slc28a2b APN 2 122,355,572 (GRCm39) missense possibly damaging 0.75
IGL02999:Slc28a2b APN 2 122,344,995 (GRCm39) splice site probably benign
Wilted UTSW 2 122,353,963 (GRCm39) missense probably damaging 1.00
K2124:Slc28a2b UTSW 2 122,355,634 (GRCm39) missense probably benign 0.00
R0084:Slc28a2b UTSW 2 122,353,314 (GRCm39) missense possibly damaging 0.95
R0092:Slc28a2b UTSW 2 122,348,078 (GRCm39) splice site probably benign
R0127:Slc28a2b UTSW 2 122,347,550 (GRCm39) critical splice donor site probably null
R0200:Slc28a2b UTSW 2 122,357,928 (GRCm39) makesense probably null
R0276:Slc28a2b UTSW 2 122,352,409 (GRCm39) missense probably damaging 1.00
R0309:Slc28a2b UTSW 2 122,348,034 (GRCm39) missense probably benign 0.04
R0403:Slc28a2b UTSW 2 122,352,335 (GRCm39) missense probably damaging 1.00
R0600:Slc28a2b UTSW 2 122,344,879 (GRCm39) missense probably damaging 0.97
R0612:Slc28a2b UTSW 2 122,352,179 (GRCm39) missense probably damaging 1.00
R1676:Slc28a2b UTSW 2 122,352,340 (GRCm39) missense probably damaging 0.99
R1801:Slc28a2b UTSW 2 122,352,133 (GRCm39) missense possibly damaging 0.57
R1986:Slc28a2b UTSW 2 122,357,910 (GRCm39) missense probably benign 0.00
R2050:Slc28a2b UTSW 2 122,353,349 (GRCm39) missense probably benign 0.21
R3078:Slc28a2b UTSW 2 122,344,895 (GRCm39) missense possibly damaging 0.63
R4075:Slc28a2b UTSW 2 122,344,892 (GRCm39) missense probably benign 0.00
R4744:Slc28a2b UTSW 2 122,353,286 (GRCm39) nonsense probably null
R4796:Slc28a2b UTSW 2 122,344,940 (GRCm39) missense probably damaging 0.99
R5033:Slc28a2b UTSW 2 122,353,395 (GRCm39) critical splice donor site probably null
R5069:Slc28a2b UTSW 2 122,324,854 (GRCm39) missense possibly damaging 0.93
R5288:Slc28a2b UTSW 2 122,353,259 (GRCm39) missense probably benign 0.01
R5385:Slc28a2b UTSW 2 122,353,259 (GRCm39) missense probably benign 0.01
R5386:Slc28a2b UTSW 2 122,353,259 (GRCm39) missense probably benign 0.01
R5442:Slc28a2b UTSW 2 122,317,350 (GRCm39) missense probably benign
R5795:Slc28a2b UTSW 2 122,348,475 (GRCm39) missense possibly damaging 0.79
R6258:Slc28a2b UTSW 2 122,353,963 (GRCm39) missense probably damaging 1.00
R6260:Slc28a2b UTSW 2 122,353,963 (GRCm39) missense probably damaging 1.00
R6383:Slc28a2b UTSW 2 122,355,288 (GRCm39) missense probably benign 0.00
R7226:Slc28a2b UTSW 2 122,353,013 (GRCm39) missense probably benign 0.00
R7574:Slc28a2b UTSW 2 122,353,325 (GRCm39) missense not run
R7633:Slc28a2b UTSW 2 122,317,161 (GRCm39) missense probably null 0.05
R7705:Slc28a2b UTSW 2 122,352,110 (GRCm39) critical splice acceptor site probably null
R7726:Slc28a2b UTSW 2 122,317,214 (GRCm39) missense probably damaging 0.99
R7998:Slc28a2b UTSW 2 122,324,839 (GRCm39) missense probably damaging 0.97
R8269:Slc28a2b UTSW 2 122,352,169 (GRCm39) missense probably damaging 1.00
R8337:Slc28a2b UTSW 2 122,355,617 (GRCm39) missense probably benign 0.06
R8546:Slc28a2b UTSW 2 122,353,235 (GRCm39) missense probably benign 0.14
R8817:Slc28a2b UTSW 2 122,348,988 (GRCm39) missense possibly damaging 0.95
R8931:Slc28a2b UTSW 2 122,348,983 (GRCm39) missense
R9070:Slc28a2b UTSW 2 122,352,154 (GRCm39) missense probably damaging 1.00
R9542:Slc28a2b UTSW 2 122,324,822 (GRCm39) missense probably benign 0.26
R9702:Slc28a2b UTSW 2 122,354,012 (GRCm39) missense probably damaging 1.00
R9782:Slc28a2b UTSW 2 122,352,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCGTGGACTCAGTTTCCAG -3'
(R):5'- TTCGCTGGATTGTCACTTACAG -3'

Sequencing Primer
(F):5'- GGACTCAGTTTCCAGGTAAAGTC -3'
(R):5'- CGCTGGATTGTCACTTACAGAAATCC -3'
Posted On 2015-05-15