Incidental Mutation 'R5467:Slc31a2'
ID 433272
Institutional Source Beutler Lab
Gene Symbol Slc31a2
Ensembl Gene ENSMUSG00000066152
Gene Name solute carrier family 31, member 2
Synonyms Ctr2
MMRRC Submission 043028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5467 (G1)
Quality Score 167
Status Not validated
Chromosome 4
Chromosomal Location 62198630-62216649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62210924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 19 (H19R)
Ref Sequence ENSEMBL: ENSMUSP00000103092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084530] [ENSMUST00000107467] [ENSMUST00000107468]
AlphaFold Q9CPU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000084530
AA Change: H21R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081578
Gene: ENSMUSG00000066152
AA Change: H21R

DomainStartEndE-ValueType
Pfam:Ctr 1 136 1.1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107467
AA Change: H19R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103091
Gene: ENSMUSG00000066152
AA Change: H19R

DomainStartEndE-ValueType
Pfam:Ctr 1 134 3.7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107468
AA Change: H19R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103092
Gene: ENSMUSG00000066152
AA Change: H19R

DomainStartEndE-ValueType
Pfam:Ctr 1 134 3.7e-28 PFAM
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Eml3 G A 19: 8,914,946 (GRCm39) W601* probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Gns T C 10: 121,227,351 (GRCm39) W454R probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or5b112 A T 19: 13,319,521 (GRCm39) Y133F probably damaging Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Ppp4r3a T C 12: 101,009,729 (GRCm39) E636G probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Slc31a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Slc31a2 APN 4 62,210,933 (GRCm39) missense probably damaging 0.97
IGL01977:Slc31a2 APN 4 62,214,197 (GRCm39) missense probably damaging 1.00
IGL01990:Slc31a2 APN 4 62,214,207 (GRCm39) missense probably benign 0.20
IGL02396:Slc31a2 APN 4 62,215,310 (GRCm39) missense probably damaging 1.00
R0410:Slc31a2 UTSW 4 62,210,890 (GRCm39) missense probably benign
R2471:Slc31a2 UTSW 4 62,214,312 (GRCm39) missense probably null 1.00
R4801:Slc31a2 UTSW 4 62,210,869 (GRCm39) missense probably damaging 1.00
R4802:Slc31a2 UTSW 4 62,210,869 (GRCm39) missense probably damaging 1.00
R4916:Slc31a2 UTSW 4 62,215,325 (GRCm39) missense probably damaging 0.97
R5795:Slc31a2 UTSW 4 62,215,289 (GRCm39) missense probably damaging 1.00
R8678:Slc31a2 UTSW 4 62,210,896 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- AATGGCCTTTCTAGCCTGGG -3'
(R):5'- TAACAGCTGGACAATGGCC -3'

Sequencing Primer
(F):5'- TTCTAGCCTGGGAGCCCTGTAG -3'
(R):5'- TGGACAATGGCCATCTACTG -3'
Posted On 2016-10-06