Incidental Mutation 'R2471:Slc31a2'
ID 253076
Institutional Source Beutler Lab
Gene Symbol Slc31a2
Ensembl Gene ENSMUSG00000066152
Gene Name solute carrier family 31, member 2
Synonyms Ctr2
MMRRC Submission 040403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R2471 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 62198630-62216649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62214312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 86 (R86W)
Ref Sequence ENSEMBL: ENSMUSP00000103092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084530] [ENSMUST00000107467] [ENSMUST00000107468]
AlphaFold Q9CPU9
Predicted Effect probably benign
Transcript: ENSMUST00000084527
SMART Domains Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151

DomainStartEndE-ValueType
low complexity region 59 68 N/A INTRINSIC
Pfam:FKBP_C 190 286 4.8e-21 PFAM
low complexity region 302 322 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
internal_repeat_1 403 431 1.88e-10 PROSPERO
internal_repeat_1 472 500 1.88e-10 PROSPERO
coiled coil region 560 662 N/A INTRINSIC
coiled coil region 684 790 N/A INTRINSIC
coiled coil region 816 865 N/A INTRINSIC
coiled coil region 916 943 N/A INTRINSIC
low complexity region 952 964 N/A INTRINSIC
low complexity region 983 994 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000084530
AA Change: R88W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081578
Gene: ENSMUSG00000066152
AA Change: R88W

DomainStartEndE-ValueType
Pfam:Ctr 1 136 1.1e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107467
AA Change: R86W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103091
Gene: ENSMUSG00000066152
AA Change: R86W

DomainStartEndE-ValueType
Pfam:Ctr 1 134 3.7e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107468
AA Change: R86W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103092
Gene: ENSMUSG00000066152
AA Change: R86W

DomainStartEndE-ValueType
Pfam:Ctr 1 134 3.7e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139308
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,888,147 (GRCm39) M390K probably benign Het
Bicra A G 7: 15,706,257 (GRCm39) S1395P probably benign Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Csmd1 T A 8: 16,261,776 (GRCm39) D907V probably damaging Het
Cstl1 T A 2: 148,593,041 (GRCm39) Y65* probably null Het
Dnajc1 T C 2: 18,224,627 (GRCm39) I213V possibly damaging Het
Emcn C T 3: 137,109,772 (GRCm39) T138M probably damaging Het
F3 G T 3: 121,518,689 (GRCm39) W51L probably damaging Het
Far2 A G 6: 148,040,192 (GRCm39) Y41C probably damaging Het
Flrt1 A T 19: 7,073,856 (GRCm39) D230E probably damaging Het
Gimap7 G A 6: 48,700,986 (GRCm39) V191M probably damaging Het
Gm19402 A T 10: 77,526,354 (GRCm39) probably benign Het
Ipo5 A C 14: 121,159,574 (GRCm39) K134T probably benign Het
Kcnf1 T C 12: 17,225,531 (GRCm39) E230G probably damaging Het
Mad1l1 T C 5: 140,247,307 (GRCm39) E340G probably benign Het
Map4k5 T C 12: 69,903,620 (GRCm39) I62V probably benign Het
Marchf7 A G 2: 60,067,244 (GRCm39) K588R possibly damaging Het
Mctp2 T A 7: 71,810,909 (GRCm39) K52* probably null Het
Nr1h4 A T 10: 89,309,756 (GRCm39) F310L probably damaging Het
Ofcc1 G A 13: 40,250,501 (GRCm39) S605F probably damaging Het
Or2w1b A T 13: 21,300,599 (GRCm39) T246S probably damaging Het
Or5ac25 A T 16: 59,181,944 (GRCm39) S212R possibly damaging Het
Or5b97 G A 19: 12,878,679 (GRCm39) T155I probably benign Het
Pcdh20 T G 14: 88,704,672 (GRCm39) E876A probably benign Het
Plce1 C T 19: 38,768,370 (GRCm39) A2215V probably damaging Het
Ptprg T C 14: 12,210,327 (GRCm38) Y128H probably damaging Het
Sigirr A G 7: 140,672,510 (GRCm39) L204S probably damaging Het
Slc2a12 A T 10: 22,540,706 (GRCm39) Y187F probably damaging Het
Smc1b T C 15: 84,976,218 (GRCm39) K830E probably damaging Het
Ssrp1 A G 2: 84,872,642 (GRCm39) N427D possibly damaging Het
Taar9 A T 10: 23,985,289 (GRCm39) F48L probably benign Het
Taok2 T C 7: 126,474,272 (GRCm39) E319G probably damaging Het
Try10 T C 6: 41,333,680 (GRCm39) S142P probably damaging Het
Tsc22d1 A G 14: 76,655,644 (GRCm39) T626A probably benign Het
Zfp101 T C 17: 33,599,950 (GRCm39) E602G possibly 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
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
R5467:Slc31a2 UTSW 4 62,210,924 (GRCm39) missense probably damaging 1.00
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'- AGTGCTGGTAGTCTTGCTCC -3'
(R):5'- CAGTACAGGTGTGAAGTTCCCTG -3'

Sequencing Primer
(F):5'- CTCCTGGCAGTACTGTATGAG -3'
(R):5'- GTGTGAAGTTCCCTGCAGAAATCC -3'
Posted On 2014-12-04