Incidental Mutation 'R7575:Slc19a2'
ID 586301
Institutional Source Beutler Lab
Gene Symbol Slc19a2
Ensembl Gene ENSMUSG00000040918
Gene Name solute carrier family 19 (thiamine transporter), member 2
Synonyms TRMA, DDA1, THTR1
MMRRC Submission 045632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R7575 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 164076615-164092954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164084691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 194 (S194P)
Ref Sequence ENSEMBL: ENSMUSP00000037561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044021] [ENSMUST00000159230] [ENSMUST00000169394]
AlphaFold Q9EQN9
Predicted Effect probably damaging
Transcript: ENSMUST00000044021
AA Change: S194P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: S194P

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 459 2.7e-180 PFAM
Pfam:MFS_1 34 441 2.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159230
AA Change: S194P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: S194P

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 421 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169394
SMART Domains Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 70 3.7e-17 PFAM
Pfam:Folate_carrier 65 258 6.7e-85 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,384,589 (GRCm39) V459I probably benign Het
4921539E11Rik T C 4: 103,088,192 (GRCm39) D439G probably damaging Het
Adam18 T C 8: 25,115,873 (GRCm39) N607S possibly damaging Het
Adamtsl3 A T 7: 82,223,756 (GRCm39) N1179I possibly damaging Het
Adarb1 A G 10: 77,139,129 (GRCm39) F552S probably damaging Het
Ago1 T C 4: 126,347,701 (GRCm39) E394G probably benign Het
Alb G A 5: 90,613,788 (GRCm39) C224Y probably damaging Het
Alms1 T A 6: 85,599,141 (GRCm39) H1322Q possibly damaging Het
Arhgef18 T G 8: 3,501,635 (GRCm39) V643G probably damaging Het
Asah2 T C 19: 31,994,103 (GRCm39) Q414R probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Bbc3 G A 7: 16,046,292 (GRCm39) R76H possibly damaging Het
Bub1b T A 2: 118,471,639 (GRCm39) S1000T possibly damaging Het
Bud23 A T 5: 135,089,982 (GRCm39) Y70* probably null Het
C1d A G 11: 17,212,694 (GRCm39) E13G probably damaging Het
Camk1 T A 6: 113,315,325 (GRCm39) I158F probably damaging Het
Ccr2 A C 9: 123,905,843 (GRCm39) D41A probably benign Het
Cdh18 G T 15: 23,400,683 (GRCm39) E348* probably null Het
Col6a3 A G 1: 90,738,321 (GRCm39) L1066P possibly damaging Het
Cyp11b1 T A 15: 74,711,162 (GRCm39) D172V probably benign Het
Cyp2j8 A G 4: 96,358,785 (GRCm39) I378T possibly damaging Het
Cys1 T A 12: 24,718,647 (GRCm39) K69* probably null Het
Dip2c A G 13: 9,678,048 (GRCm39) K1165E probably damaging Het
Drd3 A T 16: 43,637,496 (GRCm39) I232F probably benign Het
Dusp7 T C 9: 106,250,876 (GRCm39) C334R probably damaging Het
Eppk1 A G 15: 75,995,442 (GRCm39) S480P not run Het
Erc1 G T 6: 119,801,721 (GRCm39) P99T possibly damaging Het
Fam170b C T 14: 32,558,155 (GRCm39) P330L unknown Het
Fasn G T 11: 120,703,513 (GRCm39) T1573K possibly damaging Het
Fras1 A T 5: 96,691,173 (GRCm39) T130S probably benign Het
Fzd4 A G 7: 89,056,918 (GRCm39) I322V possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdpd4 A T 7: 97,647,448 (GRCm39) H365L probably benign Het
Gfy A G 7: 44,827,524 (GRCm39) S191P probably benign Het
Ghr A T 15: 3,349,994 (GRCm39) S395T probably damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Htt A G 5: 35,062,987 (GRCm39) D2873G probably damaging Het
Idua A T 5: 108,829,565 (GRCm39) D476V probably damaging Het
Inppl1 G A 7: 101,477,689 (GRCm39) R683W probably damaging Het
Ipp T C 4: 116,389,841 (GRCm39) S466P probably benign Het
Iqgap2 A G 13: 95,798,131 (GRCm39) V1058A probably damaging Het
Jmy A T 13: 93,601,103 (GRCm39) Y434* probably null Het
Kmt2d CTGCTGCTG CTGCTGCTGATGCTGCTG 15: 98,747,492 (GRCm39) probably benign Het
Mogs T G 6: 83,092,816 (GRCm39) S85R probably damaging Het
Mroh2b A T 15: 4,964,087 (GRCm39) D863V probably damaging Het
Mtmr10 A T 7: 63,947,213 (GRCm39) I43F probably damaging Het
Mtr T C 13: 12,213,963 (GRCm39) D903G probably benign Het
Ncor1 A G 11: 62,274,082 (GRCm39) V186A probably benign Het
Notch3 C T 17: 32,373,793 (GRCm39) D472N possibly damaging Het
Or4k44 A T 2: 111,368,597 (GRCm39) F12L probably damaging Het
Or6c68 T C 10: 129,157,728 (GRCm39) F79L probably damaging Het
Or8j3c A G 2: 86,253,582 (GRCm39) F146S probably benign Het
Or9i1 T C 19: 13,839,381 (GRCm39) S75P probably damaging Het
Oxr1 T G 15: 41,686,758 (GRCm39) L547V possibly damaging Het
Pappa2 A T 1: 158,642,100 (GRCm39) C1319S probably damaging Het
Papss1 A C 3: 131,348,857 (GRCm39) K623N probably damaging Het
Parp4 T C 14: 56,875,375 (GRCm39) F1198S probably benign Het
Pcare T A 17: 72,057,850 (GRCm39) Q609L probably damaging Het
Pcnt A T 10: 76,225,086 (GRCm39) V1806D probably benign Het
Pitx2 A T 3: 129,009,375 (GRCm39) H98L probably damaging Het
Polq C A 16: 36,911,496 (GRCm39) D2410E probably benign Het
Prdm9 C T 17: 15,764,890 (GRCm39) C630Y probably damaging Het
Preb A T 5: 31,115,839 (GRCm39) D201E probably damaging Het
Rasa3 A T 8: 13,645,887 (GRCm39) I151N possibly damaging Het
Rasgrp2 T A 19: 6,454,397 (GRCm39) S147T probably damaging Het
Rev3l A G 10: 39,697,441 (GRCm39) D646G possibly damaging Het
Sdc1 A G 12: 8,840,619 (GRCm39) E128G probably damaging Het
Slamf7 A C 1: 171,466,762 (GRCm39) C148G probably damaging Het
Spata31 C T 13: 65,070,726 (GRCm39) P958L unknown Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Stradb A G 1: 59,027,739 (GRCm39) I90V probably benign Het
Tas2r134 A G 2: 51,518,166 (GRCm39) D215G probably damaging Het
Tbc1d4 T C 14: 101,685,025 (GRCm39) K1209E probably damaging Het
Thbs1 A G 2: 117,953,409 (GRCm39) D942G probably damaging Het
Tmem107 C T 11: 68,963,633 (GRCm39) P139S probably benign Het
Tmem216 A T 19: 10,529,266 (GRCm39) M40K probably benign Het
Tpte A G 8: 22,845,498 (GRCm39) Y516C probably damaging Het
Trim54 G A 5: 31,291,431 (GRCm39) G184D possibly damaging Het
Try5 A T 6: 41,288,748 (GRCm39) L157Q probably benign Het
Ubqlnl G A 7: 103,797,697 (GRCm39) A600V probably damaging Het
Uhrf2 C A 19: 30,048,768 (GRCm39) P258Q probably damaging Het
Ush2a A T 1: 188,554,885 (GRCm39) E3554D possibly damaging Het
Usp40 A C 1: 87,877,682 (GRCm39) L1158W probably damaging Het
Vmn1r121 T A 7: 20,832,198 (GRCm39) R81* probably null Het
Vmn1r203 C A 13: 22,708,588 (GRCm39) T123K probably benign Het
Vmn2r101 T C 17: 19,831,654 (GRCm39) V550A probably benign Het
Wdr49 A T 3: 75,358,193 (GRCm39) M184K probably damaging Het
Wipi2 A G 5: 142,643,987 (GRCm39) N123S probably damaging Het
Zbtb14 T C 17: 69,694,442 (GRCm39) F47L probably damaging Het
Zc3h7b C A 15: 81,662,086 (GRCm39) S385* probably null Het
Zhx2 T A 15: 57,686,658 (GRCm39) F676I probably damaging Het
Other mutations in Slc19a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Slc19a2 APN 1 164,088,430 (GRCm39) missense probably damaging 1.00
IGL03231:Slc19a2 APN 1 164,088,449 (GRCm39) missense probably damaging 1.00
R0324:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R0709:Slc19a2 UTSW 1 164,084,367 (GRCm39) missense probably damaging 1.00
R1117:Slc19a2 UTSW 1 164,091,025 (GRCm39) missense possibly damaging 0.86
R1165:Slc19a2 UTSW 1 164,091,014 (GRCm39) missense probably damaging 1.00
R1463:Slc19a2 UTSW 1 164,084,766 (GRCm39) missense probably damaging 0.98
R1833:Slc19a2 UTSW 1 164,089,753 (GRCm39) missense probably damaging 1.00
R2148:Slc19a2 UTSW 1 164,089,657 (GRCm39) missense probably damaging 1.00
R2680:Slc19a2 UTSW 1 164,076,982 (GRCm39) missense probably damaging 1.00
R4010:Slc19a2 UTSW 1 164,088,451 (GRCm39) missense probably damaging 1.00
R5850:Slc19a2 UTSW 1 164,091,025 (GRCm39) missense probably benign 0.00
R6279:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R6300:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R6907:Slc19a2 UTSW 1 164,090,323 (GRCm39) missense possibly damaging 0.79
R6917:Slc19a2 UTSW 1 164,088,578 (GRCm39) missense probably damaging 1.00
R6982:Slc19a2 UTSW 1 164,084,428 (GRCm39) missense possibly damaging 0.88
R6993:Slc19a2 UTSW 1 164,088,391 (GRCm39) missense probably benign 0.00
R7424:Slc19a2 UTSW 1 164,088,445 (GRCm39) missense probably benign 0.31
R8193:Slc19a2 UTSW 1 164,084,794 (GRCm39) missense probably benign 0.13
R8831:Slc19a2 UTSW 1 164,084,443 (GRCm39) missense probably damaging 1.00
R9424:Slc19a2 UTSW 1 164,076,895 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGCTGGCCATTCAGTTCTTG -3'
(R):5'- AATGTCCTCCCATCCAGGAAG -3'

Sequencing Primer
(F):5'- GGAATTCTTCTACGGCATCGC -3'
(R):5'- CATCCAGGAAGATGGTTAGCTGC -3'
Posted On 2019-10-24