Incidental Mutation 'R3620:Slc10a2'
ID 268596
Institutional Source Beutler Lab
Gene Symbol Slc10a2
Ensembl Gene ENSMUSG00000023073
Gene Name solute carrier family 10, member 2
Synonyms 9130221J18Rik, ASBT
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3620 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 5133219-5155287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5154909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 92 (I92N)
Ref Sequence ENSEMBL: ENSMUSP00000023835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023835]
AlphaFold P70172
Predicted Effect probably damaging
Transcript: ENSMUST00000023835
AA Change: I92N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: I92N

DomainStartEndE-ValueType
Pfam:SBF 39 220 1e-47 PFAM
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 286 308 N/A INTRINSIC
Meta Mutation Damage Score 0.1632 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially indistinguishable from wild-type in terms of survival, gross appearance and behavior. However, they do have defects in lipid absorption from the intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,864 (GRCm39) M473T probably benign Het
Asxl1 C A 2: 153,199,075 (GRCm39) R76S probably damaging Het
Bhlhe41 C A 6: 145,808,733 (GRCm39) G360C possibly damaging Het
Ccdc88a T C 11: 29,380,227 (GRCm39) I201T probably benign Het
Ccng1 T C 11: 40,642,992 (GRCm39) T152A probably benign Het
Cep192 T C 18: 67,962,928 (GRCm39) V648A probably benign Het
Cldn16 T A 16: 26,296,302 (GRCm39) F93I possibly damaging Het
Csmd1 T C 8: 16,042,684 (GRCm39) S2350G probably benign Het
Enpp6 T C 8: 47,518,540 (GRCm39) W223R probably benign Het
Fah T C 7: 84,238,159 (GRCm39) probably null Het
Fat2 A T 11: 55,147,521 (GRCm39) V3907D probably damaging Het
Fsip2 C A 2: 82,810,602 (GRCm39) T2307K probably benign Het
Gcg T C 2: 62,307,279 (GRCm39) E94G probably damaging Het
Gramd1b C A 9: 40,366,842 (GRCm39) R42L probably benign Het
H2bc9 C A 13: 23,727,324 (GRCm39) V67L probably benign Het
Hdc T A 2: 126,458,187 (GRCm39) Y45F possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf10 T G 3: 59,243,752 (GRCm39) D194A probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lrpprc A T 17: 85,077,452 (GRCm39) C412S probably benign Het
Mga T A 2: 119,747,149 (GRCm39) D433E probably damaging Het
Myo15a A T 11: 60,369,468 (GRCm39) S743C possibly damaging Het
Myo15b T G 11: 115,762,013 (GRCm39) L1176R possibly damaging Het
Ndor1 T C 2: 25,138,047 (GRCm39) Q526R probably damaging Het
Nipbl A G 15: 8,362,508 (GRCm39) I1429T probably damaging Het
Or1d2 T A 11: 74,256,050 (GRCm39) L185Q probably damaging Het
Or4c126 T C 2: 89,824,196 (GRCm39) I153T probably damaging Het
Or4k38 T A 2: 111,165,689 (GRCm39) I245L probably benign Het
Otogl T C 10: 107,710,232 (GRCm39) D619G probably damaging Het
Pa2g4 C G 10: 128,399,464 (GRCm39) E67Q probably damaging Het
Pnpla1 C T 17: 29,096,362 (GRCm39) A147V probably damaging Het
Prdm13 A G 4: 21,683,532 (GRCm39) Y143H unknown Het
Rad23a A G 8: 85,567,193 (GRCm39) M1T probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Slc24a4 T C 12: 102,185,222 (GRCm39) F111L probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Thbs1 T C 2: 117,951,640 (GRCm39) V820A probably benign Het
Unc45a G T 7: 79,983,799 (GRCm39) N332K possibly damaging Het
Vmn1r159 A C 7: 22,542,258 (GRCm39) I258S possibly damaging Het
Wdr31 A T 4: 62,375,701 (GRCm39) F251L possibly damaging Het
Wdr43 C T 17: 71,957,601 (GRCm39) T530M probably benign Het
Zfp445 C T 9: 122,681,833 (GRCm39) A703T probably benign Het
Other mutations in Slc10a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Slc10a2 APN 8 5,141,667 (GRCm39) missense probably benign 0.00
IGL00504:Slc10a2 APN 8 5,141,668 (GRCm39) missense probably damaging 0.96
IGL00596:Slc10a2 APN 8 5,141,680 (GRCm39) missense probably benign 0.00
IGL01472:Slc10a2 APN 8 5,141,652 (GRCm39) missense probably damaging 1.00
IGL02679:Slc10a2 APN 8 5,148,499 (GRCm39) missense probably damaging 1.00
gall UTSW 8 5,141,621 (GRCm39) critical splice donor site probably null
R0560:Slc10a2 UTSW 8 5,139,092 (GRCm39) missense probably benign 0.02
R0629:Slc10a2 UTSW 8 5,148,562 (GRCm39) missense probably benign 0.30
R0743:Slc10a2 UTSW 8 5,139,132 (GRCm39) missense probably damaging 0.99
R0970:Slc10a2 UTSW 8 5,155,115 (GRCm39) missense probably benign 0.00
R1033:Slc10a2 UTSW 8 5,154,889 (GRCm39) missense probably damaging 0.99
R1557:Slc10a2 UTSW 8 5,141,755 (GRCm39) missense probably damaging 1.00
R1808:Slc10a2 UTSW 8 5,154,856 (GRCm39) missense probably damaging 0.96
R4084:Slc10a2 UTSW 8 5,139,126 (GRCm39) missense possibly damaging 0.71
R4112:Slc10a2 UTSW 8 5,155,135 (GRCm39) missense probably benign
R5693:Slc10a2 UTSW 8 5,155,128 (GRCm39) missense probably damaging 1.00
R6294:Slc10a2 UTSW 8 5,141,621 (GRCm39) critical splice donor site probably null
R6459:Slc10a2 UTSW 8 5,148,581 (GRCm39) splice site probably null
R7442:Slc10a2 UTSW 8 5,139,086 (GRCm39) missense possibly damaging 0.80
R8479:Slc10a2 UTSW 8 5,148,443 (GRCm39) splice site probably null
R8822:Slc10a2 UTSW 8 5,139,149 (GRCm39) missense probably damaging 1.00
R9075:Slc10a2 UTSW 8 5,155,267 (GRCm39) start gained probably benign
R9255:Slc10a2 UTSW 8 5,148,565 (GRCm39) missense probably benign 0.00
R9493:Slc10a2 UTSW 8 5,139,047 (GRCm39) missense
Z1177:Slc10a2 UTSW 8 5,148,448 (GRCm39) missense probably damaging 1.00
Z1188:Slc10a2 UTSW 8 5,155,063 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGCAGCAGATCAAATGGATGTTG -3'
(R):5'- TACCTGAGAGCAACTTCAATGC -3'

Sequencing Primer
(F):5'- GCAGATCAAATGGATGTTGAAAAAG -3'
(R):5'- CTGAGAGCAACTTCAATGCAATTCTC -3'
Posted On 2015-02-19