Incidental Mutation 'R9075:Slc10a2'
ID 689734
Institutional Source Beutler Lab
Gene Symbol Slc10a2
Ensembl Gene ENSMUSG00000023073
Gene Name solute carrier family 10, member 2
Synonyms 9130221J18Rik, ASBT
MMRRC Submission 068896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9075 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 5133219-5155287 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 5155267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023835]
AlphaFold P70172
Predicted Effect probably benign
Transcript: ENSMUST00000023835
SMART Domains Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073

DomainStartEndE-ValueType
Pfam:SBF 39 220 1e-47 PFAM
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 286 308 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T G 1: 120,097,014 (GRCm39) S137A Het
Actl6a G T 3: 32,769,641 (GRCm39) C152F possibly damaging Het
Adam26b A T 8: 43,973,405 (GRCm39) D532E probably benign Het
Adamts6 A G 13: 104,598,793 (GRCm39) N878S probably benign Het
Ap1b1 T C 11: 4,975,597 (GRCm39) S387P possibly damaging Het
Cdh23 A G 10: 60,153,541 (GRCm39) S2350P probably damaging Het
Cdh4 A G 2: 179,501,940 (GRCm39) D300G probably damaging Het
Cngb1 T C 8: 95,979,993 (GRCm39) Y969C probably damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Fam168a T A 7: 100,484,582 (GRCm39) V224D probably damaging Het
Fam210a C T 18: 68,405,693 (GRCm39) V177M probably damaging Het
Flnc A T 6: 29,447,646 (GRCm39) I1150F probably damaging Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Gm11555 C T 11: 99,540,694 (GRCm39) C95Y Het
Gns A G 10: 121,226,542 (GRCm39) N397S probably benign Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Ifi204 T A 1: 173,589,282 (GRCm39) N50Y possibly damaging Het
Iqub T A 6: 24,446,124 (GRCm39) I767F probably damaging Het
Lama2 A T 10: 26,857,588 (GRCm39) L3087Q probably damaging Het
Mars2 A G 1: 55,278,154 (GRCm39) T586A probably damaging Het
Mrps28 G T 3: 8,867,312 (GRCm39) S185R probably benign Het
Nphp4 T C 4: 152,591,905 (GRCm39) Y363H probably damaging Het
Nploc4 T C 11: 120,304,526 (GRCm39) T232A possibly damaging Het
Pate3 A G 9: 35,557,893 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,339 (GRCm39) A1041V probably benign Het
Plpp5 T A 8: 26,210,379 (GRCm39) Y50N probably benign Het
Ppp4r4 G T 12: 103,570,290 (GRCm39) G755* probably null Het
Psmd14 T A 2: 61,607,021 (GRCm39) V156D probably damaging Het
Ptch1 G A 13: 63,681,335 (GRCm39) R651C possibly damaging Het
Rai14 T C 15: 10,589,403 (GRCm39) E265G probably damaging Het
Rbmx G A X: 56,432,717 (GRCm39) P301L probably benign Het
Rimbp2 T A 5: 128,851,312 (GRCm39) D878V probably damaging Het
Sarm1 T C 11: 78,374,023 (GRCm39) K668R probably benign Het
Slc15a3 T C 19: 10,826,094 (GRCm39) S262P probably damaging Het
Slf2 T C 19: 44,930,860 (GRCm39) Y646H probably damaging Het
Smpd4 C T 16: 17,457,849 (GRCm39) P406S unknown Het
Sv2b A G 7: 74,789,845 (GRCm39) V396A possibly damaging Het
Swt1 A G 1: 151,246,245 (GRCm39) probably benign Het
Sympk A G 7: 18,776,563 (GRCm39) E485G probably benign Het
Tbc1d9 T C 8: 83,982,501 (GRCm39) V762A probably benign Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tie1 C A 4: 118,341,356 (GRCm39) G275V possibly damaging Het
Tmprss15 T C 16: 78,754,259 (GRCm39) Y998C probably damaging Het
Trappc10 A T 10: 78,040,130 (GRCm39) V607E possibly damaging Het
Trim69 A T 2: 122,009,264 (GRCm39) R441S probably benign Het
Trio G T 15: 27,774,022 (GRCm39) S1814* probably null Het
Vmn1r192 C T 13: 22,371,333 (GRCm39) V296I probably benign Het
Vmn1r223 A G 13: 23,433,600 (GRCm39) S65G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r41 A G 7: 8,141,250 (GRCm39) V738A probably benign Het
Zfp408 A G 2: 91,476,065 (GRCm39) V363A possibly damaging Het
Zfp583 A T 7: 6,319,870 (GRCm39) C381S probably damaging 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
R3620:Slc10a2 UTSW 8 5,154,909 (GRCm39) missense probably damaging 0.99
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
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'- AAACATCACCATGGCTAAGAGG -3'
(R):5'- AACTTTCTGTCTTGGCCAGTAG -3'

Sequencing Primer
(F):5'- GTGCTCATCACTGTATTGAGAATTGC -3'
(R):5'- GCCAGTAGTTTCTCTGGACG -3'
Posted On 2021-11-19