Incidental Mutation 'R0743:Slc10a2'
ID 70780
Institutional Source Beutler Lab
Gene Symbol Slc10a2
Ensembl Gene ENSMUSG00000023073
Gene Name solute carrier family 10, member 2
Synonyms 9130221J18Rik, ASBT
MMRRC Submission 038924-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0743 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 5133219-5155287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5139132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 271 (S271P)
Ref Sequence ENSEMBL: ENSMUSP00000023835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023835]
AlphaFold P70172
Predicted Effect probably damaging
Transcript: ENSMUST00000023835
AA Change: S271P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: S271P

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: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Csmd2 A T 4: 128,007,469 (GRCm39) T149S probably benign Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Dnm2 T A 9: 21,411,561 (GRCm39) Y597N probably damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Glrb T A 3: 80,786,987 (GRCm39) I59F probably damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Kif5b G T 18: 6,209,192 (GRCm39) R857S probably damaging Het
Kmt5a C A 5: 124,585,282 (GRCm39) N44K probably damaging Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Mep1b A G 18: 21,213,515 (GRCm39) D68G possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfat5 G A 8: 108,094,698 (GRCm39) E962K probably damaging Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Npepps A G 11: 97,096,884 (GRCm39) probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 103,899,967 (GRCm39) probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Or6c66 T A 10: 129,461,712 (GRCm39) T73S probably benign Het
Or8h10 G A 2: 86,808,843 (GRCm39) T99I probably benign Het
Ovgp1 T A 3: 105,882,248 (GRCm39) L37H probably damaging Het
Padi3 G T 4: 140,513,740 (GRCm39) A646D probably benign Het
Pamr1 A G 2: 102,440,252 (GRCm39) E142G probably damaging Het
Papolg A T 11: 23,820,818 (GRCm39) probably null Het
Pate8 T C 9: 36,492,597 (GRCm39) S103G probably benign Het
Pfkl C T 10: 77,831,077 (GRCm39) probably null Het
Plrg1 T C 3: 82,967,224 (GRCm39) S132P probably benign Het
Pramel23 A T 4: 143,425,134 (GRCm39) I103N probably damaging Het
Prr14l C A 5: 32,988,538 (GRCm39) C319F possibly damaging Het
Prtn3 T A 10: 79,715,511 (GRCm39) M1K probably null Het
Ptpn22 T C 3: 103,809,487 (GRCm39) F700S probably damaging Het
Ptprz1 C T 6: 23,044,366 (GRCm39) Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Sec16a G A 2: 26,309,734 (GRCm39) L2091F possibly damaging Het
Senp6 C T 9: 80,000,871 (GRCm39) R27C probably damaging Het
Shcbp1 T A 8: 4,814,906 (GRCm39) M191L probably benign Het
Sirt4 T C 5: 115,621,014 (GRCm39) K53E probably benign Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc38a10 C T 11: 120,031,469 (GRCm39) V103M probably damaging Het
Stab2 T A 10: 86,723,759 (GRCm39) I1479F probably damaging Het
Synpo2 A G 3: 122,906,355 (GRCm39) V987A probably benign Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tmem39a A T 16: 38,405,764 (GRCm39) I200F probably damaging Het
Ttn G A 2: 76,579,613 (GRCm39) T23760M probably damaging Het
Uqcrc1 C T 9: 108,773,773 (GRCm39) Q22* probably null Het
Wdtc1 A G 4: 133,027,972 (GRCm39) W377R probably damaging Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P 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
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
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'- CCCAGGTTCCTTGGAAGCATTGAAA -3'
(R):5'- aggggaaggaagaGCAAACAGGTAA -3'

Sequencing Primer
(F):5'- CCTCACAGGTTAGTAAGTCTGACTAC -3'
(R):5'- agggaaagaggaaggaaagaaag -3'
Posted On 2013-09-30