Incidental Mutation 'R6294:Slc10a2'
ID 508608
Institutional Source Beutler Lab
Gene Symbol Slc10a2
Ensembl Gene ENSMUSG00000023073
Gene Name solute carrier family 10, member 2
Synonyms 9130221J18Rik, ASBT
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 5133219-5155287 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 5141621 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 null
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
Meta Mutation Damage Score 0.9487 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T possibly 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
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'- CTAAAATGATTCACCTTGGGACAG -3'
(R):5'- GGATCCATCACAGGTGTAATTCTC -3'

Sequencing Primer
(F):5'- TAGTGCCGAGTACCCTAGAACTG -3'
(R):5'- CACAGGTGTAATTCTCATTGTGC -3'
Posted On 2018-03-15