Mutagenetix > Incidental Mutation

Incidental Mutation 'R8822:Slc10a2'

673121

Institutional Source

Beutler Lab

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

MMRRC Submission

068655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8822 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5139149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 265 (Q265P)

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023835]

AlphaFold

P70172

Predicted Effect

probably damaging
Transcript: ENSMUST00000023835
AA Change: Q265P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: Q265P

Domain	Start	End	E-Value	Type
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: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb1	T	C	19: 56,711,849 (GRCm39)	V349A	probably damaging	Het
Atp2a2	A	G	5: 122,629,772 (GRCm39)	V99A	possibly damaging	Het
Bank1	T	A	3: 135,809,640 (GRCm39)	D418V	possibly damaging	Het
Cacna1d	A	G	14: 29,900,692 (GRCm39)	V331A	probably benign	Het
Cd28	A	T	1: 60,808,820 (GRCm39)	N178I	possibly damaging	Het
Cdcp3	A	T	7: 130,843,706 (GRCm39)		probably null	Het
Ceacam12	T	C	7: 17,803,378 (GRCm39)		probably benign	Het
Cfap54	G	A	10: 92,875,003 (GRCm39)	A494V	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Cplane1	T	C	15: 8,201,262 (GRCm39)	I13T	probably damaging	Het
Cplx3	A	G	9: 57,514,471 (GRCm39)	V493A	probably benign	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Fam151a	A	T	4: 106,602,842 (GRCm39)	M254L	probably benign	Het
Fyco1	A	T	9: 123,648,184 (GRCm39)	I1250N	probably damaging	Het
Gm6685	T	G	11: 28,289,768 (GRCm39)	Q16P	probably benign	Het
Gpr26	A	G	7: 131,568,997 (GRCm39)	Y114C	probably damaging	Het
Helb	A	T	10: 119,941,389 (GRCm39)	V433D	probably benign	Het
Hps3	A	G	3: 20,057,391 (GRCm39)	W930R	probably benign	Het
Igdcc4	C	T	9: 65,031,298 (GRCm39)	T412I	possibly damaging	Het
Klhl35	T	C	7: 99,122,055 (GRCm39)	V485A	probably benign	Het
Lmo7	A	G	14: 102,121,610 (GRCm39)	D225G	probably damaging	Het
Myo15a	C	T	11: 60,367,740 (GRCm39)	R167C	probably damaging	Het
Obp2a	A	T	2: 25,590,188 (GRCm39)	D29V	probably damaging	Het
Or10d3	C	A	9: 39,461,812 (GRCm39)	M118I	probably benign	Het
Or13a22	A	G	7: 140,072,926 (GRCm39)	Y125C	possibly damaging	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5d47	A	G	2: 87,804,785 (GRCm39)	S75P	possibly damaging	Het
Or8g4	A	G	9: 39,661,700 (GRCm39)	Y6C	probably benign	Het
Pde6b	A	G	5: 108,551,328 (GRCm39)	E204G	probably benign	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Pkd1l1	A	T	11: 8,806,312 (GRCm39)	I2054K		Het
Pkp1	T	A	1: 135,807,661 (GRCm39)	M536L	probably benign	Het
Platr25	T	C	13: 62,848,658 (GRCm39)	E68G	probably benign	Het
Plxna4	T	C	6: 32,127,431 (GRCm39)	D1892G	possibly damaging	Het
Pramel30	A	G	4: 144,057,092 (GRCm39)	K92E	probably benign	Het
Prr12	A	G	7: 44,699,763 (GRCm39)	L76P	unknown	Het
Ptprz1	T	A	6: 23,002,588 (GRCm39)	N1559K	probably damaging	Het
Rbl2	A	T	8: 91,833,346 (GRCm39)	N750I	possibly damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rprd2	A	G	3: 95,691,613 (GRCm39)	S221P	probably damaging	Het
S100a4	T	C	3: 90,512,358 (GRCm39)	S14P	probably benign	Het
Samd11	A	T	4: 156,336,764 (GRCm39)	L25Q	probably damaging	Het
Sash1	G	A	10: 8,761,615 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,370,979 (GRCm39)	S534P	probably damaging	Het
Sec31b	C	A	19: 44,507,702 (GRCm39)	V781F	probably benign	Het
Setd1a	C	T	7: 127,385,332 (GRCm39)	L680F	possibly damaging	Het
Slc27a1	T	A	8: 72,033,308 (GRCm39)	D283E	probably damaging	Het
Slc38a4	G	A	15: 96,906,952 (GRCm39)	T262M	probably benign	Het
Slc52a3	T	G	2: 151,846,513 (GRCm39)	V158G	probably benign	Het
Snx16	T	C	3: 10,484,125 (GRCm39)	V64A	probably benign	Het
Stox1	A	T	10: 62,499,900 (GRCm39)	W887R	probably damaging	Het
Tcap	G	A	11: 98,275,264 (GRCm39)	V133M	probably benign	Het
Ticam1	A	G	17: 56,578,444 (GRCm39)	L217P	probably damaging	Het
Tnfrsf12a	T	C	17: 23,895,188 (GRCm39)	S87G	probably benign	Het
Tyr	G	A	7: 87,142,330 (GRCm39)	R77C	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Usp24	G	A	4: 106,269,410 (GRCm39)	V2107M	probably benign	Het
Wdr64	T	C	1: 175,544,920 (GRCm39)	S118P	probably damaging	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zfp263	G	T	16: 3,562,004 (GRCm39)		probably benign	Het
Zfp318	A	G	17: 46,723,831 (GRCm39)	T1945A	probably benign	Het
Zfp644	G	T	5: 106,783,087 (GRCm39)	R1065S	possibly damaging	Het
Zfp668	A	T	7: 127,466,315 (GRCm39)	S290T	probably damaging	Het
Zfp808	T	A	13: 62,320,869 (GRCm39)	D699E	probably damaging	Het

Other mutations in Slc10a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTTTCAATTTGTACAATCCACTGC -3'
(R):5'- CACCAAATATGTATGTTAAAAGCAGAC -3'

Sequencing Primer
(F):5'- TTGTACAATCCACTGCCAAAAATGG -3'
(R):5'- GGTTAGACCTAACTTGGTGAAACC -3'

Posted On

2021-04-30