Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Slc46a2'

729417

Institutional Source

Beutler Lab

Gene Symbol

Slc46a2

Ensembl Gene

ENSMUSG00000028386

Gene Name

solute carrier family 46, member 2

Synonyms

Ly110, Tscot, TSO-1C12, 5430429N04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59905899-59915056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59912582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 397 (S397P)

Ref Sequence

ENSEMBL: ENSMUSP00000030081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030081]

AlphaFold

Q8CA03

Predicted Effect

probably damaging
Transcript: ENSMUST00000030081
AA Change: S397P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030081
Gene: ENSMUSG00000028386
AA Change: S397P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	65	424	1.1e-16	PFAM
transmembrane domain	438	460	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: About one-third of homozygotes carrying a reporter allele that results in a small deletion within exon 1 display a slight reduction in total thymocyte yield at 6 weeks of age. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	Het

Other mutations in Slc46a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Slc46a2	APN	4	59,911,926 (GRCm39)	nonsense	probably null
G5030:Slc46a2	UTSW	4	59,913,867 (GRCm39)	missense	probably damaging	1.00
R0008:Slc46a2	UTSW	4	59,914,544 (GRCm39)	missense	probably damaging	1.00
R0047:Slc46a2	UTSW	4	59,914,392 (GRCm39)	missense	probably damaging	1.00
R0047:Slc46a2	UTSW	4	59,914,392 (GRCm39)	missense	probably damaging	1.00
R1199:Slc46a2	UTSW	4	59,914,189 (GRCm39)	missense	probably benign	0.17
R1225:Slc46a2	UTSW	4	59,914,125 (GRCm39)	missense	probably benign	0.01
R1389:Slc46a2	UTSW	4	59,914,620 (GRCm39)	missense	probably damaging	1.00
R1965:Slc46a2	UTSW	4	59,914,249 (GRCm39)	missense	probably damaging	1.00
R2334:Slc46a2	UTSW	4	59,914,150 (GRCm39)	missense	possibly damaging	0.94
R4036:Slc46a2	UTSW	4	59,913,818 (GRCm39)	missense	probably damaging	1.00
R4230:Slc46a2	UTSW	4	59,914,048 (GRCm39)	missense	probably benign	0.15
R4600:Slc46a2	UTSW	4	59,911,886 (GRCm39)	missense	probably damaging	1.00
R5851:Slc46a2	UTSW	4	59,913,906 (GRCm39)	missense	probably damaging	1.00
R6467:Slc46a2	UTSW	4	59,914,077 (GRCm39)	missense	probably benign	0.00
R7213:Slc46a2	UTSW	4	59,914,279 (GRCm39)	missense	possibly damaging	0.71
R7536:Slc46a2	UTSW	4	59,914,141 (GRCm39)	nonsense	probably null
R7986:Slc46a2	UTSW	4	59,911,858 (GRCm39)	missense	probably benign	0.11
R8354:Slc46a2	UTSW	4	59,913,931 (GRCm39)	missense	possibly damaging	0.93
R8377:Slc46a2	UTSW	4	59,914,713 (GRCm39)	missense	probably damaging	1.00
R9380:Slc46a2	UTSW	4	59,913,867 (GRCm39)	missense	probably damaging	1.00
R9605:Slc46a2	UTSW	4	59,914,056 (GRCm39)	missense	probably damaging	0.98
R9626:Slc46a2	UTSW	4	59,914,241 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CTGGAGATCCAATTCCAGGAC -3'
(R):5'- TCTGGAAGGGCTAACGATTCAG -3'

Sequencing Primer
(F):5'- GGAGATCCAATTCCAGGACTTCATG -3'
(R):5'- ACTCAGGGGGCTACTAATGCTTC -3'

Posted On

2022-10-06