Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Slc43a2'

253481

Institutional Source

Beutler Lab

Gene Symbol

Slc43a2

Ensembl Gene

ENSMUSG00000038178

Gene Name

solute carrier family 43, member 2

Synonyms

7630402D21Rik

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R2512 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

75422520-75468401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75461403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 452 (S452P)

Ref Sequence

ENSEMBL: ENSMUSP00000126838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042561] [ENSMUST00000108433] [ENSMUST00000169547]

AlphaFold

Q8CGA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042561
AA Change: S452P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
AA Change: S452P

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.9e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108433
AA Change: S452P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
AA Change: S452P

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.4e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155981

Predicted Effect

probably damaging
Transcript: ENSMUST00000169547
AA Change: S452P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
AA Change: S452P

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.4e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display fetal growth retardation, abnormal placental amino acid transport, slow postnatal weight gain, malnutrition and postnatal lethality, likely as a result of impaired intestinal amino acid absorption. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	probably damaging	Het

Other mutations in Slc43a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Slc43a2	APN	11	75,436,577 (GRCm39)	splice site	probably null
IGL03009:Slc43a2	APN	11	75,463,202 (GRCm39)	missense	probably benign
IGL03145:Slc43a2	APN	11	75,459,263 (GRCm39)	missense	probably benign	0.27
1mM(1):Slc43a2	UTSW	11	75,457,822 (GRCm39)	missense	possibly damaging	0.80
R0051:Slc43a2	UTSW	11	75,453,676 (GRCm39)	missense	probably damaging	1.00
R0051:Slc43a2	UTSW	11	75,453,676 (GRCm39)	missense	probably damaging	1.00
R0133:Slc43a2	UTSW	11	75,454,403 (GRCm39)	missense	probably benign	0.22
R0443:Slc43a2	UTSW	11	75,435,493 (GRCm39)	splice site	probably benign
R0841:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1145:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1145:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1215:Slc43a2	UTSW	11	75,453,688 (GRCm39)	missense	probably damaging	1.00
R1499:Slc43a2	UTSW	11	75,453,733 (GRCm39)	critical splice donor site	probably null
R1943:Slc43a2	UTSW	11	75,436,567 (GRCm39)	splice site	probably null
R2438:Slc43a2	UTSW	11	75,453,957 (GRCm39)	missense	possibly damaging	0.90
R3726:Slc43a2	UTSW	11	75,433,980 (GRCm39)	splice site	probably benign
R3804:Slc43a2	UTSW	11	75,454,424 (GRCm39)	missense	probably benign	0.01
R4830:Slc43a2	UTSW	11	75,434,119 (GRCm39)	missense	probably damaging	1.00
R5650:Slc43a2	UTSW	11	75,436,633 (GRCm39)	missense	probably damaging	1.00
R6042:Slc43a2	UTSW	11	75,461,433 (GRCm39)	missense	probably damaging	0.98
R6171:Slc43a2	UTSW	11	75,453,876 (GRCm39)	missense	probably damaging	1.00
R6196:Slc43a2	UTSW	11	75,459,206 (GRCm39)	nonsense	probably null
R6264:Slc43a2	UTSW	11	75,457,900 (GRCm39)	missense	possibly damaging	0.90
R6597:Slc43a2	UTSW	11	75,462,681 (GRCm39)	missense	probably damaging	1.00
R7681:Slc43a2	UTSW	11	75,454,499 (GRCm39)	missense	probably benign	0.02
R7787:Slc43a2	UTSW	11	75,453,900 (GRCm39)	missense	probably damaging	1.00
R8174:Slc43a2	UTSW	11	75,434,193 (GRCm39)	critical splice donor site	probably null
R8711:Slc43a2	UTSW	11	75,457,879 (GRCm39)	missense	probably benign	0.22
R8769:Slc43a2	UTSW	11	75,434,192 (GRCm39)	critical splice donor site	probably null
R9688:Slc43a2	UTSW	11	75,434,112 (GRCm39)	missense	probably damaging	1.00
X0060:Slc43a2	UTSW	11	75,423,491 (GRCm39)	missense	probably null	0.91

Predicted Primers

PCR Primer
(F):5'- AGTTCTAGGGCAGCCAAGGATAC -3'
(R):5'- ATCACACATGCCAGCAGGTC -3'

Sequencing Primer
(F):5'- GGATACACAGTGAGATCCTGTC -3'
(R):5'- CAGCAGGTCAGGATAGGCTAGTTTC -3'

Posted On

2014-12-04