Mutagenetix > Incidental Mutation

Incidental Mutation 'R3804:Slc43a2'

274510

Institutional Source

Beutler Lab

Gene Symbol

Slc43a2

Ensembl Gene

ENSMUSG00000038178

Gene Name

solute carrier family 43, member 2

Synonyms

7630402D21Rik

MMRRC Submission

040879-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R3804 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

75422520-75468401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75454424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 323 (L323P)

Ref Sequence

ENSEMBL: ENSMUSP00000126838 (fasta)

Gene Model

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

AlphaFold

Q8CGA3

Predicted Effect

probably benign
Transcript: ENSMUST00000042561
AA Change: L323P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
AA Change: L323P

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 benign
Transcript: ENSMUST00000108433
AA Change: L323P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
AA Change: L323P

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 benign
Transcript: ENSMUST00000169547
AA Change: L323P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
AA Change: L323P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Adgra1	A	G	7: 139,425,510 (GRCm39)	T8A	probably benign	Het
Alms1	A	G	6: 85,596,629 (GRCm39)	Y954C	probably damaging	Het
AU021092	A	C	16: 5,034,626 (GRCm39)	F199V	possibly damaging	Het
Bahcc1	C	T	11: 120,174,184 (GRCm39)	P1648L	probably benign	Het
Cacna1s	T	A	1: 136,034,756 (GRCm39)	C1319S	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cntn5	A	G	9: 9,781,668 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,002 (GRCm39)	K159E	probably damaging	Het
Dgkz	C	A	2: 91,769,975 (GRCm39)	R563L	probably benign	Het
Dnah8	A	G	17: 30,889,621 (GRCm39)	E718G	probably benign	Het
Dop1a	T	C	9: 86,403,048 (GRCm39)	L1416P	probably damaging	Het
Dstyk	G	A	1: 132,377,464 (GRCm39)	A110T	probably damaging	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Gmppb	T	C	9: 107,927,773 (GRCm39)	Y176H	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Gtf3c3	A	G	1: 54,463,166 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,242,897 (GRCm39)		probably null	Het
Icam2	A	G	11: 106,271,648 (GRCm39)	L94P	probably damaging	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Meltf	A	G	16: 31,703,816 (GRCm39)	H181R	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Or1e16	T	C	11: 73,286,776 (GRCm39)	Q24R	probably benign	Het
Or5p4	A	T	7: 107,680,378 (GRCm39)	I126F	probably damaging	Het
Or6c212	T	A	10: 129,558,918 (GRCm39)	D165V	possibly damaging	Het
Or6n2	T	A	1: 173,897,474 (GRCm39)	N203K	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pgm2l1	T	C	7: 99,901,474 (GRCm39)	V121A	probably benign	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Pif1	T	A	9: 65,495,588 (GRCm39)	V166E	probably damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,646,272 (GRCm39)	C374R	probably damaging	Het
Septin3	T	C	15: 82,170,630 (GRCm39)		probably benign	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc22a15	C	T	3: 101,804,590 (GRCm39)	G145D	probably damaging	Het
Slc28a1	A	T	7: 80,775,969 (GRCm39)	I222F	probably damaging	Het
Sorbs3	A	G	14: 70,436,800 (GRCm39)		probably benign	Het
Spink10	C	T	18: 62,786,485 (GRCm39)		probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Sun1	C	A	5: 139,211,117 (GRCm39)	C164*	probably null	Het
Tax1bp1	T	C	6: 52,719,770 (GRCm39)	F453L	probably benign	Het
Tmem54	A	G	4: 129,002,013 (GRCm39)	N9S	probably benign	Het
Tmx4	A	G	2: 134,462,497 (GRCm39)	W145R	probably damaging	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn1r40	A	G	6: 89,691,991 (GRCm39)	I269M	probably benign	Het
Wdr7	G	T	18: 63,853,907 (GRCm39)	R80L	probably benign	Het
Zap70	A	T	1: 36,810,223 (GRCm39)	Q111L	possibly damaging	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
R2512:Slc43a2	UTSW	11	75,461,403 (GRCm39)	missense	probably damaging	1.00
R3726:Slc43a2	UTSW	11	75,433,980 (GRCm39)	splice site	probably benign
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'- TGAGTTCCGCAGAGCTTAGG -3'
(R):5'- ATGCATCAAGGAAGGCCCAG -3'

Sequencing Primer
(F):5'- GCTGATGAGCATCAAGACCACAG -3'
(R):5'- AGGCCCAGAGGTATGTGTG -3'

Posted On

2015-04-02