Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02948:Slc28a2'

364819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc28a2

Ensembl Gene

ENSMUSG00000027219

Gene Name

solute carrier family 28 (sodium-coupled nucleoside transporter), member 2

Synonyms

CNT2, 2010208B10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

122426477-122461137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122457977 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 583 (M583K)

Ref Sequence

ENSEMBL: ENSMUSP00000106154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028652] [ENSMUST00000110524] [ENSMUST00000110525]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028652
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: M583K

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	253	1.5e-28	PFAM
Pfam:Gate	260	360	7.9e-11	PFAM
Pfam:Nucleos_tra2_C	363	587	1e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110524
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: M583K

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	254	8.6e-26	PFAM
Pfam:Gate	260	387	2.5e-9	PFAM
Pfam:Nucleos_tra2_C	363	588	5.1e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110525
AA Change: M583K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: M583K

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	254	8.6e-26	PFAM
Pfam:Gate	260	387	2.5e-9	PFAM
Pfam:Nucleos_tra2_C	363	588	5.1e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319		probably benign	Het
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Cntn1	A	G	15: 92,246,010	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711		probably benign	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	Het

Other mutations in Slc28a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Slc28a2	APN	2	122452057	missense	probably damaging	1.00
IGL01404:Slc28a2	APN	2	122452057	missense	probably damaging	1.00
IGL01559:Slc28a2	APN	2	122454540	missense	probably damaging	1.00
IGL02016:Slc28a2	APN	2	122455341	missense	probably benign	0.01
IGL02503:Slc28a2	APN	2	122458212	missense	probably benign	0.00
IGL02576:Slc28a2	APN	2	122458171	missense	probably damaging	0.99
IGL03006:Slc28a2	APN	2	122452538	missense	possibly damaging	0.65
IGL03061:Slc28a2	APN	2	122454499	missense	probably damaging	1.00
R0028:Slc28a2	UTSW	2	122451602	missense	probably damaging	1.00
R0240:Slc28a2	UTSW	2	122454527	missense	probably benign
R0240:Slc28a2	UTSW	2	122454527	missense	probably benign
R0427:Slc28a2	UTSW	2	122458221	missense	probably benign	0.02
R0502:Slc28a2	UTSW	2	122458281	critical splice donor site	probably null
R0981:Slc28a2	UTSW	2	122450984	missense	probably damaging	1.00
R1229:Slc28a2	UTSW	2	122460531	nonsense	probably null
R1397:Slc28a2	UTSW	2	122460531	nonsense	probably null
R1641:Slc28a2	UTSW	2	122455617	missense	probably damaging	1.00
R1713:Slc28a2	UTSW	2	122451013	missense	probably damaging	1.00
R1732:Slc28a2	UTSW	2	122449758	splice site	probably benign
R1765:Slc28a2	UTSW	2	122460395	splice site	probably null
R1955:Slc28a2	UTSW	2	122447866	missense	probably benign
R1996:Slc28a2	UTSW	2	122455562	missense	probably damaging	1.00
R2299:Slc28a2	UTSW	2	122441778	nonsense	probably null
R2300:Slc28a2	UTSW	2	122441778	nonsense	probably null
R2510:Slc28a2	UTSW	2	122451016	nonsense	probably null
R4038:Slc28a2	UTSW	2	122454515	missense	probably benign	0.03
R4893:Slc28a2	UTSW	2	122455216	splice site	probably null
R5011:Slc28a2	UTSW	2	122457890	missense	possibly damaging	0.94
R5013:Slc28a2	UTSW	2	122457890	missense	possibly damaging	0.94
R5185:Slc28a2	UTSW	2	122458194	missense	probably benign	0.04
R6317:Slc28a2	UTSW	2	122454499	missense	possibly damaging	0.77
R7181:Slc28a2	UTSW	2	122451981	critical splice acceptor site	probably null
R8147:Slc28a2	UTSW	2	122458201	missense	probably benign	0.04
R8528:Slc28a2	UTSW	2	122455742	missense	probably damaging	0.99

Posted On

2015-12-18