Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00491:Slc12a2'

3318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a2

Ensembl Gene

ENSMUSG00000024597

Gene Name

solute carrier family 12, member 2

Synonyms

sy-ns, Nkcc1, mBSC2, sodium/potassium/chloride cotransporters

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00491

Quality Score

Status

Chromosome

Chromosomal Location

58011750-58079893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58069477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1019 (D1019E)

Ref Sequence

ENSEMBL: ENSMUSP00000111023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115366]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000115366
AA Change: D1019E

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

SMART Domains

Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: D1019E

Domain	Start	End	E-Value	Type
low complexity region	3	33	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
SCOP:d1gkub1	91	122	4e-3	SMART
low complexity region	141	162	N/A	INTRINSIC
low complexity region	175	190	N/A	INTRINSIC
Pfam:AA_permease_N	196	260	5.9e-29	PFAM
Pfam:AA_permease	284	787	4.1e-154	PFAM
Pfam:AA_permease_2	290	743	8.7e-22	PFAM
Pfam:SLC12	795	1206	2.7e-167	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	T	15: 94,171,113 (GRCm39)	S1870Y	possibly damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Ccdc7a	A	G	8: 129,753,235 (GRCm39)		probably benign	Het
Col13a1	T	A	10: 61,699,784 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,448 (GRCm39)	S417P	possibly damaging	Het
Dnah1	A	G	14: 30,983,796 (GRCm39)	Y4016H	probably damaging	Het
Dnajc1	A	G	2: 18,313,713 (GRCm39)	V136A	possibly damaging	Het
Fcgbp	A	G	7: 27,792,827 (GRCm39)	T944A	probably damaging	Het
Gm10351	A	T	7: 42,749,217 (GRCm39)		noncoding transcript	Het
Mettl9	T	A	7: 120,651,336 (GRCm39)	V17E	probably damaging	Het
Msh5	A	G	17: 35,249,706 (GRCm39)	V613A	probably damaging	Het
Nup54	T	A	5: 92,565,344 (GRCm39)	I458L	probably benign	Het
Oxct1	A	G	15: 4,125,996 (GRCm39)	N365D	probably damaging	Het
Patl1	T	A	19: 11,907,251 (GRCm39)	N378K	probably benign	Het
Plcl1	T	C	1: 55,752,657 (GRCm39)		probably null	Het
Polk	A	T	13: 96,633,268 (GRCm39)	D258E	probably benign	Het
Ppm1f	T	C	16: 16,741,777 (GRCm39)	L417P	probably benign	Het
Rnf133	T	C	6: 23,649,255 (GRCm39)	I225V	probably benign	Het
Robo4	A	T	9: 37,317,231 (GRCm39)	K463N	possibly damaging	Het
Spock1	C	A	13: 57,704,619 (GRCm39)	R116S	possibly damaging	Het
Stambp	G	T	6: 83,533,280 (GRCm39)	L328I	probably damaging	Het
Tdrd7	T	C	4: 46,010,889 (GRCm39)	C598R	probably damaging	Het
Tmem87a	A	G	2: 120,210,261 (GRCm39)		probably benign	Het
Tpra1	A	G	6: 88,887,390 (GRCm39)		probably benign	Het
Vps13c	A	G	9: 67,800,418 (GRCm39)	E544G	probably damaging	Het

Other mutations in Slc12a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Slc12a2	APN	18	58,039,092 (GRCm39)	nonsense	probably null
IGL01896:Slc12a2	APN	18	58,029,380 (GRCm39)	missense	probably benign	0.06
IGL02266:Slc12a2	APN	18	58,045,092 (GRCm39)	splice site	probably benign
IGL02489:Slc12a2	APN	18	58,045,074 (GRCm39)	missense	probably damaging	0.98
IGL02681:Slc12a2	APN	18	58,012,471 (GRCm39)	missense	probably benign	0.25
IGL03068:Slc12a2	APN	18	58,037,407 (GRCm39)	splice site	probably benign
IGL03076:Slc12a2	APN	18	58,059,469 (GRCm39)	splice site	probably benign
IGL03086:Slc12a2	APN	18	58,054,856 (GRCm39)	missense	probably benign	0.00
IGL03238:Slc12a2	APN	18	58,047,306 (GRCm39)	missense	possibly damaging	0.85
frankie	UTSW	18	58,068,035 (GRCm39)	missense	possibly damaging	0.48
honeylamb	UTSW	18	58,063,238 (GRCm39)	missense	probably damaging	1.00
sugar	UTSW	18	58,032,344 (GRCm39)	missense	probably damaging	1.00
R0048:Slc12a2	UTSW	18	58,048,594 (GRCm39)	splice site	probably benign
R0194:Slc12a2	UTSW	18	58,063,283 (GRCm39)	missense	probably damaging	1.00
R0530:Slc12a2	UTSW	18	58,052,608 (GRCm39)	missense	possibly damaging	0.76
R0959:Slc12a2	UTSW	18	58,037,450 (GRCm39)	missense	probably damaging	1.00
R1014:Slc12a2	UTSW	18	58,054,882 (GRCm39)	missense	probably benign	0.00
R1112:Slc12a2	UTSW	18	58,070,824 (GRCm39)	missense	probably benign	0.01
R1544:Slc12a2	UTSW	18	58,012,374 (GRCm39)	missense	probably benign	0.00
R1669:Slc12a2	UTSW	18	58,037,307 (GRCm39)	missense	probably damaging	0.99
R1935:Slc12a2	UTSW	18	58,037,425 (GRCm39)	missense	possibly damaging	0.95
R1951:Slc12a2	UTSW	18	58,012,467 (GRCm39)	missense	possibly damaging	0.51
R1990:Slc12a2	UTSW	18	58,043,358 (GRCm39)	missense	possibly damaging	0.61
R2340:Slc12a2	UTSW	18	58,033,122 (GRCm39)	missense	probably benign	0.03
R3971:Slc12a2	UTSW	18	58,063,268 (GRCm39)	missense	possibly damaging	0.84
R4120:Slc12a2	UTSW	18	58,032,427 (GRCm39)	missense	possibly damaging	0.95
R4223:Slc12a2	UTSW	18	58,043,328 (GRCm39)	missense	probably damaging	1.00
R4541:Slc12a2	UTSW	18	58,046,037 (GRCm39)	splice site	probably null
R4678:Slc12a2	UTSW	18	58,039,032 (GRCm39)	nonsense	probably null
R4931:Slc12a2	UTSW	18	58,068,035 (GRCm39)	missense	possibly damaging	0.48
R5114:Slc12a2	UTSW	18	58,032,344 (GRCm39)	missense	probably damaging	1.00
R5226:Slc12a2	UTSW	18	58,012,092 (GRCm39)	missense	probably damaging	1.00
R5648:Slc12a2	UTSW	18	58,029,382 (GRCm39)	missense	possibly damaging	0.83
R5726:Slc12a2	UTSW	18	58,029,426 (GRCm39)	missense	probably benign	0.01
R5789:Slc12a2	UTSW	18	58,045,091 (GRCm39)	splice site	probably null
R5868:Slc12a2	UTSW	18	58,077,068 (GRCm39)	missense	probably damaging	1.00
R5921:Slc12a2	UTSW	18	58,065,595 (GRCm39)	missense	probably benign	0.06
R6126:Slc12a2	UTSW	18	58,077,116 (GRCm39)	missense	possibly damaging	0.94
R6310:Slc12a2	UTSW	18	58,048,578 (GRCm39)	missense	probably damaging	0.99
R6598:Slc12a2	UTSW	18	58,031,145 (GRCm39)	missense	probably benign	0.01
R6615:Slc12a2	UTSW	18	58,031,200 (GRCm39)	missense	probably damaging	1.00
R6911:Slc12a2	UTSW	18	58,052,541 (GRCm39)	missense	probably benign	0.05
R6957:Slc12a2	UTSW	18	58,043,344 (GRCm39)	nonsense	probably null
R7411:Slc12a2	UTSW	18	58,074,085 (GRCm39)	missense	probably benign	0.01
R7508:Slc12a2	UTSW	18	58,037,465 (GRCm39)	missense	probably benign	0.01
R7645:Slc12a2	UTSW	18	58,029,450 (GRCm39)	missense	possibly damaging	0.94
R7658:Slc12a2	UTSW	18	58,065,596 (GRCm39)	missense	probably benign	0.02
R8054:Slc12a2	UTSW	18	58,054,944 (GRCm39)	nonsense	probably null
R8093:Slc12a2	UTSW	18	58,012,423 (GRCm39)	missense	probably benign	0.17
R8099:Slc12a2	UTSW	18	58,032,464 (GRCm39)	missense	probably damaging	0.99
R8121:Slc12a2	UTSW	18	58,032,403 (GRCm39)	missense	probably benign	0.44
R8214:Slc12a2	UTSW	18	58,070,791 (GRCm39)	missense	probably benign	0.29
R8273:Slc12a2	UTSW	18	58,047,338 (GRCm39)	splice site	probably benign
R8341:Slc12a2	UTSW	18	58,012,281 (GRCm39)	missense	possibly damaging	0.48
R8485:Slc12a2	UTSW	18	58,074,218 (GRCm39)	critical splice donor site	probably null
R8797:Slc12a2	UTSW	18	58,012,455 (GRCm39)	missense	possibly damaging	0.80
R9049:Slc12a2	UTSW	18	58,054,863 (GRCm39)	nonsense	probably null
R9180:Slc12a2	UTSW	18	58,069,469 (GRCm39)	missense	possibly damaging	0.83
R9256:Slc12a2	UTSW	18	58,074,867 (GRCm39)	missense	probably damaging	1.00
R9337:Slc12a2	UTSW	18	58,063,238 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20