Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Slc12a2'

590509

Institutional Source

Beutler Lab

Gene Symbol

Slc12a2

Ensembl Gene

ENSMUSG00000024597

Gene Name

solute carrier family 12, member 2

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57878678-57946821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57896378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 279 (F279L)

Ref Sequence

ENSEMBL: ENSMUSP00000111023 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115366
AA Change: F279L

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: F279L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Slc12a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Slc12a2	APN	18	57936405	missense	probably damaging	1.00
IGL01099:Slc12a2	APN	18	57906020	nonsense	probably null
IGL01896:Slc12a2	APN	18	57896308	missense	probably benign	0.06
IGL02266:Slc12a2	APN	18	57912020	splice site	probably benign
IGL02489:Slc12a2	APN	18	57912002	missense	probably damaging	0.98
IGL02681:Slc12a2	APN	18	57879399	missense	probably benign	0.25
IGL03068:Slc12a2	APN	18	57904335	splice site	probably benign
IGL03076:Slc12a2	APN	18	57926397	splice site	probably benign
IGL03086:Slc12a2	APN	18	57921784	missense	probably benign	0.00
IGL03238:Slc12a2	APN	18	57914234	missense	possibly damaging	0.85
frankie	UTSW	18	57934963	missense	possibly damaging	0.48
honeylamb	UTSW	18	57930166	missense	probably damaging	1.00
sugar	UTSW	18	57899272	missense	probably damaging	1.00
R0048:Slc12a2	UTSW	18	57915522	splice site	probably benign
R0194:Slc12a2	UTSW	18	57930211	missense	probably damaging	1.00
R0530:Slc12a2	UTSW	18	57919536	missense	possibly damaging	0.76
R0959:Slc12a2	UTSW	18	57904378	missense	probably damaging	1.00
R1014:Slc12a2	UTSW	18	57921810	missense	probably benign	0.00
R1112:Slc12a2	UTSW	18	57937752	missense	probably benign	0.01
R1544:Slc12a2	UTSW	18	57879302	missense	probably benign	0.00
R1669:Slc12a2	UTSW	18	57904235	missense	probably damaging	0.99
R1935:Slc12a2	UTSW	18	57904353	missense	possibly damaging	0.95
R1951:Slc12a2	UTSW	18	57879395	missense	possibly damaging	0.51
R1990:Slc12a2	UTSW	18	57910286	missense	possibly damaging	0.61
R2340:Slc12a2	UTSW	18	57900050	missense	probably benign	0.03
R3971:Slc12a2	UTSW	18	57930196	missense	possibly damaging	0.84
R4120:Slc12a2	UTSW	18	57899355	missense	possibly damaging	0.95
R4223:Slc12a2	UTSW	18	57910256	missense	probably damaging	1.00
R4541:Slc12a2	UTSW	18	57912965	splice site	probably null
R4678:Slc12a2	UTSW	18	57905960	nonsense	probably null
R4931:Slc12a2	UTSW	18	57934963	missense	possibly damaging	0.48
R5114:Slc12a2	UTSW	18	57899272	missense	probably damaging	1.00
R5226:Slc12a2	UTSW	18	57879020	missense	probably damaging	1.00
R5648:Slc12a2	UTSW	18	57896310	missense	possibly damaging	0.83
R5726:Slc12a2	UTSW	18	57896354	missense	probably benign	0.01
R5789:Slc12a2	UTSW	18	57912019	splice site	probably null
R5868:Slc12a2	UTSW	18	57943996	missense	probably damaging	1.00
R5921:Slc12a2	UTSW	18	57932523	missense	probably benign	0.06
R6126:Slc12a2	UTSW	18	57944044	missense	possibly damaging	0.94
R6310:Slc12a2	UTSW	18	57915506	missense	probably damaging	0.99
R6598:Slc12a2	UTSW	18	57898073	missense	probably benign	0.01
R6615:Slc12a2	UTSW	18	57898128	missense	probably damaging	1.00
R6911:Slc12a2	UTSW	18	57919469	missense	probably benign	0.05
R6957:Slc12a2	UTSW	18	57910272	nonsense	probably null
R7411:Slc12a2	UTSW	18	57941013	missense	probably benign	0.01
R7508:Slc12a2	UTSW	18	57904393	missense	probably benign	0.01
R7658:Slc12a2	UTSW	18	57932524	missense	probably benign	0.02
R8054:Slc12a2	UTSW	18	57921872	nonsense	probably null
R8093:Slc12a2	UTSW	18	57879351	missense	probably benign	0.17
R8099:Slc12a2	UTSW	18	57899392	missense	probably damaging	0.99
R8121:Slc12a2	UTSW	18	57899331	missense	probably benign	0.44
R8214:Slc12a2	UTSW	18	57937719	missense	probably benign	0.29
R8273:Slc12a2	UTSW	18	57914266	splice site	probably benign
R8341:Slc12a2	UTSW	18	57879209	missense	possibly damaging	0.48
R8485:Slc12a2	UTSW	18	57941146	critical splice donor site	probably null
R8797:Slc12a2	UTSW	18	57879383	missense	possibly damaging	0.80
R9049:Slc12a2	UTSW	18	57921791	nonsense	probably null
R9180:Slc12a2	UTSW	18	57936397	missense	possibly damaging	0.83
R9256:Slc12a2	UTSW	18	57941795	missense	probably damaging	1.00
R9337:Slc12a2	UTSW	18	57930166	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATTGTCACGTCACTCTTGG -3'
(R):5'- CCAGGGATATATAGCAAGACCC -3'

Sequencing Primer
(F):5'- TTGCTGGACATTGAACCCAG -3'
(R):5'- AACAGAAGGACTGTAGCC -3'

Posted On

2019-10-24