Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Slc12a2'

707273

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 #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57878678-57946821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57930166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 906 (D906G)

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: D906G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: D906G

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

0.7735

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adad1	T	C	3: 37,085,098	V439A	possibly damaging	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Arhgef10l	G	A	4: 140,611,313	T46I	probably damaging	Het
BC022687	T	C	12: 112,812,278	L218P	probably damaging	Het
C3ar1	A	G	6: 122,850,319	V313A	probably benign	Het
Capn13	T	A	17: 73,326,472		probably null	Het
Ccdc30	T	A	4: 119,333,723		probably null	Het
Ccdc7a	T	C	8: 128,889,838	Q928R	probably benign	Het
Cept1	A	G	3: 106,505,259	L299S	possibly damaging	Het
Cnot1	T	C	8: 95,741,820	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,429,346	L743P	probably benign	Het
Cop1	T	C	1: 159,244,651	V179A	probably benign	Het
Cpvl	A	G	6: 53,932,494	I219T	probably damaging	Het
Cyc1	T	C	15: 76,344,306	V45A	probably benign	Het
Dnhd1	T	A	7: 105,720,599	N4410K	probably benign	Het
Dok4	T	A	8: 94,866,841	T106S	probably benign	Het
Exosc10	T	C	4: 148,581,131	F842L	probably damaging	Het
Fam24b	T	A	7: 131,326,220	Y80F	probably benign	Het
Fbn2	G	A	18: 58,209,651	A52V	probably benign	Het
Gal3st3	A	T	19: 5,306,840	N81I	probably damaging	Het
Gm13283	T	A	4: 88,760,799	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,258,916	S58P		Het
Grm8	A	T	6: 27,761,215	S337T	probably benign	Het
Hdac5	G	A	11: 102,205,352	P332S	probably damaging	Het
Hr	A	T	14: 70,559,884	E519V	probably benign	Het
Hspbap1	A	G	16: 35,825,025	H360R	probably benign	Het
Iqgap3	T	G	3: 88,116,118		probably null	Het
Krtap5-3	T	A	7: 142,202,530	H175Q	unknown	Het
Lrrn4	A	T	2: 132,870,632	S424T	probably benign	Het
Lsm10	C	A	4: 126,097,867	H5Q	probably damaging	Het
Megf10	A	T	18: 57,261,180	K459*	probably null	Het
Myo15b	A	C	11: 115,859,035	K210N		Het
Olfr1085	T	C	2: 86,658,132	T109A	probably benign	Het
Olfr1126	T	A	2: 87,457,183	I6N	probably benign	Het
Park7	A	T	4: 150,907,096	C46S	probably damaging	Het
Pik3cb	A	G	9: 99,061,791	F653S	probably damaging	Het
Plekha1	T	A	7: 130,909,618	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,063,759	M576K	unknown	Het
Prelid3b	G	A	2: 174,468,368	T74M	probably benign	Het
Prg4	T	C	1: 150,451,365	Y311C	probably damaging	Het
Prom2	A	C	2: 127,529,174	V801G	probably damaging	Het
Psmd9	T	A	5: 123,248,324	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521	L647F	probably damaging	Het
Ptprj	T	C	2: 90,439,894	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,718,378	I449T	probably damaging	Het
Rev3l	A	T	10: 39,822,854	S1116C	probably benign	Het
Rnf212	A	T	5: 108,774,889	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,589,000	S2T	probably benign	Het
Rrp8	T	C	7: 105,734,177	D294G	probably damaging	Het
Rtf2	A	T	2: 172,466,285	K201N	probably damaging	Het
Runx3	A	G	4: 135,163,263	T173A	probably damaging	Het
Sardh	T	C	2: 27,196,666	I827M	probably benign	Het
Sec22b	T	C	3: 97,921,178	Y186H	probably benign	Het
Serpina5	C	T	12: 104,105,283	T383I	possibly damaging	Het
Socs1	T	C	16: 10,784,714	D53G	possibly damaging	Het
Stat1	G	T	1: 52,152,270	A595S	probably benign	Het
Stat3	A	T	11: 100,907,989		probably null	Het
Styxl1	T	C	5: 135,765,738	S82G	probably benign	Het
Taf1b	T	A	12: 24,547,122	D353E	possibly damaging	Het
Tbce	T	C	13: 14,019,813	K87R	probably benign	Het
Thada	T	C	17: 84,441,777	M589V	probably benign	Het
Them5	A	G	3: 94,346,741	M257V	unknown	Het
Tln1	A	T	4: 43,532,927	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,225,864	S379G	probably damaging	Het
Vrk1	T	C	12: 106,058,698		probably null	Het
Zbtb34	T	C	2: 33,411,704	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,801,012	C214R	probably benign	Het
Zeb2	A	G	2: 45,022,900	V137A	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
R7645:Slc12a2	UTSW	18	57896378	missense	possibly damaging	0.94
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

Predicted Primers

PCR Primer
(F):5'- GGTGGGATTAGGACCTAACATG -3'
(R):5'- ATTAGGCACAACTTTCTAACCAAG -3'

Sequencing Primer
(F):5'- GGGATTAGGACCTAACATGATTCATC -3'
(R):5'- CATGGCTCTAGCTGCACATGTAG -3'

Posted On

2022-04-18