Mutagenetix > Incidental Mutation

Incidental Mutation 'R1935:Slc12a2'

215964

Institutional Source

Beutler Lab

Gene Symbol

Slc12a2

Ensembl Gene

ENSMUSG00000024597

Gene Name

solute carrier family 12, member 2

Synonyms

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

MMRRC Submission

039953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58011750-58079893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58037425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 512 (I512L)

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: I512L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: I512L

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

0.5568

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.6%

Validation Efficiency

95% (95/100)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Abcg8	C	T	17: 85,002,417 (GRCm39)		probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atg2a	A	G	19: 6,302,566 (GRCm39)	Y963C	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atrn	T	C	2: 130,799,955 (GRCm39)	V444A	probably damaging	Het
Avpr1a	G	A	10: 122,285,695 (GRCm39)		probably null	Het
Best3	A	C	10: 116,860,291 (GRCm39)	Q517P	probably benign	Het
C3	A	G	17: 57,525,829 (GRCm39)	L851P	probably damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Carns1	T	C	19: 4,215,473 (GRCm39)	E903G	probably damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,088,380 (GRCm39)	S148P	possibly damaging	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cnot2	G	C	10: 116,334,320 (GRCm39)	P274R	possibly damaging	Het
Cops7a	G	A	6: 124,939,359 (GRCm39)	R97*	probably null	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Ddrgk1	G	T	2: 130,505,480 (GRCm39)		probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dnah8	G	A	17: 30,945,870 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,854,479 (GRCm39)	E47G	unknown	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
H2-Q1	A	T	17: 35,542,469 (GRCm39)	M305L	probably benign	Het
Hoxa10	C	A	6: 52,211,350 (GRCm39)	G189C	possibly damaging	Het
Kbtbd4	T	C	2: 90,737,895 (GRCm39)	V215A	probably damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Med19	A	G	2: 84,516,002 (GRCm39)	H177R	possibly damaging	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Mpl	A	G	4: 118,312,936 (GRCm39)	M132T	probably benign	Het
Mtcl1	G	T	17: 66,686,409 (GRCm39)	H480Q	probably benign	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or14j7	T	A	17: 38,234,993 (GRCm39)	C179S	probably damaging	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or4c11	A	C	2: 88,695,524 (GRCm39)	M192L	probably benign	Het
Or6c214	A	G	10: 129,590,584 (GRCm39)	V245A	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pom121	G	A	5: 135,412,740 (GRCm39)	R481C	unknown	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Rtl1	A	G	12: 109,558,354 (GRCm39)	S1162P	probably benign	Het
Samd9l	G	T	6: 3,376,269 (GRCm39)	Q331K	probably benign	Het
Sipa1l1	T	C	12: 82,419,208 (GRCm39)	Y629H	probably damaging	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Snw1	T	A	12: 87,506,247 (GRCm39)	I218F	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Thra	T	A	11: 98,653,899 (GRCm39)		probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmem50a	A	G	4: 134,630,953 (GRCm39)		probably benign	Het
Tmem63b	A	G	17: 45,989,887 (GRCm39)		probably null	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trip12	T	C	1: 84,771,822 (GRCm39)	S109G	possibly damaging	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Tubgcp4	A	T	2: 121,009,147 (GRCm39)		probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Zfp408	A	T	2: 91,480,093 (GRCm39)	M1K	probably null	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	Het

Other mutations in Slc12a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Slc12a2	APN	18	58,069,477 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAACTTTGGGCCGGATTTTC -3'
(R):5'- GGGCCTCCCAATTCTTTAAAAC -3'

Sequencing Primer
(F):5'- CGGATTTTCGAGAAGAAGAGACTTTC -3'
(R):5'- AGGCAGAAAATGCTGTAAT -3'

Posted On

2014-07-14