Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Slc12a2'

591403

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

045703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58011750-58079893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58065596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 944 (V944L)

Ref Sequence

ENSEMBL: ENSMUSP00000111023 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115366
AA Change: V944L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: V944L

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,493,948 (GRCm39)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Glud1	A	T	14: 34,033,114 (GRCm39)	E87V	probably benign	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,117,055 (GRCm39)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lim2	A	T	7: 43,083,054 (GRCm39)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,616,089 (GRCm39)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	probably damaging	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
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
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'- CACTTGTGGTGGCATATTTAAATGG -3'
(R):5'- GAGGCATAAATTTTACCCGGC -3'

Sequencing Primer
(F):5'- TGGTGGCATATTTAAATGGAATGTC -3'
(R):5'- GGCATAAATTTTACCCGGCCAACTAG -3'

Posted On

2019-11-12