Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02510:Slc12a5'

296523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a5

Ensembl Gene

ENSMUSG00000017740

Gene Name

solute carrier family 12, member 5

Synonyms

KCC2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

164960802-164999731 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 164982808 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099092] [ENSMUST00000202136] [ENSMUST00000202223] [ENSMUST00000202479] [ENSMUST00000202623]

Predicted Effect

probably benign
Transcript: ENSMUST00000099092

SMART Domains

Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:AA_permease	102	304	5.2e-22	PFAM
Pfam:AA_permease_2	364	632	1e-17	PFAM
Pfam:AA_permease	389	676	1.9e-42	PFAM
Pfam:SLC12	688	814	2.1e-19	PFAM
Pfam:SLC12	807	959	1.8e-20	PFAM
low complexity region	978	1002	N/A	INTRINSIC
Pfam:SLC12	1009	1115	2.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135918

Predicted Effect

probably benign
Transcript: ENSMUST00000202136

SMART Domains

Protein: ENSMUSP00000143973
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:AA_permease	102	175	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202223

SMART Domains

Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
Pfam:AA_permease	125	327	1e-19	PFAM
Pfam:AA_permease_2	386	655	4.5e-15	PFAM
Pfam:AA_permease	412	699	3.7e-40	PFAM
Pfam:SLC12	711	837	7.2e-17	PFAM
Pfam:SLC12	830	982	6.2e-18	PFAM
low complexity region	1001	1025	N/A	INTRINSIC
Pfam:SLC12	1030	1133	8.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202479

SMART Domains

Protein: ENSMUSP00000144540
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:AA_permease	102	176	5.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202623

SMART Domains

Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
Pfam:AA_permease	125	327	5.3e-22	PFAM
Pfam:AA_permease_2	386	655	1.2e-17	PFAM
Pfam:AA_permease	412	699	2e-42	PFAM
Pfam:SLC12	711	837	2.1e-19	PFAM
Pfam:SLC12	830	982	1.8e-20	PFAM
low complexity region	1001	1025	N/A	INTRINSIC
Pfam:SLC12	1032	1138	2.2e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,251,390	S193N	probably benign	Het
Arrdc1	C	A	2: 24,935,100	V16F	probably damaging	Het
Bsx	A	T	9: 40,874,221	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704	T253A	probably benign	Het
Cdkl3	T	C	11: 52,011,270	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,725,357	N237K	probably benign	Het
Cldn14	T	A	16: 93,919,956	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Col7a1	C	A	9: 108,973,231		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,236,075	V64M	probably damaging	Het
Disp3	G	A	4: 148,252,701	H886Y	probably benign	Het
Dst	G	A	1: 34,229,251		probably null	Het
Fnbp4	T	C	2: 90,751,475	V215A	probably benign	Het
Fzd9	A	G	5: 135,249,615	L472P	probably damaging	Het
Gm5096	A	G	18: 87,757,529	Q392R	probably benign	Het
Hpd	C	T	5: 123,181,910	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,051,611	V412A	probably damaging	Het
Ift80	A	G	3: 68,898,543	F722S	probably benign	Het
Kcnq2	T	C	2: 181,081,361	T741A	probably benign	Het
Kl	A	C	5: 150,989,001	E738D	probably damaging	Het
Klra4	T	A	6: 130,059,543	I178L	probably damaging	Het
Klra9	T	C	6: 130,191,222	E27G	probably benign	Het
Kntc1	T	C	5: 123,819,062	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,257,029	M417K	probably benign	Het
Med31	C	T	11: 72,212,056	M75I	probably benign	Het
Mpeg1	A	T	19: 12,461,424	D82V	probably damaging	Het
Msto1	A	G	3: 88,910,345	Y439H	probably damaging	Het
Olfr23	G	A	11: 73,941,005	G253E	probably damaging	Het
Olfr332	T	C	11: 58,490,539	Y72C	probably damaging	Het
Olfr344	T	C	2: 36,568,681	S28P	possibly damaging	Het
Olfr488	T	A	7: 108,256,141		probably benign	Het
Prtg	G	A	9: 72,890,869	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,588,272	A186S	probably benign	Het
Slc7a3	T	C	X: 101,082,833	E222G	probably benign	Het
Stox1	A	T	10: 62,664,047	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,766,439	N289K	probably benign	Het
Supt20	A	G	3: 54,715,524		probably benign	Het
Tchh	A	G	3: 93,444,078	E275G	unknown	Het
Tectb	A	T	19: 55,191,511	N263I	probably damaging	Het
Tsga10	C	T	1: 37,760,985	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,629,464	Y390H	probably damaging	Het
Utf1	C	A	7: 139,944,016	S48*	probably null	Het
Zfp358	G	A	8: 3,496,786	G456D	probably benign	Het
Zufsp	A	G	10: 33,930,154		probably null	Het

Other mutations in Slc12a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Slc12a5	APN	2	164997121	missense	probably damaging	1.00
IGL00425:Slc12a5	APN	2	164983281	missense	probably damaging	1.00
IGL00976:Slc12a5	APN	2	164979304	missense	probably damaging	1.00
IGL01654:Slc12a5	APN	2	164973755	missense	possibly damaging	0.91
IGL01905:Slc12a5	APN	2	164990381	missense	probably benign	0.02
IGL02205:Slc12a5	APN	2	164996479	missense	probably benign	0.03
IGL02746:Slc12a5	APN	2	164974916	missense	probably benign	0.01
R0051:Slc12a5	UTSW	2	164986663	missense	probably damaging	1.00
R0254:Slc12a5	UTSW	2	164997245	critical splice donor site	probably null
R0412:Slc12a5	UTSW	2	164994062	missense	probably benign	0.05
R0587:Slc12a5	UTSW	2	164976533	missense	probably damaging	1.00
R0835:Slc12a5	UTSW	2	164994038	missense	probably damaging	0.97
R0932:Slc12a5	UTSW	2	164996885	splice site	probably benign
R1643:Slc12a5	UTSW	2	164994027	missense	probably benign	0.01
R1700:Slc12a5	UTSW	2	164992376	missense	possibly damaging	0.94
R1760:Slc12a5	UTSW	2	164996128	missense	probably damaging	0.99
R2063:Slc12a5	UTSW	2	164997147	missense	probably damaging	1.00
R2293:Slc12a5	UTSW	2	164992330	missense	probably benign	0.03
R2412:Slc12a5	UTSW	2	164976462	critical splice donor site	probably null
R3035:Slc12a5	UTSW	2	164980258	missense	probably benign	0.06
R3116:Slc12a5	UTSW	2	164996181	splice site	probably null
R3412:Slc12a5	UTSW	2	164968431	missense	probably benign	0.26
R3788:Slc12a5	UTSW	2	164993775	missense	probably damaging	1.00
R4039:Slc12a5	UTSW	2	164992330	missense	probably benign	0.03
R4174:Slc12a5	UTSW	2	164979490	missense	probably damaging	1.00
R4492:Slc12a5	UTSW	2	164979343	missense	probably benign	0.08
R4608:Slc12a5	UTSW	2	164973765	missense	probably damaging	0.99
R4750:Slc12a5	UTSW	2	164982931	missense	probably benign	0.06
R4994:Slc12a5	UTSW	2	164983365	splice site	probably null
R5103:Slc12a5	UTSW	2	164992433	missense	probably damaging	1.00
R5539:Slc12a5	UTSW	2	164987206	missense	possibly damaging	0.94
R5632:Slc12a5	UTSW	2	164987221	missense	possibly damaging	0.86
R5771:Slc12a5	UTSW	2	164973768	missense	possibly damaging	0.88
R6139:Slc12a5	UTSW	2	164992311	missense	probably damaging	0.98
R6336:Slc12a5	UTSW	2	164992464	splice site	probably null
R6581:Slc12a5	UTSW	2	164987115	missense	probably damaging	1.00
R6706:Slc12a5	UTSW	2	164988589	missense	probably damaging	1.00
R6886:Slc12a5	UTSW	2	164982905	missense	probably benign
R7134:Slc12a5	UTSW	2	164974958	missense	probably damaging	1.00
R7310:Slc12a5	UTSW	2	164992440	missense	probably damaging	1.00
R7402:Slc12a5	UTSW	2	164982932	missense	probably benign	0.01
R8079:Slc12a5	UTSW	2	164992452	missense	probably damaging	1.00
R8301:Slc12a5	UTSW	2	164993691	missense	probably damaging	0.98

Posted On

2015-04-16