Mutagenetix > Incidental Mutations

Incidental Mutation 'R7310:Slc12a5'

567476

Institutional Source

Beutler Lab

Gene Symbol

Slc12a5

Ensembl Gene

ENSMUSG00000017740

Gene Name

solute carrier family 12, member 5

Synonyms

KCC2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164960802-164999731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 164992440 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 794 (V794M)

Ref Sequence

ENSEMBL: ENSMUSP00000144623 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099092
AA Change: V771M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: V771M

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

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 damaging
Transcript: ENSMUST00000202223
AA Change: V794M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: V794M

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 damaging
Transcript: ENSMUST00000202623
AA Change: V794M

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

SMART Domains

Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: V794M

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	probably benign	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
IGL02510:Slc12a5	APN	2	164982808	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGGCTGGCCCTTATAGAC -3'
(R):5'- AAGCTGGCATGTGGTGTCAC -3'

Sequencing Primer
(F):5'- GAGGCTGGCCCTTATAGACATATAC -3'
(R):5'- TATGTGCTGAGACTCGCAC -3'

Posted On

2019-06-26